ID EFCB5_HUMAN Reviewed; 1503 AA.
AC A4FU69; B2RPN0; B4DS75; B4DZR5; F5GYL2; Q0VD68; Q6ZRM6; Q8NDG9;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2012, sequence version 3.
DT 28-FEB-2018, entry version 92.
DE RecName: Full=EF-hand calcium-binding domain-containing protein 5;
GN Name=EFCAB5;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5 AND 6), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 195-1503 (ISOFORM 3), AND VARIANTS
RP VAL-237 AND LYS-278.
RC TISSUE=Brain, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
RP LYS-278.
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 203-1503 (ISOFORM 4), AND VARIANT
RP LYS-278.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-77, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=A4FU69-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A4FU69-2; Sequence=VSP_030734, VSP_030735;
CC Name=3;
CC IsoId=A4FU69-3; Sequence=VSP_030732;
CC Name=4;
CC IsoId=A4FU69-4; Sequence=VSP_030733;
CC Name=5;
CC IsoId=A4FU69-5; Sequence=VSP_047184, VSP_047185, VSP_047186;
CC Note=No experimental confirmation available.;
CC Name=6;
CC IsoId=A4FU69-6; Sequence=VSP_055510, VSP_047185, VSP_047186;
CC Note=No experimental confirmation available.;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC87284.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
CC -----------------------------------------------------------------------
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CC Distributed under the Creative Commons Attribution-NoDerivs License
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DR EMBL; AK128126; BAC87284.1; ALT_INIT; mRNA.
DR EMBL; AK299608; BAG61537.1; -; mRNA.
DR EMBL; AK303060; BAG64177.1; -; mRNA.
DR EMBL; BX648689; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL833911; CAD38767.1; -; mRNA.
DR EMBL; AC104982; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104984; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104996; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC110608; AAI10609.1; -; mRNA.
DR EMBL; BC110609; AAI10610.1; -; mRNA.
DR EMBL; BC119807; AAI19808.1; -; mRNA.
DR EMBL; BC137519; AAI37520.1; -; mRNA.
DR CCDS; CCDS11254.2; -. [A4FU69-1]
DR CCDS; CCDS54103.1; -. [A4FU69-5]
DR RefSeq; NP_001138525.1; NM_001145053.1.
DR RefSeq; NP_940931.2; NM_198529.3.
DR UniGene; Hs.662411; -.
DR ProteinModelPortal; A4FU69; -.
DR BioGrid; 131921; 3.
DR IntAct; A4FU69; 1.
DR MINT; A4FU69; -.
DR STRING; 9606.ENSP00000378312; -.
DR iPTMnet; A4FU69; -.
DR PhosphoSitePlus; A4FU69; -.
DR BioMuta; EFCAB5; -.
DR EPD; A4FU69; -.
DR PaxDb; A4FU69; -.
DR PRIDE; A4FU69; -.
DR Ensembl; ENST00000394835; ENSP00000378312; ENSG00000176927. [A4FU69-1]
DR Ensembl; ENST00000440741; ENSP00000393095; ENSG00000176927. [A4FU69-2]
DR Ensembl; ENST00000536908; ENSP00000440619; ENSG00000176927. [A4FU69-5]
DR GeneID; 374786; -.
DR KEGG; hsa:374786; -.
DR UCSC; uc002het.3; human. [A4FU69-1]
DR CTD; 374786; -.
DR EuPathDB; HostDB:ENSG00000176927.14; -.
DR GeneCards; EFCAB5; -.
DR H-InvDB; HIX0013680; -.
DR HGNC; HGNC:24801; EFCAB5.
DR HPA; HPA022852; -.
DR HPA; HPA028608; -.
DR neXtProt; NX_A4FU69; -.
DR OpenTargets; ENSG00000176927; -.
DR PharmGKB; PA145008457; -.
DR eggNOG; ENOG410IECF; Eukaryota.
DR eggNOG; ENOG410YZ07; LUCA.
DR GeneTree; ENSGT00390000009150; -.
DR HOGENOM; HOG000112338; -.
DR HOVERGEN; HBG107836; -.
DR InParanoid; A4FU69; -.
DR OMA; QDAEAHG; -.
DR OrthoDB; EOG091G047D; -.
DR PhylomeDB; A4FU69; -.
DR TreeFam; TF329659; -.
DR ChiTaRS; EFCAB5; human.
DR GenomeRNAi; 374786; -.
DR PRO; PR:A4FU69; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000176927; -.
DR CleanEx; HS_EFCAB5; -.
DR ExpressionAtlas; A4FU69; baseline and differential.
DR Genevisible; A4FU69; HS.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR Gene3D; 3.30.450.40; -; 1.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR029016; GAF-like_dom_sf.
DR PROSITE; PS00018; EF_HAND_1; 1.
DR PROSITE; PS50222; EF_HAND_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Calcium; Complete proteome; Metal-binding;
KW Phosphoprotein; Polymorphism; Reference proteome.
FT CHAIN 1 1503 EF-hand calcium-binding domain-containing
FT protein 5.
FT /FTId=PRO_0000315836.
FT DOMAIN 869 904 EF-hand. {ECO:0000255|PROSITE-
FT ProRule:PRU00448}.
FT CA_BIND 882 893 {ECO:0000255|PROSITE-ProRule:PRU00448}.
FT MOD_RES 77 77 Phosphoserine.
FT {ECO:0000244|PubMed:18669648}.
FT VAR_SEQ 1 343 Missing (in isoform 6).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_055510.
FT VAR_SEQ 1 56 Missing (in isoform 5).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_047184.
FT VAR_SEQ 789 912 Missing (in isoform 3).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_030732.
FT VAR_SEQ 861 912 FSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTY
FT KEGMEKESMKK -> VSLCRQAGVQWRNCSSLQPPTPGLKR
FT SSHHRLLSNWDYRERRKFFPLETKFP (in isoform 5
FT and isoform 6).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_047185.
FT VAR_SEQ 913 1503 Missing (in isoform 5 and isoform 6).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_047186.
FT VAR_SEQ 913 1440 Missing (in isoform 4).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_030733.
FT VAR_SEQ 913 926 AKLHIQFPKPHPGH -> GLTLSPGWSAVAQL (in
FT isoform 2).
FT {ECO:0000303|PubMed:17974005}.
FT /FTId=VSP_030734.
FT VAR_SEQ 927 1503 Missing (in isoform 2).
FT {ECO:0000303|PubMed:17974005}.
FT /FTId=VSP_030735.
FT VARIANT 237 237 L -> V (in dbSNP:rs9897794).
FT {ECO:0000269|PubMed:14702039}.
FT /FTId=VAR_038343.
FT VARIANT 278 278 I -> K (in dbSNP:rs4795524).
FT {ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005}.
FT /FTId=VAR_038344.
FT VARIANT 561 561 R -> S (in dbSNP:rs9900546).
FT /FTId=VAR_038345.
FT VARIANT 1145 1145 A -> D (in dbSNP:rs9894896).
FT /FTId=VAR_048644.
FT VARIANT 1252 1252 V -> A (in dbSNP:rs4499292).
FT /FTId=VAR_048645.
FT VARIANT 1274 1274 R -> T (in dbSNP:rs35724168).
FT /FTId=VAR_048646.
FT CONFLICT 324 324 L -> P (in Ref. 1; BX648689).
FT {ECO:0000305}.
FT CONFLICT 374 374 D -> E (in Ref. 1; BX648689).
FT {ECO:0000305}.
FT CONFLICT 429 429 R -> Q (in Ref. 4; BAC87284).
FT {ECO:0000305}.
FT CONFLICT 962 962 M -> I (in Ref. 4; BAC87284).
FT {ECO:0000305}.
FT CONFLICT 1386 1386 V -> G (in Ref. 1; CAD38767).
FT {ECO:0000305}.
SQ SEQUENCE 1503 AA; 173404 MW; 907EED07E7C17EB7 CRC64;
MNESASQEEL RPAQENRKED KERKWNLTEV KELHETLQSV PDVPVKEDTN SVVEKAMDEI
KSQELNLEGQ RKISPGSIKD SKTEASGNIA IRKSAKVIFA LDETELKSKP EHTWKKNLFE
RMEARAQAMQ QKIIDKENLK KELEKKAEKK LPRDNLAKEW FNTDSMTLNN TAYLLDKLLP
TLVPGVENML TQVEKKKVLT EADTPSKFDP INYLGEYLIR NNPNYIKDPG MSGYQRLMKE
VTEDLKIYVP DTICNRVSKM KENVKQNRKQ RESIDKIIVK VANTRKQALQ EQFDEWILDP
KGMIPKSVIQ NVLQEFFQNP DFKLGSHCKQ LDITDSTEPR LNKMEFTEYI SSHIKDLKSE
MFEELLKHLC HSADEFREVI KADMRRQMFA ELFLHCDHGK VGFLDRQRTL ALLELFYDHS
SQMLRSLLRN PRQWPFIEFE EINLTELWGD MDNQKHIYEG FDKVLLEMNT LLSANHASKT
QSKLLESPDQ PKLNEQRTST PSPNPPEQQR GVTAEQGPQR ISIEEQQQGK KPTAEQELYI
ESVIEPGTHT ESTLEQGSSR RLLTEQETHR ESTTEQGQHK GSIEGQGPRR VSVSEQGSSR
ESVAEQGSRR ESIAEQDRHK GSVAEQGSRR MSAAEQGSLR ESVIEEPYQK SEQGPYGEII
SEEQEDIGST SQSRKDSILK STKYGEPITS EYIEVPLQEK RSWEQTYEEE IFLSSELQEE
VPTLSRKDHF PETTKKEVQK DKPCEPKSQK IEGKSWSGEF FTCNWKMKYV TFEDEEQANL
IYGNSRFTDL HSIIRNIQSC KEVKGRTAFN GVSFNLLQFV QLLETFVGED APLSVSETLT
SFFKEGYVET EQEKMNALEQ FSQNAFQVRQ RLLLEAIFQK WDSDGSGFLD LKEVDELLYT
YKEGMEKESM KKAKLHIQFP KPHPGHEVRL SSKQFQNYIE LVVSELRGNE DQVLESVVEF
LMNALERSHI ESLRNSARRK WLHQIQCAAE TSGVSLEPVY SETFKALMQD AEAHGNKKIS
AHISLLEENL LLPEKGNVLL RNVACTLDDA QFVLNRVLYR DMKGISFTVV DEGKPIHVPQ
VQYHGNIFFW NQSRNKHDYN GSFLALPLQD AYMRIFGVLA VDTLRDPHEI NIFLPHEIRF
YQGVANVFST AYHYVHSREH ILHIVITGIG WLYDVTSSIT SITTYFVEPS PAQDSDYVLR
NMMVTGQLGL TEIHKNPPTI HRKSCIFRDF LFKCTDSSEV VLASACGETH IVVPLRERTG
EALGVLDFNI GQNRMLLCQE YKDLQKMMKV VQVACYEILG EFSGEIKKKY ILEIENVREV
QRAGILFFRI MLLELQESIQ LLNSMEFVSL LLYDHTLVTE PNSPQDSKSM ELEANVKLVR
DILKAVILFF HPELEFSSDF GSWDKCKFYV NKYLVNNICA FDPTAKHVEV NVQLIDEYIR
DHSRTEVWKF GNVVIEHLYH WIHICSALMK ITKQLNSGIT PPLPSKTDNY MYAKMPGEGL
QEK
//
ID F187A_HUMAN Reviewed; 413 AA.
AC A6NFU0;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 1.
DT 28-FEB-2018, entry version 81.
DE RecName: Full=Ig-like V-type domain-containing protein FAM187A;
DE Flags: Precursor;
GN Name=FAM187A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the FAM187 family. {ECO:0000305}.
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DR EMBL; AC015936; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR ProteinModelPortal; A6NFU0; -.
DR SMR; A6NFU0; -.
DR STRING; 9606.ENSP00000329499; -.
DR PaxDb; A6NFU0; -.
DR PRIDE; A6NFU0; -.
DR Ensembl; ENST00000331733; ENSP00000329499; ENSG00000214447.
DR UCSC; uc002ihp.2; human.
DR EuPathDB; HostDB:ENSG00000214447.4; -.
DR GeneCards; FAM187A; -.
DR HGNC; HGNC:35153; FAM187A.
DR HPA; HPA022794; -.
DR neXtProt; NX_A6NFU0; -.
DR eggNOG; ENOG410IE2U; Eukaryota.
DR eggNOG; ENOG410XNRD; LUCA.
DR GeneTree; ENSGT00390000004038; -.
DR HOGENOM; HOG000155662; -.
DR HOVERGEN; HBG108742; -.
DR InParanoid; A6NFU0; -.
DR OMA; SMRVFID; -.
DR OrthoDB; EOG091G07MV; -.
DR PhylomeDB; A6NFU0; -.
DR TreeFam; TF332178; -.
DR PRO; PR:A6NFU0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000214447; -.
DR Genevisible; A6NFU0; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013106; Ig_V-set.
DR Pfam; PF07686; V-set; 1.
DR SUPFAM; SSF48726; SSF48726; 2.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 3: Inferred from homology;
KW Complete proteome; Disulfide bond; Glycoprotein;
KW Immunoglobulin domain; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1 17 {ECO:0000255}.
FT CHAIN 18 413 Ig-like V-type domain-containing protein
FT FAM187A.
FT /FTId=PRO_0000340654.
FT TOPO_DOM 18 376 Extracellular. {ECO:0000255}.
FT TRANSMEM 377 397 Helical. {ECO:0000255}.
FT TOPO_DOM 398 413 Cytoplasmic. {ECO:0000255}.
FT DOMAIN 267 361 Ig-like V-type.
FT COMPBIAS 398 408 Cys-rich.
FT CARBOHYD 317 317 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT DISULFID 289 345 {ECO:0000255|PROSITE-ProRule:PRU00114}.
SQ SEQUENCE 413 AA; 47349 MW; 580178965D3F9631 CRC64;
MHLALTTVLL WAWGLQAFEI VEKENIFQRT PCPAFLMFEN AAYLADMSFE LPCHCKPEEV
PAVVWFYQKH LGSSHTKVLT DFDGRVLTEA AQVRVGSDML TRFSIRMFSL LVFRAQSEDS
GLYFCGTRKG DYFYAYDVDI QNSEGMVATF QDKGQEPFAD EYYGHLHVFT TFWEWTPCDR
CGVRGEQWRI GLCYLQSPDL SPRYLKAVPD VVSCGSRAVP RKLRTKARDH TPEVLVRSCL
VPCEKTKTIR EGVLAIINYV SKVGSRPWVP QVPIQFHQQR LGHGLIISCP GARPEHAVAW
DKDRQHLYRT QYLKGVNRSM RVFIDHGNQL HIRFTQLDDR GIYYCWRQGV LVAGFRLGVT
SHGHYPASFS DPETRSAVEL TLIGYLLITA VFVTIHFCRC CCYLFHCCPS FSP
//
ID TLCD2_HUMAN Reviewed; 264 AA.
AC A6NGC4;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 22-JUL-2008, sequence version 3.
DT 27-SEP-2017, entry version 73.
DE RecName: Full=TLC domain-containing protein 2;
GN Name=TLCD2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the TLCD family. {ECO:0000305}.
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DR EMBL; AC130343; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS45567.1; -.
DR RefSeq; NP_001157879.1; NM_001164407.1.
DR UniGene; Hs.531005; -.
DR ProteinModelPortal; A6NGC4; -.
DR BioGrid; 608350; 6.
DR IntAct; A6NGC4; 2.
DR STRING; 9606.ENSP00000331965; -.
DR iPTMnet; A6NGC4; -.
DR PhosphoSitePlus; A6NGC4; -.
DR BioMuta; TLCD2; -.
DR PaxDb; A6NGC4; -.
DR PRIDE; A6NGC4; -.
DR Ensembl; ENST00000330676; ENSP00000331965; ENSG00000185561.
DR Ensembl; ENST00000611774; ENSP00000479301; ENSG00000275246.
DR GeneID; 727910; -.
DR KEGG; hsa:727910; -.
DR UCSC; uc021tnh.2; human.
DR CTD; 727910; -.
DR EuPathDB; HostDB:ENSG00000185561.9; -.
DR GeneCards; TLCD2; -.
DR HGNC; HGNC:33522; TLCD2.
DR HPA; HPA046063; -.
DR neXtProt; NX_A6NGC4; -.
DR OpenTargets; ENSG00000185561; -.
DR PharmGKB; PA162405795; -.
DR eggNOG; KOG4474; Eukaryota.
DR eggNOG; ENOG410Z5I9; LUCA.
DR GeneTree; ENSGT00520000055611; -.
DR HOGENOM; HOG000015396; -.
DR HOVERGEN; HBG108573; -.
DR InParanoid; A6NGC4; -.
DR OMA; GWMSLWL; -.
DR OrthoDB; EOG091G0K5T; -.
DR PhylomeDB; A6NGC4; -.
DR TreeFam; TF315115; -.
DR ChiTaRS; TLCD2; human.
DR GenomeRNAi; 727910; -.
DR PRO; PR:A6NGC4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000185561; -.
DR CleanEx; HS_TLCD2; -.
DR Genevisible; A6NGC4; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR006634; TLC-dom.
DR Pfam; PF03798; TRAM_LAG1_CLN8; 1.
DR SMART; SM00724; TLC; 1.
DR PROSITE; PS50922; TLC; 1.
PE 3: Inferred from homology;
KW Complete proteome; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1 264 TLC domain-containing protein 2.
FT /FTId=PRO_0000328990.
FT TRANSMEM 3 23 Helical. {ECO:0000255}.
FT TRANSMEM 42 62 Helical. {ECO:0000255}.
FT TRANSMEM 77 97 Helical. {ECO:0000255}.
FT TRANSMEM 114 134 Helical. {ECO:0000255}.
FT TRANSMEM 169 189 Helical. {ECO:0000255}.
FT TRANSMEM 199 219 Helical. {ECO:0000255}.
FT DOMAIN 34 227 TLC. {ECO:0000255|PROSITE-
FT ProRule:PRU00205}.
SQ SEQUENCE 264 AA; 28733 MW; E2B4B93612BCC33A CRC64;
MAPTGLLVAG ASFLAFRGLH WGLRRLPTPE SAARDRWQWW NLCVSLAHSL LSGTGALLGL
SLYPQMAADP IHGHPRWALV LVAVSVGYFL ADGADLLWNQ TLGKTWDLLC HHLVVVSCLS
TAVLSGHYVG FSMVSLLLEL NSACLHLRKL LLLSRQAPSL AFSVTSWASL ATLALFRLVP
LGWMSLWLFR QHHQVPLALV TLGGIGLVTV GIMSIILGIR ILVNDVLQSR PHPPSPGHEK
TRGTRTRRDN GPVTSNSSTL SLKD
//
ID L37A2_HUMAN Reviewed; 1700 AA.
AC A6NM11; B7ZMC3;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 28-FEB-2018, entry version 86.
DE RecName: Full=Leucine-rich repeat-containing protein 37A2;
DE Flags: Precursor;
GN Name=LRRC37A2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 779-1700, AND VARIANTS
RP LEU-1141; THR-1281; LYS-1385 AND PRO-1423.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the LRRC37A family. {ECO:0000305}.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AC138645; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC144427; AAI44428.1; -; mRNA.
DR CCDS; CCDS42353.1; -.
DR RefSeq; NP_001006608.2; NM_001006607.2.
DR UniGene; Hs.646568; -.
DR UniGene; Hs.744157; -.
DR UniGene; Hs.744758; -.
DR ProteinModelPortal; A6NM11; -.
DR IntAct; A6NM11; 4.
DR STRING; 9606.ENSP00000333071; -.
DR iPTMnet; A6NM11; -.
DR PhosphoSitePlus; A6NM11; -.
DR BioMuta; LRRC37A2; -.
DR EPD; A6NM11; -.
DR PaxDb; A6NM11; -.
DR PRIDE; A6NM11; -.
DR Ensembl; ENST00000333412; ENSP00000333071; ENSG00000238083.
DR Ensembl; ENST00000576629; ENSP00000459551; ENSG00000238083.
DR GeneID; 474170; -.
DR KEGG; hsa:474170; -.
DR UCSC; uc002ikn.2; human.
DR CTD; 474170; -.
DR DisGeNET; 474170; -.
DR EuPathDB; HostDB:ENSG00000238083.7; -.
DR GeneCards; LRRC37A2; -.
DR HGNC; HGNC:32404; LRRC37A2.
DR HPA; HPA042121; -.
DR HPA; HPA042701; -.
DR HPA; HPA043056; -.
DR HPA; HPA045090; -.
DR HPA; HPA049080; -.
DR MIM; 616556; gene.
DR neXtProt; NX_A6NM11; -.
DR PharmGKB; PA162394530; -.
DR eggNOG; ENOG410IJNR; Eukaryota.
DR eggNOG; ENOG410YV94; LUCA.
DR GeneTree; ENSGT00530000063282; -.
DR HOGENOM; HOG000113269; -.
DR HOVERGEN; HBG100009; -.
DR InParanoid; A6NM11; -.
DR OMA; PENTINQ; -.
DR OrthoDB; EOG091G006W; -.
DR PhylomeDB; A6NM11; -.
DR TreeFam; TF341959; -.
DR ChiTaRS; LRRC37A2; human.
DR GenomeRNAi; 474170; -.
DR PRO; PR:A6NM11; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000238083; -.
DR CleanEx; HS_LRRC37A2; -.
DR Genevisible; A6NM11; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR015753; LRRC37.
DR InterPro; IPR032754; LRRC37_N.
DR InterPro; IPR029423; LRRC37AB_C.
DR PANTHER; PTHR23045; PTHR23045; 3.
DR Pfam; PF13855; LRR_8; 1.
DR Pfam; PF15779; LRRC37; 7.
DR Pfam; PF14914; LRRC37AB_C; 1.
DR SMART; SM00369; LRR_TYP; 4.
DR PROSITE; PS51450; LRR; 4.
PE 2: Evidence at transcript level;
KW Complete proteome; Glycoprotein; Leucine-rich repeat; Membrane;
KW Polymorphism; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1 35 {ECO:0000255}.
FT CHAIN 36 1700 Leucine-rich repeat-containing protein
FT 37A2.
FT /FTId=PRO_0000337080.
FT TOPO_DOM 36 1582 Extracellular. {ECO:0000255}.
FT TRANSMEM 1583 1603 Helical. {ECO:0000255}.
FT TOPO_DOM 1604 1700 Cytoplasmic. {ECO:0000255}.
FT REPEAT 137 160 LRR 1.
FT REPEAT 230 253 LRR 2.
FT REPEAT 267 290 LRR 3.
FT REPEAT 864 887 LRR 4.
FT REPEAT 888 911 LRR 5.
FT REPEAT 912 935 LRR 6.
FT REPEAT 937 959 LRR 7.
FT REPEAT 963 987 LRR 8.
FT REPEAT 1002 1027 LRR 9.
FT REPEAT 1124 1146 LRR 10.
FT CARBOHYD 296 296 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 1079 1079 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT VARIANT 1141 1141 F -> L (in dbSNP:rs1863115).
FT {ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_070799.
FT VARIANT 1281 1281 I -> T (in dbSNP:rs62073349).
FT {ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_070800.
FT VARIANT 1385 1385 N -> K (in dbSNP:rs1969205).
FT {ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_070801.
FT VARIANT 1423 1423 H -> P (in dbSNP:rs201103889).
FT {ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_070802.
FT CONFLICT 1508 1508 A -> T (in Ref. 2; AAI44428).
FT {ECO:0000305}.
FT CONFLICT 1628 1628 W -> R (in Ref. 2; AAI44428).
FT {ECO:0000305}.
FT CONFLICT 1686 1687 Missing (in Ref. 2; AAI44428).
FT {ECO:0000305}.
SQ SEQUENCE 1700 AA; 188393 MW; B80368373F772CDF CRC64;
MSSAQCPALV CVMSRLRFWG PWPLLMWQLL WLLVKEAQPL EWVKDPLQLT SNPLGPPDSW
SSHSSHFPRE SPHAPTLPAD PWDFDHLGPS ASSEMPAPPQ ESTENLVPFL DTWDSAGEQP
LEPEQFLASQ QDLKDKLSPQ ERLPVSPKKL KKDPAQRWSL AEIIGITRQL STPQSQKQTL
QNEYSSTDTP YPGSLPPELR VKSDEPPGPS EQVGPSQFHL EPETQNPETL EDIQSSSLQQ
EAPAQLPQLL EEEPSSMQQE APALPPESSM ESLTLPNHEV SVQPPGEDQA YYHLPNITVK
PADVEVTITS EPTNETESSQ AQQETPIQFP EEVEPSATQQ EAPIEPPVPP MEHELSISEQ
QQPVQPSESP REVESSPTQQ ETPGQPPEHH EVTVSPPGHH QTHHLASPSV SVKPPDVQLT
IAAEPSAEVG TSLVHQEATT RLSGSGNDVE PPAIQHGGPP LLPESSEEAG PLAVQQETSF
QSPEPINNEN PSPTQQEAAA EHPQTAEEGE SSLTHQEAPA QTPEFPNVVV AQPPEHSHLT
QATVQPLDLG FTITPESKTE VELSPTMKET PTQPPKKVVP QLRVYQGVTN PTPGQDQAQH
PVSPSVTVQL LDLGLTITPE PTTEVGHSTP PKRTIVSPKH PEVTLPHPDQ VQTQHSHLTR
ATVQPLDLGF TITPKSMTEV EPSTALMTTA PPPGHPEVTL PPSDKGQAQH SHLTQATVQP
LDLELTITTK PTTEVKPSPT TEETSTQPPD LGLAIIPEPT TETRHSTALE KTTAPRPDRV
QTLHRSLTEV TGPPTELEPA QDSLVQSESY TQNKALTAPE EHKASTSTNI CELCTCGDEM
LSCIDLNPEQ RLRQVPVPEP NTHNGTFTIL NFQGNYISYI DGNVWKAYSW TEKLILRENN
LTELHKDSFE GLLSLQYLDL SCNKIQSIER HTFEPLPFLK FINLSCNVIT ELSFGTFQAW
HGMQFLHKLI LNHNPLTTVE DPYLFKLPAL KYLDMGTTLV PLTTLKNILM MTVELEKLIL
PSHMACCLCQ FKNSIEAVCK TVKLHCNSAC LTNTTHCPEE ASVGNPEGAF MKVLQARKNY
TSTELIVEPE EPSDSSGINL SGFGSEQLDT NDESDFISTL SYILPYFSAV NLDVKSLLLP
FIKLPTTGNS LAKIQTVGQN RQRVKRVLMG PRSIQKRHFK EVGRQSIRRE QGAQASVENA
AEEKRLGSPA PREVEQPHTQ QGPEKLAGNA VYTKPSFTQE HKAAVSVLKP FSKGAPSTSS
PAKALPQVRD RWKDLTHAIS ILESAKARVT NTKTSKPIVH ARKKYRFHKT RSHVTHRTPK
VKKSPKVRKK SYLSRLMLAN RLPFSAAKSL INSPSQGAFS SLGDLSPQEN PFLEVSAPSE
HFIENNNTKH TTARNAFEEN DFMENTNMPE GTISENTNYN HPHEADSAGT AFNLGPTVKQ
TETKWEYNNV GTDLSPEPKS FNYPLLSSPG DQFEIQLTQQ LQSLIPNNNV RRLIAHVIRT
LKMDCSGAHV QVTCAKLISR TGHLMKLLSG QQEVKASKIE WDTDQWKIEN YINESTEAQS
EQKEKSLELK KEVPGYGYTD KLILALIVTG ILTILIILFC LIVICCHRRS LQEDEEGFSR
GIFRFLPWRG CSSRRESQDG LSSFGQPLWF KDMYKPLSAT RINNHAWKLH KKSSNEDKIL
NRDPGDSEAP TEEEESEALP
//
ID L37A1_HUMAN Reviewed; 1700 AA.
AC A6NMS7; Q68DY2; Q8IWC7;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 31-MAY-2011, sequence version 3.
DT 28-FEB-2018, entry version 94.
DE RecName: Full=Leucine-rich repeat-containing protein 37A;
DE Flags: Precursor;
GN Name=LRRC37A; Synonyms=LRRC37A1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the LRRC37A family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAH18088.1; Type=Frameshift; Positions=8, 177; Evidence={ECO:0000305};
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; CR749232; CAH18088.1; ALT_FRAME; mRNA.
DR EMBL; AC005829; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC139026; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC040501; AAH40501.2; -; mRNA.
DR CCDS; CCDS11504.2; -.
DR RefSeq; NP_055649.4; NM_014834.4.
DR UniGene; Hs.579108; -.
DR UniGene; Hs.744157; -.
DR UniGene; Hs.744758; -.
DR ProteinModelPortal; A6NMS7; -.
DR IntAct; A6NMS7; 1.
DR STRING; 9606.ENSP00000326324; -.
DR iPTMnet; A6NMS7; -.
DR PhosphoSitePlus; A6NMS7; -.
DR BioMuta; LRRC37A; -.
DR PaxDb; A6NMS7; -.
DR PRIDE; A6NMS7; -.
DR Ensembl; ENST00000320254; ENSP00000326324; ENSG00000176681.
DR GeneID; 9884; -.
DR KEGG; hsa:9884; -.
DR UCSC; uc002ikg.3; human.
DR CTD; 9884; -.
DR DisGeNET; 9884; -.
DR EuPathDB; HostDB:ENSG00000176681.14; -.
DR GeneCards; LRRC37A; -.
DR H-InvDB; HIX0013912; -.
DR H-InvDB; HIX0027330; -.
DR H-InvDB; HIX0039350; -.
DR H-InvDB; HIX0173525; -.
DR H-InvDB; HIX0173724; -.
DR H-InvDB; HIX0174144; -.
DR H-InvDB; HIX0174145; -.
DR H-InvDB; HIX0174159; -.
DR H-InvDB; HIX0202473; -.
DR HGNC; HGNC:29069; LRRC37A.
DR HPA; HPA042121; -.
DR HPA; HPA042701; -.
DR HPA; HPA043056; -.
DR HPA; HPA045090; -.
DR HPA; HPA049080; -.
DR MIM; 616555; gene.
DR neXtProt; NX_A6NMS7; -.
DR OpenTargets; ENSG00000176681; -.
DR eggNOG; ENOG410IJNR; Eukaryota.
DR eggNOG; ENOG410YV94; LUCA.
DR GeneTree; ENSGT00530000063282; -.
DR HOGENOM; HOG000113269; -.
DR HOVERGEN; HBG100009; -.
DR InParanoid; A6NMS7; -.
DR OMA; SANICEL; -.
DR OrthoDB; EOG091G006W; -.
DR PhylomeDB; A6NMS7; -.
DR TreeFam; TF341959; -.
DR ChiTaRS; LRRC37A; human.
DR GeneWiki; LRRC37A; -.
DR GenomeRNAi; 9884; -.
DR PRO; PR:A6NMS7; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000176681; -.
DR CleanEx; HS_LRRC37A; -.
DR ExpressionAtlas; A6NMS7; baseline and differential.
DR Genevisible; A6NMS7; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR015753; LRRC37.
DR InterPro; IPR032754; LRRC37_N.
DR InterPro; IPR029423; LRRC37AB_C.
DR PANTHER; PTHR23045; PTHR23045; 3.
DR Pfam; PF13855; LRR_8; 1.
DR Pfam; PF15779; LRRC37; 7.
DR Pfam; PF14914; LRRC37AB_C; 1.
DR SMART; SM00369; LRR_TYP; 4.
DR PROSITE; PS51450; LRR; 4.
PE 2: Evidence at transcript level;
KW Complete proteome; Glycoprotein; Leucine-rich repeat; Membrane;
KW Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1 35 {ECO:0000255}.
FT CHAIN 36 1700 Leucine-rich repeat-containing protein
FT 37A.
FT /FTId=PRO_0000337079.
FT TOPO_DOM 36 1582 Extracellular. {ECO:0000255}.
FT TRANSMEM 1583 1603 Helical. {ECO:0000255}.
FT TOPO_DOM 1604 1700 Cytoplasmic. {ECO:0000255}.
FT REPEAT 866 887 LRR 1.
FT REPEAT 890 911 LRR 2.
FT REPEAT 914 935 LRR 3.
FT REPEAT 938 959 LRR 4.
FT REPEAT 965 986 LRR 5.
FT CARBOHYD 296 296 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 1079 1079 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CONFLICT 58 58 E -> D (in Ref. 1; CAH18088 and 3;
FT AAH40501). {ECO:0000305}.
FT CONFLICT 349 349 P -> S (in Ref. 1; CAH18088 and 3;
FT AAH40501). {ECO:0000305}.
FT CONFLICT 370 370 P -> S (in Ref. 1; CAH18088 and 3;
FT AAH40501). {ECO:0000305}.
FT CONFLICT 377 377 P -> L (in Ref. 1; CAH18088 and 3;
FT AAH40501). {ECO:0000305}.
FT CONFLICT 406 406 A -> D (in Ref. 1; CAH18088 and 3;
FT AAH40501). {ECO:0000305}.
FT CONFLICT 440 440 T -> A (in Ref. 1; CAH18088 and 3;
FT AAH40501). {ECO:0000305}.
FT CONFLICT 552 552 T -> I (in Ref. 1; CAH18088).
FT {ECO:0000305}.
FT CONFLICT 558 558 K -> M (in Ref. 1; CAH18088 and 3;
FT AAH40501). {ECO:0000305}.
FT CONFLICT 630 630 P -> A (in Ref. 1; CAH18088 and 3;
FT AAH40501). {ECO:0000305}.
FT CONFLICT 776 776 R -> H (in Ref. 1; CAH18088 and 3;
FT AAH40501). {ECO:0000305}.
FT CONFLICT 785 785 R -> Q (in Ref. 1; CAH18088 and 3;
FT AAH40501). {ECO:0000305}.
FT CONFLICT 1255 1255 T -> A (in Ref. 1; CAH18088 and 3;
FT AAH40501). {ECO:0000305}.
FT CONFLICT 1288 1288 R -> G (in Ref. 1; CAH18088).
FT {ECO:0000305}.
FT CONFLICT 1384 1384 E -> G (in Ref. 3; AAH40501).
FT {ECO:0000305}.
FT CONFLICT 1693 1693 E -> G (in Ref. 3; AAH40501).
FT {ECO:0000305}.
SQ SEQUENCE 1700 AA; 188258 MW; F5DBA6389568D792 CRC64;
MSSAQCPALV CVMSRLRFWG PWPLLMWQLL WLLVKEAQPL EWVKDPLQLT SNPLGPPESW
SSHSSHFPRE SPHAPTLPAD PWDFDHLGPS ASSEMPAPPQ ESTENLVPFL DTWDSAGEQP
LEPEQFLASQ QDLKDKLSPQ ERLPVSPKKL KKDPAQRWSL AEIIGITRQL STPQSQKQTL
QNEYSSTDTP YPGSLPPELR VKSDEPPGPS EQVGPSQFHL EPETQNPETL EDIQSSSLQQ
EAPAQLPQLL EEEPSSMQQE APALPPESSM ESLTLPNHEV SVQPPGEDQA YYHLPNITVK
PADVEVTITS EPTNETESSQ AQQETPIQFP EEVEPSATQQ EAPIEPPVPP MEHELSISEQ
QQPVQPSESP REVESSPTQQ ETPGQPPEHH EVTVSPPGHH QTHHLASPSV SVKPPDVQLT
IAAEPSAEVG TSLVHQEATT RLSGSGNDVE PPAIQHGGPP LLPESSEEAG PLAVQQETSF
QSPEPINNEN PSPTQQEAAA EHPQTAEEGE SSLTHQEAPA QTPEFPNVVV AQPPEHSHLT
QATVQPLDLG FTITPESKTE VELSPTMKET PTQPPKKVVP QLRVYQGVTN PTPGQDQAQH
PVSPSVTVQL LDLGLTITPE PTTEVGHSTP PKRTIVSPKH PEVTLPHPDQ VQTQHSHLTR
ATVQPLDLGF TITPKSMTEV EPSTALMTTA PPPGHPEVTL PPSDKGQAQH SHLTQATVQP
LDLELTITTK PTTEVKPSPT TEETSTQPPD LGLAIIPEPT TETGHSTALE KTTAPRPDRV
QTLHRSLTEV TGPPTELEPA QDSLVQSESY TQNKALTAPE EHKASTSTNI CELCTCGDEM
LSCIDLNPEQ RLRQVPVPEP NTHNGTFTIL NFQGNYISYI DGNVWKAYSW TEKLILRENN
LTELHKDSFE GLLSLQYLDL SCNKIQSIER HTFEPLPFLK FINLSCNVIT ELSFGTFQAW
HGMQFLHKLI LNHNPLTTVE DPYLFKLPAL KYLDMGTTLV PLTTLKNILM MTVELEKLIL
PSHMACCLCQ FKNSIEAVCK TVKLHCNSAC LTNTTHCPEE ASVGNPEGAF MKVLQARKNY
TSTELIVEPE EPSDSSGINL SGFGSEQLDT NDESDFISTL SYILPYFSAV NLDVKSLLLP
FIKLPTTGNS LAKIQTVGQN RQRVKRVLMG PRSIQKRHFK EVGRQSIRRE QGAQASVENA
AEEKRLTSPA PREVEQPHTQ QGPEKLAGNA VYTKPSFTQE HKAAVSVLKP FSKGTPSTSS
PAKALPQVRD RSKDLTHAIS ILESAKARVT NTKTSKPIVH ARKKYRFHKT RSHVTHRTTK
VKKSPKVRKK SYLSRLMLAN RLPFSAAKSL INSPSQGAFS SLGDLSPQEN PFLEVSALSE
HFIEKNNTKH TTARNAFEEN DFMENTNMPE GTISENTNYN HPPEADSAGT AFNLGPTVKQ
TETKWEYNNV GTDLSPEPKS FNYPLLSSPG DQFEIQLTQQ LQSLIPNNNV RRLIAHVIRT
LKMDCSGAHV QVTCAKLISR TGHLMKLLSG QQEVKASKIE WDTDQWKIEN YINESTEAQS
EQKEKSLELK KEVPGYGYTD KLILALIVTG ILTILIILFC LIVICCHRRS LQEDEEGFSR
GIFRFLPWRG CSSRRESQDG LSSFGQPLWF KDLYKPLSAT RINNHAWKLH KKSSNEDKIL
NRDPGDSEAP TEEEESEALP
//
ID LYRM9_HUMAN Reviewed; 78 AA.
AC A8MSI8; A6NJT7; Q6X7B8;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 22-JUL-2008, sequence version 2.
DT 27-SEP-2017, entry version 65.
DE RecName: Full=LYR motif-containing protein 9;
GN Name=LYRM9; Synonyms=C17orf108; ORFNames=HSD24;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Fetal brain;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 17-78.
RC TISSUE=Testis;
RA Wu N., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.;
RT "A new spermatogenesis-related gene.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
CC -!- SIMILARITY: Belongs to the complex I LYR family. LYRM9 subfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAP20058.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=EAW51051.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; CR601114; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC005697; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471159; EAW51051.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AY251535; AAP20058.1; ALT_SEQ; mRNA.
DR CCDS; CCDS45631.1; -.
DR RefSeq; NP_001070148.1; NM_001076680.1.
DR RefSeq; XP_016879814.1; XM_017024325.1.
DR UniGene; Hs.687951; -.
DR ProteinModelPortal; A8MSI8; -.
DR PhosphoSitePlus; A8MSI8; -.
DR BioMuta; LYRM9; -.
DR PaxDb; A8MSI8; -.
DR PRIDE; A8MSI8; -.
DR Ensembl; ENST00000379102; ENSP00000368396; ENSG00000232859.
DR Ensembl; ENST00000379103; ENSP00000368397; ENSG00000232859.
DR GeneID; 201229; -.
DR KEGG; hsa:201229; -.
DR UCSC; uc002gzx.4; human.
DR CTD; 201229; -.
DR DisGeNET; 201229; -.
DR EuPathDB; HostDB:ENSG00000232859.9; -.
DR GeneCards; LYRM9; -.
DR HGNC; HGNC:27314; LYRM9.
DR HPA; HPA023051; -.
DR neXtProt; NX_A8MSI8; -.
DR OpenTargets; ENSG00000232859; -.
DR PharmGKB; PA165431642; -.
DR eggNOG; ENOG410J2V6; Eukaryota.
DR eggNOG; ENOG41128EA; LUCA.
DR GeneTree; ENSGT00390000002625; -.
DR HOGENOM; HOG000237835; -.
DR HOVERGEN; HBG108633; -.
DR InParanoid; A8MSI8; -.
DR PhylomeDB; A8MSI8; -.
DR TreeFam; TF335914; -.
DR GenomeRNAi; 201229; -.
DR PRO; PR:A8MSI8; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000232859; -.
DR ExpressionAtlas; A8MSI8; baseline and differential.
DR Genevisible; A8MSI8; HS.
DR InterPro; IPR008011; Complex1_LYR.
DR Pfam; PF05347; Complex1_LYR; 1.
PE 3: Inferred from homology;
KW Complete proteome; Reference proteome.
FT CHAIN 1 78 LYR motif-containing protein 9.
FT /FTId=PRO_0000345398.
SQ SEQUENCE 78 AA; 9374 MW; 3E572BC92CCB24C3 CRC64;
MAPLPGAELV RRPLQLYRYL LRCCQQLPTK GIQQHYKHAV RQSFRVHSDE DNPERIQQII
KRAIEDADWI MNKYKKQN
//
ID CQ100_HUMAN Reviewed; 118 AA.
AC A8MU93; D3DTM5;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 2.
DT 25-APR-2018, entry version 55.
DE RecName: Full=Uncharacterized protein C17orf100 {ECO:0000305};
GN Name=C17orf100 {ECO:0000312|HGNC:HGNC:34494};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
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DR EMBL; AC004706; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF573667; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471108; EAW90297.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW90298.1; -; Genomic_DNA.
DR EMBL; BC038956; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_001098990.1; NM_001105520.1.
DR UniGene; Hs.262480; -.
DR ProteinModelPortal; A8MU93; -.
DR SMR; A8MU93; -.
DR iPTMnet; A8MU93; -.
DR PhosphoSitePlus; A8MU93; -.
DR PaxDb; A8MU93; -.
DR PRIDE; A8MU93; -.
DR Ensembl; ENST00000542475; ENSP00000491070; ENSG00000256806.
DR Ensembl; ENST00000635042; ENSP00000491523; ENSG00000256806.
DR GeneID; 388327; -.
DR KEGG; hsa:388327; -.
DR CTD; 388327; -.
DR EuPathDB; HostDB:ENSG00000279257.1; -.
DR GeneCards; C17orf100; -.
DR HGNC; HGNC:34494; C17orf100.
DR HPA; HPA046824; -.
DR neXtProt; NX_A8MU93; -.
DR eggNOG; ENOG410J08P; Eukaryota.
DR eggNOG; ENOG41115QG; LUCA.
DR GeneTree; ENSGT00390000000359; -.
DR HOGENOM; HOG000111946; -.
DR HOVERGEN; HBG095412; -.
DR InParanoid; A8MU93; -.
DR OMA; SSHRVET; -.
DR OrthoDB; EOG091G12MK; -.
DR PhylomeDB; A8MU93; -.
DR TreeFam; TF338155; -.
DR GenomeRNAi; 388327; -.
DR PRO; PR:A8MU93; -.
DR Proteomes; UP000005640; Unplaced.
DR Bgee; ENSG00000279257; -.
DR CleanEx; HS_C17orf100; -.
DR ExpressionAtlas; D3DTM5; baseline and differential.
PE 4: Predicted;
KW Complete proteome; Reference proteome.
FT CHAIN 1 118 Uncharacterized protein C17orf100.
FT /FTId=PRO_0000340708.
SQ SEQUENCE 118 AA; 13000 MW; C28081B376813C9E CRC64;
MASARGAKQS SPRVGTTRYT ETSTVRVETS SHRVETSSRR VETSQRRSEG PSLSPSGKRL
PRILEASSRH VESSSQRTET TSRHVRASSL RVETSLHCAE SPTPRAKPAA RQNEKTAR
//
ID CQ098_HUMAN Reviewed; 154 AA.
AC A8MV24;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 1.
DT 22-NOV-2017, entry version 66.
DE RecName: Full=Uncharacterized protein C17orf98;
GN Name=C17orf98;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
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CC -----------------------------------------------------------------------
DR EMBL; AC006449; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471152; EAW60538.1; -; Genomic_DNA.
DR CCDS; CCDS42310.1; -.
DR RefSeq; NP_001073934.1; NM_001080465.2.
DR UniGene; Hs.250182; -.
DR ProteinModelPortal; A8MV24; -.
DR BioMuta; C17orf98; -.
DR PaxDb; A8MV24; -.
DR PRIDE; A8MV24; -.
DR Ensembl; ENST00000614158; ENSP00000479396; ENSG00000275489.
DR Ensembl; ENST00000619585; ENSP00000482299; ENSG00000276913.
DR GeneID; 388381; -.
DR KEGG; hsa:388381; -.
DR UCSC; uc002hqv.3; human.
DR CTD; 388381; -.
DR EuPathDB; HostDB:ENSG00000275489.1; -.
DR GeneCards; C17orf98; -.
DR HGNC; HGNC:34492; C17orf98.
DR HPA; HPA051696; -.
DR neXtProt; NX_A8MV24; -.
DR OpenTargets; ENSG00000275489; -.
DR PharmGKB; PA162378591; -.
DR eggNOG; ENOG410J1J5; Eukaryota.
DR eggNOG; ENOG4111VKW; LUCA.
DR GeneTree; ENSGT00390000004450; -.
DR HOGENOM; HOG000007685; -.
DR HOVERGEN; HBG098397; -.
DR InParanoid; A8MV24; -.
DR OMA; IVDYFHI; -.
DR OrthoDB; EOG091G0VIK; -.
DR PhylomeDB; A8MV24; -.
DR TreeFam; TF338072; -.
DR GenomeRNAi; 388381; -.
DR PRO; PR:A8MV24; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000275489; -.
DR Genevisible; A8MV24; HS.
DR InterPro; IPR028027; DUF4542.
DR PANTHER; PTHR34221; PTHR34221; 1.
DR Pfam; PF15075; DUF4542; 1.
PE 4: Predicted;
KW Complete proteome; Polymorphism; Reference proteome.
FT CHAIN 1 154 Uncharacterized protein C17orf98.
FT /FTId=PRO_0000340710.
FT VARIANT 61 61 P -> L (in dbSNP:rs7210156).
FT /FTId=VAR_044022.
SQ SEQUENCE 154 AA; 17565 MW; 8F1BAD4B79026747 CRC64;
MAYLSECRLR LEKGFILDGV AVSTAARAYG RSRPKLWSAI PPYNAQQDYH ARSYFQSHVV
PPLLRKTDQD HGGTGRDGWI VDYIHIFGQG QRYLNRRNWA GTGHSLQQVT GHDHYNADLK
PIDGFNGRFG YRRNTPALRQ STSVFGEVTH FPLF
//
ID F1712_HUMAN Reviewed; 826 AA.
AC A8MVW0; A8MQB4;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 1.
DT 22-NOV-2017, entry version 77.
DE RecName: Full=Protein FAM171A2;
DE Flags: Precursor;
GN Name=FAM171A2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-66.
RC TISSUE=Leukemic T-cell;
RX PubMed=19349973; DOI=10.1038/nbt.1532;
RA Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M.,
RA Schiess R., Aebersold R., Watts J.D.;
RT "Mass-spectrometric identification and relative quantification of N-
RT linked cell surface glycoproteins.";
RL Nat. Biotechnol. 27:378-386(2009).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-789, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the FAM171 family. {ECO:0000305}.
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DR EMBL; AC003043; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471178; EAW51598.1; -; Genomic_DNA.
DR CCDS; CCDS45701.1; -.
DR RefSeq; NP_940877.2; NM_198475.2.
DR UniGene; Hs.154001; -.
DR ProteinModelPortal; A8MVW0; -.
DR BioGrid; 129748; 32.
DR IntAct; A8MVW0; 1.
DR STRING; 9606.ENSP00000293443; -.
DR iPTMnet; A8MVW0; -.
DR PhosphoSitePlus; A8MVW0; -.
DR SwissPalm; A8MVW0; -.
DR BioMuta; FAM171A2; -.
DR EPD; A8MVW0; -.
DR MaxQB; A8MVW0; -.
DR PaxDb; A8MVW0; -.
DR PRIDE; A8MVW0; -.
DR Ensembl; ENST00000293443; ENSP00000293443; ENSG00000161682.
DR GeneID; 284069; -.
DR KEGG; hsa:284069; -.
DR UCSC; uc002igs.3; human.
DR CTD; 284069; -.
DR EuPathDB; HostDB:ENSG00000161682.14; -.
DR GeneCards; FAM171A2; -.
DR H-InvDB; HIX0013883; -.
DR HGNC; HGNC:30480; FAM171A2.
DR HPA; HPA019770; -.
DR neXtProt; NX_A8MVW0; -.
DR OpenTargets; ENSG00000161682; -.
DR PharmGKB; PA162387197; -.
DR eggNOG; ENOG410IEC0; Eukaryota.
DR eggNOG; ENOG410ZP57; LUCA.
DR GeneTree; ENSGT00530000063318; -.
DR HOGENOM; HOG000231925; -.
DR HOVERGEN; HBG057508; -.
DR InParanoid; A8MVW0; -.
DR OMA; QVFDNSD; -.
DR OrthoDB; EOG091G01Y7; -.
DR PhylomeDB; A8MVW0; -.
DR TreeFam; TF331338; -.
DR GenomeRNAi; 284069; -.
DR PRO; PR:A8MVW0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000161682; -.
DR CleanEx; HS_FAM171A2; -.
DR ExpressionAtlas; A8MVW0; baseline and differential.
DR Genevisible; A8MVW0; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR018890; Uncharacterised_FAM171.
DR PANTHER; PTHR31626; PTHR31626; 1.
DR Pfam; PF10577; UPF0560; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Glycoprotein; Membrane; Phosphoprotein;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1 29 {ECO:0000255}.
FT CHAIN 30 826 Protein FAM171A2.
FT /FTId=PRO_0000328771.
FT TOPO_DOM 30 315 Extracellular. {ECO:0000255}.
FT TRANSMEM 316 336 Helical. {ECO:0000255}.
FT TOPO_DOM 337 826 Cytoplasmic. {ECO:0000255}.
FT COMPBIAS 474 480 Poly-Pro.
FT COMPBIAS 550 607 Gly-rich.
FT COMPBIAS 715 722 Poly-Pro.
FT MOD_RES 370 370 Phosphoserine.
FT {ECO:0000250|UniProtKB:A2A699}.
FT MOD_RES 372 372 Phosphoserine.
FT {ECO:0000250|UniProtKB:A2A699}.
FT MOD_RES 789 789 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT CARBOHYD 66 66 N-linked (GlcNAc...) asparagine.
FT {ECO:0000269|PubMed:19349973}.
FT CARBOHYD 201 201 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 221 221 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 265 265 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
SQ SEQUENCE 826 AA; 87435 MW; 2845FC542702C3E0 CRC64;
MPPASGPSVL ARLLPLLGLL LGSASRAPGK SPPEPPSPQE ILIKVQVYVS GELVPLARAS
VDVFGNRTLL AAGTTDSEGV ATLPLSYRLG TWVLVTAARP GFLTNSVPWR VDKLPLYASV
SLYLLPERPA TLILYEDLVH ILLGSPGARS QPLVQFQRRA ARLPVSSTYS QLWASLTPAS
TQQEMRAFPA FLGTEASSSG NGSWLELMPL TAVSVHLLTG NGTEVPLSGP IHLSLPVPSE
TRALTVGTSI PAWRFDPKSG LWVRNGTGVI RKEGRQLYWT FVSPQLGYWV AAMASPTAGL
VTITSGIQDI GTYHTIFLLT ILAALALLVL ILLCLLIYYC RRRCLKPRQQ HRKLQLSGPS
DGNKRDQATS MSQLHLICGG PLEPAPSGDP EAPPPGPLHS AFSSSRDLAS SRDDFFRTKP
RSASRPAAEP SGARGGESAG LKGARSAEGP GGLEPGLEEH RRGPSGAAAF LHEPPSPPPP
FDHYLGHKGA AEGKTPDFLL SQSVDQLARP PSLGQAGQLI FCGSIDHLKD NVYRNVMPTL
VIPAHYVRLG GEAGAAGVGD EPAPPEGTAP GPARAFPQPD PQRPQMPGHS GPGGEGGGGG
GEGWGAGRAA PVSGSVTIPV LFNESTMAQL NGELQALTEK KLLELGVKPH PRAWFVSLDG
RSNSQVRHSY IDLQAGGGAR STDASLDSGV DVHEARPARR RPAREERERA PPAAPPPPPA
PPRLALSEDT EPSSSESRTG LCSPEDNSLT PLLDEVAAPE GRAATVPRGR GRSRGDSSRS
SASELRRDSL TSPEDELGAE VGDEAGDKKS PWQRREERPL MVFNVK
//
ID CF97D_HUMAN Reviewed; 164 AA.
AC B2RV13;
DT 23-MAR-2010, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-2008, sequence version 1.
DT 28-MAR-2018, entry version 67.
DE RecName: Full=Uncharacterized protein CFAP97D1 {ECO:0000305};
DE AltName: Full=CFAP97 domain-containing protein 1;
GN Name=CFAP97D1 {ECO:0000312|HGNC:HGNC:37241}; Synonyms=C17orf105;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
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DR EMBL; AC003098; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC146971; AAI46972.1; -; mRNA.
DR CCDS; CCDS45695.1; -.
DR RefSeq; NP_001129955.1; NM_001136483.1.
DR RefSeq; XP_011522935.1; XM_011524633.1.
DR UniGene; Hs.252707; -.
DR ProteinModelPortal; B2RV13; -.
DR BioGrid; 129747; 5.
DR IntAct; B2RV13; 1.
DR STRING; 9606.ENSP00000415662; -.
DR iPTMnet; B2RV13; -.
DR PhosphoSitePlus; B2RV13; -.
DR BioMuta; C17orf105; -.
DR PaxDb; B2RV13; -.
DR PRIDE; B2RV13; -.
DR Ensembl; ENST00000449302; ENSP00000415662; ENSG00000231256.
DR GeneID; 284067; -.
DR KEGG; hsa:284067; -.
DR UCSC; uc002ieg.4; human.
DR CTD; 284067; -.
DR EuPathDB; HostDB:ENSG00000231256.7; -.
DR GeneCards; C17orf105; -.
DR HGNC; HGNC:37241; CFAP97D1.
DR HPA; HPA053028; -.
DR neXtProt; NX_B2RV13; -.
DR OpenTargets; ENSG00000231256; -.
DR PharmGKB; PA165431514; -.
DR eggNOG; ENOG410IY4V; Eukaryota.
DR eggNOG; ENOG4111M02; LUCA.
DR GeneTree; ENSGT00390000018148; -.
DR HOGENOM; HOG000060244; -.
DR HOVERGEN; HBG076907; -.
DR InParanoid; B2RV13; -.
DR OMA; DFGHYIF; -.
DR OrthoDB; EOG091G112X; -.
DR PhylomeDB; B2RV13; -.
DR TreeFam; TF325279; -.
DR GenomeRNAi; 284067; -.
DR PRO; PR:B2RV13; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000231256; -.
DR ExpressionAtlas; B2RV13; baseline and differential.
DR Genevisible; B2RV13; HS.
DR InterPro; IPR029488; Hmw/KIAA1430.
DR Pfam; PF13879; KIAA1430; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; Complete proteome; Reference proteome.
FT CHAIN 1 164 Uncharacterized protein CFAP97D1.
FT /FTId=PRO_0000392549.
FT COILED 61 90 {ECO:0000255}.
SQ SEQUENCE 164 AA; 19546 MW; A8C00E583BE704F2 CRC64;
MNNSLDYLAY PVIVSNHRQS TTFRKKLDFG HYVSHKNRIQ IAKPTVDTKP PVAHTNHILK
LSKLQGEQKK INKIEYENKQ LCQKIANAHR GPAKVDCWNE YFSKSLNRET RNRELVRITM
ENQGILKRLV DRKPHYDRRA SEIDWQNSRR YIRNTTRYLL SQNE
//
ID T4S5_HUMAN Reviewed; 197 AA.
AC O14894; Q17RW9; Q6IB79;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 21-JUN-2005, sequence version 2.
DT 22-NOV-2017, entry version 114.
DE RecName: Full=Transmembrane 4 L6 family member 5;
DE AltName: Full=Tetraspan transmembrane protein L6H;
GN Name=TM4SF5;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=9479038; DOI=10.1016/S0378-1119(97)00633-1;
RA Mueller-Pillasch F., Wallrapp C., Lacher U., Friess H., Buchler M.,
RA Adler G., Gress T.M.;
RT "Identification of a new tumour-associated antigen TM4SF5 and its
RT expression in human cancer.";
RL Gene 208:25-30(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Liver;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- TISSUE SPECIFICITY: Intestine. Overexpressed in pancreatic
CC cancers.
CC -!- SIMILARITY: Belongs to the L6 tetraspanin family. {ECO:0000305}.
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DR EMBL; AF027204; AAB82947.1; -; mRNA.
DR EMBL; CR456925; CAG33206.1; -; mRNA.
DR EMBL; BC069519; AAH69519.1; -; mRNA.
DR EMBL; BC093688; AAH93688.1; -; mRNA.
DR EMBL; BC117163; AAI17164.1; -; mRNA.
DR CCDS; CCDS11054.1; -.
DR PIR; JC6544; JC6544.
DR RefSeq; NP_003954.2; NM_003963.2.
DR UniGene; Hs.184194; -.
DR ProteinModelPortal; O14894; -.
DR STRING; 9606.ENSP00000270560; -.
DR BioMuta; TM4SF5; -.
DR PaxDb; O14894; -.
DR PeptideAtlas; O14894; -.
DR PRIDE; O14894; -.
DR DNASU; 9032; -.
DR Ensembl; ENST00000270560; ENSP00000270560; ENSG00000142484.
DR GeneID; 9032; -.
DR KEGG; hsa:9032; -.
DR UCSC; uc002fyw.1; human.
DR CTD; 9032; -.
DR DisGeNET; 9032; -.
DR EuPathDB; HostDB:ENSG00000142484.6; -.
DR GeneCards; TM4SF5; -.
DR HGNC; HGNC:11857; TM4SF5.
DR HPA; HPA055674; -.
DR MIM; 604657; gene.
DR neXtProt; NX_O14894; -.
DR OpenTargets; ENSG00000142484; -.
DR PharmGKB; PA36558; -.
DR eggNOG; ENOG410IXVM; Eukaryota.
DR eggNOG; ENOG4111JUZ; LUCA.
DR GeneTree; ENSGT00390000010992; -.
DR HOGENOM; HOG000030899; -.
DR HOVERGEN; HBG000076; -.
DR InParanoid; O14894; -.
DR OMA; NRCRMLR; -.
DR OrthoDB; EOG091G0QEF; -.
DR PhylomeDB; O14894; -.
DR TreeFam; TF331371; -.
DR GeneWiki; TM4SF5; -.
DR GenomeRNAi; 9032; -.
DR PRO; PR:O14894; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000142484; -.
DR CleanEx; HS_TM4SF5; -.
DR Genevisible; O14894; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR InterPro; IPR008661; L6_membrane.
DR PANTHER; PTHR14198; PTHR14198; 1.
DR Pfam; PF05805; L6_membrane; 1.
PE 2: Evidence at transcript level;
KW Complete proteome; Glycoprotein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1 197 Transmembrane 4 L6 family member 5.
FT /FTId=PRO_0000219303.
FT TOPO_DOM 1 9 Cytoplasmic. {ECO:0000255}.
FT TRANSMEM 10 30 Helical. {ECO:0000255}.
FT TOPO_DOM 31 46 Extracellular. {ECO:0000255}.
FT TRANSMEM 47 67 Helical. {ECO:0000255}.
FT TOPO_DOM 68 90 Cytoplasmic. {ECO:0000255}.
FT TRANSMEM 91 111 Helical. {ECO:0000255}.
FT TOPO_DOM 112 157 Extracellular. {ECO:0000255}.
FT TRANSMEM 158 178 Helical. {ECO:0000255}.
FT TOPO_DOM 179 197 Cytoplasmic. {ECO:0000255}.
FT CARBOHYD 138 138 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 155 155 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CONFLICT 19 19 L -> F (in Ref. 1; AAB82947).
FT {ECO:0000305}.
SQ SEQUENCE 197 AA; 20823 MW; 051AEB5ECCE1075C CRC64;
MCTGKCARCV GLSLITLCLV CIVANALLLV PNGETSWTNT NHLSLQVWLM GGFIGGGLMV
LCPGIAAVRA GGKGCCGAGC CGNRCRMLRS VFSSAFGVLG AIYCLSVSGA GLRNGPRCLM
NGEWGYHFED TAGAYLLNRT LWDRCEAPPR VVPWNVTLFS LLVAASCLEI VLCGIQLVNA
TIGVFCGDCR KKQDTPH
//
ID ZZEF1_HUMAN Reviewed; 2961 AA.
AC O43149; A7MBM5; Q6NXG0; Q6ZRA1; Q6ZSF4; Q9NVB9;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 6.
DT 25-APR-2018, entry version 140.
DE RecName: Full=Zinc finger ZZ-type and EF-hand domain-containing protein 1;
GN Name=ZZEF1; Synonyms=KIAA0399;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
RP PRO-1972; VAL-2014 AND GLN-2369.
RC TISSUE=Brain;
RX PubMed=9455477; DOI=10.1093/dnares/4.5.307;
RA Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VIII.
RT 78 new cDNA clones from brain which code for large proteins in
RT vitro.";
RL DNA Res. 4:307-313(1997).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1614-2961 (ISOFORM 2), AND VARIANT
RP ALA-30.
RC TISSUE=Teratocarcinoma, and Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
RP PRO-1972; VAL-2014 AND GLN-2369.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=15519529; DOI=10.1016/j.ejca.2004.08.005;
RA Cvekl A. Jr., Zavadil J., Birshtein B.K., Grotzer M.A., Cvekl A.;
RT "Analysis of transcripts from 17p13.3 in medulloblastoma suggests
RT ROX/MNT as a potential tumour suppressor gene.";
RL Eur. J. Cancer 40:2525-2532(2004).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1509 AND SER-1518, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=16964243; DOI=10.1038/nbt1240;
RA Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.;
RT "A probability-based approach for high-throughput protein
RT phosphorylation analysis and site localization.";
RL Nat. Biotechnol. 24:1285-1292(2006).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1509 AND SER-1518, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1475, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-2667, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
RA Walther T.C., Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [12]
RP MYRISTOYLATION AT GLY-2.
RX PubMed=20213681; DOI=10.1002/pmic.200900783;
RA Suzuki T., Moriya K., Nagatoshi K., Ota Y., Ezure T., Ando E.,
RA Tsunasawa S., Utsumi T.;
RT "Strategy for comprehensive identification of human N-myristoylated
RT proteins using an insect cell-free protein synthesis system.";
RL Proteomics 10:1780-1793(2010).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [14]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [15]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-240; SER-1537; SER-1540
RP AND SER-2444, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [16]
RP MYRISTOYLATION AT GLY-2.
RX PubMed=24223779; DOI=10.1371/journal.pone.0078235;
RA Moriya K., Nagatoshi K., Noriyasu Y., Okamura T., Takamitsu E.,
RA Suzuki T., Utsumi T.;
RT "Protein N-myristoylation plays a critical role in the endoplasmic
RT reticulum morphological change induced by overexpression of protein
RT Lunapark, an integral membrane protein of the endoplasmic reticulum.";
RL PLoS ONE 8:E78235-E78235(2013).
RN [17]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1512 AND THR-1523, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA Wang L., Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT liver phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O43149-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O43149-2; Sequence=VSP_042268, VSP_042269, VSP_042270;
CC Note=Incomplete sequence. No experimental confirmation
CC available.;
CC Name=3;
CC IsoId=O43149-3; Sequence=VSP_036989, VSP_025870, VSP_025871;
CC Note=May be due to an intron retention. No experimental
CC confirmation available.;
CC -!- TISSUE SPECIFICITY: Expressed at low levels in cerebellum.
CC {ECO:0000269|PubMed:15519529}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA23695.4; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
CC Sequence=BAA91834.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
CC -----------------------------------------------------------------------
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DR EMBL; AB007859; BAA23695.4; ALT_INIT; mRNA.
DR EMBL; AK001683; BAA91834.1; ALT_INIT; mRNA.
DR EMBL; AK127482; BAC86999.1; -; mRNA.
DR EMBL; AC067815; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC087292; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC067099; AAH67099.1; -; mRNA.
DR EMBL; BC151836; AAI51837.1; -; mRNA.
DR CCDS; CCDS11043.1; -. [O43149-1]
DR PIR; T00048; T00048.
DR RefSeq; NP_055928.3; NM_015113.3. [O43149-1]
DR UniGene; Hs.277624; -.
DR ProteinModelPortal; O43149; -.
DR SMR; O43149; -.
DR BioGrid; 116757; 72.
DR ELM; O43149; -.
DR IntAct; O43149; 14.
DR MINT; O43149; -.
DR iPTMnet; O43149; -.
DR PhosphoSitePlus; O43149; -.
DR BioMuta; ZZEF1; -.
DR EPD; O43149; -.
DR MaxQB; O43149; -.
DR PaxDb; O43149; -.
DR PeptideAtlas; O43149; -.
DR PRIDE; O43149; -.
DR Ensembl; ENST00000381638; ENSP00000371051; ENSG00000074755. [O43149-1]
DR GeneID; 23140; -.
DR KEGG; hsa:23140; -.
DR UCSC; uc002fxe.4; human. [O43149-1]
DR CTD; 23140; -.
DR DisGeNET; 23140; -.
DR EuPathDB; HostDB:ENSG00000074755.14; -.
DR GeneCards; ZZEF1; -.
DR H-InvDB; HIX0017584; -.
DR HGNC; HGNC:29027; ZZEF1.
DR HPA; HPA031778; -.
DR HPA; HPA031790; -.
DR neXtProt; NX_O43149; -.
DR OpenTargets; ENSG00000074755; -.
DR PharmGKB; PA134938508; -.
DR eggNOG; ENOG410II3P; Eukaryota.
DR eggNOG; ENOG410XS5C; LUCA.
DR GeneTree; ENSGT00890000139411; -.
DR HOGENOM; HOG000155817; -.
DR HOVERGEN; HBG108782; -.
DR InParanoid; O43149; -.
DR OMA; SWCYLQL; -.
DR OrthoDB; EOG091G002U; -.
DR PhylomeDB; O43149; -.
DR TreeFam; TF331572; -.
DR ChiTaRS; ZZEF1; human.
DR GenomeRNAi; 23140; -.
DR PRO; PR:O43149; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000074755; -.
DR CleanEx; HS_ZZEF1; -.
DR ExpressionAtlas; O43149; baseline and differential.
DR Genevisible; O43149; HS.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR CDD; cd00051; EFh; 1.
DR Gene3D; 2.60.120.260; -; 1.
DR InterPro; IPR004939; APC_su10/DOC_dom.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR008979; Galactose-bd-like_sf.
DR InterPro; IPR000433; Znf_ZZ.
DR Pfam; PF03256; ANAPC10; 1.
DR Pfam; PF00569; ZZ; 2.
DR SMART; SM01337; APC10; 1.
DR SMART; SM00054; EFh; 1.
DR SMART; SM00291; ZnF_ZZ; 2.
DR SUPFAM; SSF47473; SSF47473; 1.
DR SUPFAM; SSF49785; SSF49785; 1.
DR PROSITE; PS51284; DOC; 1.
DR PROSITE; PS50222; EF_HAND_2; 1.
DR PROSITE; PS01357; ZF_ZZ_1; 1.
DR PROSITE; PS50135; ZF_ZZ_2; 2.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome; Lipoprotein;
KW Metal-binding; Myristate; Phosphoprotein; Polymorphism;
KW Reference proteome; Repeat; Zinc; Zinc-finger.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 2961 Zinc finger ZZ-type and EF-hand domain-
FT containing protein 1.
FT /FTId=PRO_0000289000.
FT DOMAIN 111 146 EF-hand. {ECO:0000255|PROSITE-
FT ProRule:PRU00448}.
FT DOMAIN 226 405 DOC. {ECO:0000255|PROSITE-
FT ProRule:PRU00614}.
FT ZN_FING 1777 1825 ZZ-type 1. {ECO:0000255|PROSITE-
FT ProRule:PRU00228}.
FT ZN_FING 1826 1872 ZZ-type 2. {ECO:0000255|PROSITE-
FT ProRule:PRU00228}.
FT MOD_RES 240 240 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 1475 1475 Phosphoserine.
FT {ECO:0000244|PubMed:19690332}.
FT MOD_RES 1488 1488 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q5SSH7}.
FT MOD_RES 1509 1509 Phosphoserine.
FT {ECO:0000244|PubMed:16964243,
FT ECO:0000244|PubMed:18669648}.
FT MOD_RES 1512 1512 Phosphothreonine.
FT {ECO:0000244|PubMed:24275569}.
FT MOD_RES 1518 1518 Phosphoserine.
FT {ECO:0000244|PubMed:16964243,
FT ECO:0000244|PubMed:18669648}.
FT MOD_RES 1521 1521 Phosphothreonine.
FT {ECO:0000250|UniProtKB:Q5SSH7}.
FT MOD_RES 1523 1523 Phosphothreonine.
FT {ECO:0000244|PubMed:24275569}.
FT MOD_RES 1537 1537 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 1540 1540 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 2444 2444 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 2667 2667 N6-acetyllysine.
FT {ECO:0000244|PubMed:19608861}.
FT LIPID 2 2 N-myristoyl glycine.
FT {ECO:0000269|PubMed:20213681,
FT ECO:0000269|PubMed:24223779}.
FT VAR_SEQ 1 1613 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_042268.
FT VAR_SEQ 882 882 M -> MK (in isoform 3).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_036989.
FT VAR_SEQ 1079 1084 LDVETW -> VTRVST (in isoform 3).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_025870.
FT VAR_SEQ 1085 2961 Missing (in isoform 3).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_025871.
FT VAR_SEQ 2405 2424 ILSIMLYSSKKEINALAEHG -> VRDERDSCSSFLVQMCW
FT PRS (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_042269.
FT VAR_SEQ 2425 2961 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_042270.
FT VARIANT 30 30 V -> A (in dbSNP:rs1454121).
FT {ECO:0000269|PubMed:14702039}.
FT /FTId=VAR_032551.
FT VARIANT 1021 1021 I -> V (in dbSNP:rs16953687).
FT /FTId=VAR_032552.
FT VARIANT 1437 1437 S -> A (in dbSNP:rs4790555).
FT /FTId=VAR_032553.
FT VARIANT 1972 1972 L -> P (in dbSNP:rs781852).
FT {ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9455477}.
FT /FTId=VAR_032554.
FT VARIANT 2014 2014 I -> V (in dbSNP:rs781831).
FT {ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9455477}.
FT /FTId=VAR_032555.
FT VARIANT 2051 2051 P -> S (in dbSNP:rs1006954).
FT /FTId=VAR_032556.
FT VARIANT 2301 2301 Y -> H (in dbSNP:rs34357158).
FT /FTId=VAR_032557.
FT VARIANT 2303 2303 L -> P (in dbSNP:rs35638819).
FT /FTId=VAR_032558.
FT VARIANT 2369 2369 E -> Q (in dbSNP:rs711177).
FT {ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9455477}.
FT /FTId=VAR_032559.
FT VARIANT 2421 2421 A -> T (in dbSNP:rs781861).
FT /FTId=VAR_032560.
FT CONFLICT 959 959 V -> A (in Ref. 1; BAA23695 and 5;
FT AAI51837). {ECO:0000305}.
FT CONFLICT 1929 1929 R -> H (in Ref. 3; BAA91834).
FT {ECO:0000305}.
SQ SEQUENCE 2961 AA; 331075 MW; 0DB2EB72C16BC168 CRC64;
MGNAPSHSSE DEAAAAGGEG WGPHQDWAAV SGTTPGPGVA APALPPAAAL LEPARLREAA
AALLPTPPCE SLVSRHRGAL FRWLEERLGR GEESVTLEQF RELLEARGAG CSSEQFEEAF
AQFDAEGDGT VDAENMLEAL KNSSGANLQG ELSHIIRQLQ ACSLVPGFTD IFSESKEGLD
IHSSMILRFL HRNRLSSAVM PYPMLEHCNN MCTMRSSVLK ESLDQLVQKE KESPGDLTRS
PEMDKLKSVA KCYAYIETSS NSADIDKMTN GETSSYWQSD GSACSHWIRL KMKPDVVLRH
LSIAVAATDQ SYMPQQVTVA VGRNASDLQE VRDVHIPSNV TGYVTLLENA NVSQLYVQIN
IKRCLSDGCD TRIHGLRAVG FQRVKKSGVS VSDASAIWYW SLLTSLVTAS METNPAFVQT
VLHNTQKALR HMPPLSLSPG STDFSTFLSP NVLEEVDSFL IRITSCCSTP EVELTLLAFA
LARGSVAKVM SSLCTITDHL DTQYDASSLI LSMASVRQNL LLKYGKPLQL TLQACDVKGK
EDKSGPENLL VEPWTRDGFL TETGKTRAST IFSTGTESAF QVTQIRIMVR RGGIGAQCGL
VFAYNSSSDK FCAEEHFKRF EKYDKWKLQE LRQFVKSRIG CSSDDLGEDD PIGWFELEEE
WDEADVKLQQ CRVAKYLMVK FLCTRQESAE RLGVQGLTIS GYLRPARAEA EQSVTCAHCR
KDTEESVCGA TLLLRTLQFI QQLAHDLVQQ KESGLKYKSF LDFAGLDLQI FWNFYSKLKQ
NPREECVSAQ TLLLQLLQSC FSVLQGDVLA ASEEEKAPIQ SPKGVEAAKE LYTHLCDVVD
KVDGDSVPME ILKQEVRNTL LNGAAIFFPN RQTRRNHLFT MMNVTEQEHK QSLQLTFRSL
CTYFSDKDPG GLLLLPEKND LAKMNISEVL AVMDTLVSVA ARECELLMLS GAPGEVGSVL
FSLFWSVQGS LLSWCYLQLK STDSGAKDLA VDLIEKYVGQ FLASMRAILE SLFSQYSGKT
IVERLCNSVF SMAARQLVIF LLDFCTLDIP HCVLLREFSV LTELLKKLCS GPEGGLRKLD
VETWQQEQPV VLHTWTKESA HNYENNCHEV SVFVSPGATY FEVEFDDRCE TEKRYDYLEF
TDARGRKTRY DTKVGTDKWP KKVTFKAGPR LQFLFHSDSS HNEWGYKFTV TACGLPDVAV
SWGLDLQLLV SRLMGRLASQ CMALKSVRQL GSNMVVPQAK MALVLSSPLW KPVFRHQVCP
ELELEASWPT HPHRNSKEVK NIPDDPCRHF LLDFAQSEPA QNFCGPYSEL FKGFIQACRK
QAPKTDIVAG STIDQAVNAT FAALVYRTPD LYEKLQKYVN SGGKIALSEE FAQVYSLADG
IRIWMLEMKQ KSLMSLGNEA EEKHSSEATE VNPESLAKEC IEKSLLLLKF LPTGISSKES
CEKLETADET SHLQPLNKRQ RTSSVVEEHF QASVSPTEAA PPATGDQSPG LGTQPKLPSS
SGLPAADVSP ATAEEPLSPS TPTRRPPFTR GRLRLLSFRS MEEARLVPTV KEKYPVLKDV
MDFIKDQSLS HRSVVKVLSL RKAQAQSILE VLKITQHCAE SLGQPHCFHP PFILFLLELL
TCQKDFTNYF GHLEGCGADL HKEIRDTYYQ LVLFLVKAVK GFSSLNDRSL LPALSCVQTA
LLHLLDMGWE PNDLAFFVDI QLPDLLMKMS QENISVHDSV ISQWSEEDEL ADAKQNSEWM
DECQDGMFEA WYEKIAQEDP EKQRKMHMFI ARYCDLLNVD ISCDGCDEIA PWHRYRCLQC
SDMDLCKTCF LGGVKPEGHG DDHEMVNMEF TCDHCQGLII GRRMNCNVCD DFDLCYGCYA
AKKYSYGHLP THSITAHPMV TIRISDRQRL IQPYIHNYSW LLFAALALYS AHLASAEDVD
GEKLDPQTRS SATTLRSQCM QLVGDCLMKA HQGKGLKALA LLGVLPDGDS SLEDQALPVT
VPTGASEEQL EKKAVQGAEL SEAGNGKRAV HEEIRPVDFK QRNKADKGVS LSKDPSCQTQ
ISDSPADASP PTGLPDAEDS EVSSQKPIEE KAVTPSPEQV FAECSQKRIL GLLAAMLPPL
KSGPTVPLID LEHVLPLMFQ VVISNAGHLN ETYHLTLGLL GQLIIRLLPA EVDAAVIKVL
SAKHNLFAAG DSSIVPDGWK TTHLLFSLGA VCLDSRVGLD WACSMAEILR SLNSAPLWRD
VIATFTDHCI KQLPFQLKHT NIFTLLVLVG FPQVLCVGTR CVYMDNANEP HNVIILKHFT
EKNRAVIVDV KTRKRKTVKD YQLVQKGGGQ ECGDSRAQLS QYSQHFAFIA SHLLQSSMDS
HCPEAVEATW VLSLALKGLY KTLKAHGFEE IRATFLQTDL LKLLVKKCSK GTGFSKTWLL
RDLEILSIML YSSKKEINAL AEHGDLELDE RGDREEEVER PVSSPGDPEQ KKLDPLEGLD
EPTRICFLMA HDALNAPLHI LRAIYELQMK KTDYFFLEVQ KRFDGDELTT DERIRSLAQR
WQPSKSLRLE EQSAKAVDTD MIILPCLSRP ARCDQATAES NPVTQKLISS TESELQQSYA
KQRRSKSAAL LHKELNCKSK RAVRDYLFRV NEATAVLYAR HVLASLLAEW PSHVPVSEDI
LELSGPAHMT YILDMFMQLE EKHEWEKILQ KVLQGCREDM LGTMALAACQ FMEEPGMEVQ
VRESKHPYNN NTNFEDKVHI PGAIYLSIKF DSQCNTEEGC DELAMSSSSD FQQDRHSFSG
SQQKWKDFEL PGDTLYYRFT SDMSNTEWGY RFTVTAGHLG RFQTGFEILK QMLSEERVVP
HLPLAKIWEW LVGVACRQTG HQRLKAIHLL LRIVRCCGHS DLCDLALLKP LWQLFTHMEY
GLFEDVTQPG ILLPLHRALT ELFFVTENRA QELGVLQDYL LALTTDDHLL RCAAQALQNI
AAISLAINYP NKATRLWNVE C
//
ID SNG2_HUMAN Reviewed; 224 AA.
AC O43760; O43762; Q3KQZ2; Q658S7;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-1998, sequence version 1.
DT 28-FEB-2018, entry version 156.
DE RecName: Full=Synaptogyrin-2 {ECO:0000305};
DE AltName: Full=Cellugyrin {ECO:0000250|UniProtKB:O54980};
GN Name=SYNGR2 {ECO:0000312|HGNC:HGNC:11499};
GN ORFNames=UNQ352/PRO615 {ECO:0000312|EMBL:AAQ89275.1};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND TISSUE
RP SPECIFICITY.
RX PubMed=9760194; DOI=10.1007/s004390050795;
RA Kedra D., Pan H.-Q., Seroussi E., Fransson I., Guilbaud C.,
RA Collins J.E., Dunham I., Blennow E., Roe B.A., Piehl F.,
RA Dumanski J.P.;
RT "Characterization of the human synaptogyrin gene family.";
RL Hum. Genet. 103:131-141(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale
RT effort to identify novel human secreted and transmembrane proteins: a
RT bioinformatics assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lung, Lymph, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PROTEIN SEQUENCE OF 1-18, ACETYLATION AT MET-1, AND IDENTIFICATION BY
RP MASS SPECTROMETRY.
RC TISSUE=B-cell lymphoma;
RA Bienvenut W.V.;
RL Submitted (FEB-2005) to UniProtKB.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 34-224 (ISOFORM 1).
RC TISSUE=Stomach;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22223895; DOI=10.1074/mcp.M111.015131;
RA Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C.,
RA Meinnel T., Giglione C.;
RT "Comparative large-scale characterisation of plant vs. mammal proteins
RT reveals similar and idiosyncratic N-alpha acetylation features.";
RL Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
RN [9]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-3, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [11]
RP FUNCTION (MICROBIAL INFECTION), INTERACTION WITH SFTS PHLEBOVIRUS NNS
RP PROTEIN (MICROBIAL INFECTION), SUBCELLULAR LOCATION (MICROBIAL
RP INFECTION), AND INDUCTION BY SFTS PHLEBOVIRUS (MICROBIAL INFECTION).
RX PubMed=27226560; DOI=10.1074/jbc.M116.715599;
RA Sun Q., Qi X., Zhang Y., Wu X., Liang M., Li C., Li D., Cardona C.J.,
RA Xing Z.;
RT "Synaptogyrin-2 promotes replication of a novel tick-borne bunyavirus
RT through interacting with viral nonstructural protein NSs.";
RL J. Biol. Chem. 291:16138-16149(2016).
CC -!- FUNCTION: May play a role in regulated exocytosis. In neuronal
CC cells, modulates the localization of synaptophysin/SYP into
CC synaptic-like microvesicles and may therefore play a role in the
CC formation and/or the maturation of this vesicles. May also play a
CC role in GLUT4 storage and transport to the plasma membrane.
CC {ECO:0000250|UniProtKB:O54980}.
CC -!- FUNCTION: (Microbial infection) May play a role in the assembly of
CC cytoplasmic inclusion bodies required for SFTS phlebovirus
CC replication. {ECO:0000269|PubMed:27226560}.
CC -!- SUBUNIT: (Microbial infection) Interacts with SFTS phlebovirus
CC protein NSs; may be involved in virus replication.
CC {ECO:0000269|PubMed:27226560}.
CC -!- INTERACTION:
CC Q6AZY7:SCARA3; NbExp=3; IntAct=EBI-2826419, EBI-8657660;
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane
CC {ECO:0000250|UniProtKB:O54980}; Multi-pass membrane protein
CC {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, synaptic
CC vesicle membrane {ECO:0000250|UniProtKB:O54980}; Multi-pass
CC membrane protein {ECO:0000255}. Note=Localizes to cytoplasmic
CC vesicles associated with the recycling endosomes.
CC {ECO:0000250|UniProtKB:O54980}.
CC -!- SUBCELLULAR LOCATION: Lipid droplet. Note=(Microbial infection)
CC Upon SFTS phlebovirus infection, the protein localizes in lipid
CC droplets and inclusion bodies. {ECO:0000269|PubMed:27226560}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O43760-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O43760-2; Sequence=VSP_056179;
CC Note=No experimental confirmation available.;
CC -!- TISSUE SPECIFICITY: Ubiquitous; low expression in brain.
CC {ECO:0000269|PubMed:9760194}.
CC -!- INDUCTION: (Microbial infection) Up-regulated upon SFTS
CC phlebovirus infection (at protein level).
CC {ECO:0000269|PubMed:27226560}.
CC -!- PTM: May be tyrosine phosphorylated by Src.
CC {ECO:0000250|UniProtKB:O54980}.
CC -!- SIMILARITY: Belongs to the synaptogyrin family. {ECO:0000305}.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AJ002308; CAA05325.1; -; mRNA.
DR EMBL; AJ002310; CAA05327.1; -; Genomic_DNA.
DR EMBL; AJ002312; CAA05327.1; JOINED; Genomic_DNA.
DR EMBL; AY358916; AAQ89275.1; -; mRNA.
DR EMBL; AC021593; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000407; AAH00407.1; -; mRNA.
DR EMBL; BC029755; AAH29755.1; -; mRNA.
DR EMBL; BC105992; AAI05993.1; -; mRNA.
DR EMBL; AL833010; CAH56291.1; -; mRNA.
DR CCDS; CCDS11753.1; -. [O43760-1]
DR RefSeq; NP_001307452.1; NM_001320523.1.
DR RefSeq; NP_004701.1; NM_004710.4. [O43760-1]
DR RefSeq; XP_005257849.1; XM_005257792.3. [O43760-2]
DR UniGene; Hs.464210; -.
DR UniGene; Hs.653473; -.
DR UniGene; Hs.708616; -.
DR ProteinModelPortal; O43760; -.
DR BioGrid; 114591; 23.
DR IntAct; O43760; 4.
DR MINT; O43760; -.
DR STRING; 9606.ENSP00000225777; -.
DR iPTMnet; O43760; -.
DR PhosphoSitePlus; O43760; -.
DR SwissPalm; O43760; -.
DR BioMuta; SYNGR2; -.
DR EPD; O43760; -.
DR MaxQB; O43760; -.
DR PaxDb; O43760; -.
DR PeptideAtlas; O43760; -.
DR PRIDE; O43760; -.
DR TopDownProteomics; O43760-1; -. [O43760-1]
DR DNASU; 9144; -.
DR Ensembl; ENST00000225777; ENSP00000225777; ENSG00000108639. [O43760-1]
DR Ensembl; ENST00000585591; ENSP00000465678; ENSG00000108639. [O43760-1]
DR Ensembl; ENST00000588282; ENSP00000467600; ENSG00000108639. [O43760-2]
DR GeneID; 9144; -.
DR KEGG; hsa:9144; -.
DR UCSC; uc002jut.4; human. [O43760-1]
DR CTD; 9144; -.
DR EuPathDB; HostDB:ENSG00000108639.7; -.
DR GeneCards; SYNGR2; -.
DR HGNC; HGNC:11499; SYNGR2.
DR HPA; HPA014742; -.
DR MIM; 603926; gene.
DR neXtProt; NX_O43760; -.
DR OpenTargets; ENSG00000108639; -.
DR PharmGKB; PA36281; -.
DR eggNOG; ENOG410ITZZ; Eukaryota.
DR eggNOG; ENOG4111G0F; LUCA.
DR GeneTree; ENSGT00510000046450; -.
DR HOGENOM; HOG000220816; -.
DR HOVERGEN; HBG000896; -.
DR InParanoid; O43760; -.
DR OrthoDB; EOG091G0LFH; -.
DR PhylomeDB; O43760; -.
DR TreeFam; TF320995; -.
DR ChiTaRS; SYNGR2; human.
DR GenomeRNAi; 9144; -.
DR PRO; PR:O43760; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000108639; -.
DR CleanEx; HS_SYNGR2; -.
DR ExpressionAtlas; O43760; baseline and differential.
DR Genevisible; O43760; HS.
DR GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR GO; GO:0005811; C:lipid droplet; IEA:UniProtKB-SubCell.
DR GO; GO:0031594; C:neuromuscular junction; IBA:GO_Central.
DR GO; GO:0030672; C:synaptic vesicle membrane; ISS:UniProtKB.
DR GO; GO:0045055; P:regulated exocytosis; ISS:UniProtKB.
DR GO; GO:0048499; P:synaptic vesicle membrane organization; ISS:UniProtKB.
DR InterPro; IPR008253; Marvel.
DR InterPro; IPR016579; Synaptogyrin.
DR PANTHER; PTHR10838; PTHR10838; 1.
DR Pfam; PF01284; MARVEL; 1.
DR PIRSF; PIRSF011282; Synaptogyrin; 1.
DR PROSITE; PS51225; MARVEL; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Cell junction; Complete proteome;
KW Cytoplasmic vesicle; Direct protein sequencing; Lipid droplet;
KW Membrane; Phosphoprotein; Reference proteome; Synapse; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1 224 Synaptogyrin-2.
FT /FTId=PRO_0000183993.
FT TRANSMEM 26 46 Helical. {ECO:0000255}.
FT TRANSMEM 73 93 Helical. {ECO:0000255}.
FT TRANSMEM 105 125 Helical. {ECO:0000255}.
FT TRANSMEM 147 167 Helical. {ECO:0000255}.
FT DOMAIN 20 171 MARVEL. {ECO:0000255|PROSITE-
FT ProRule:PRU00581}.
FT MOD_RES 1 1 N-acetylmethionine.
FT {ECO:0000244|PubMed:22223895,
FT ECO:0000244|PubMed:22814378,
FT ECO:0000269|Ref.5}.
FT MOD_RES 3 3 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT VAR_SEQ 160 224 GVLASLAYQRYKAGVDDFIQNYVDPTPDPNTAYASYPGASV
FT DNYQQPPFTQNAETTEGYQPPPVY -> VGWPGAGSWVKGG
FT GGWGPPPTCTLLCSPCRVCWPPWPTSATRLAWTTSSRITLT
FT PLRTPTLPTPPTQVHLWTTTNSHPSPRTRRPPRATSRPLCT
FT ERRLAWEGGQRGPSPLPWTFP (in isoform 2).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_056179.
FT CONFLICT 160 162 GVL -> VGW (in Ref. 1; CAA05327).
FT {ECO:0000305}.
SQ SEQUENCE 224 AA; 24810 MW; EC92C95CE9E5BD41 CRC64;
MESGAYGAAK AGGSFDLRRF LTQPQVVARA VCLVFALIVF SCIYGEGYSN AHESKQMYCV
FNRNEDACRY GSAIGVLAFL ASAFFLVVDA YFPQISNATD RKYLVIGDLL FSALWTFLWF
VGFCFLTNQW AVTNPKDVLV GADSVRAAIT FSFFSIFSWG VLASLAYQRY KAGVDDFIQN
YVDPTPDPNT AYASYPGASV DNYQQPPFTQ NAETTEGYQP PPVY
//
ID MFS11_HUMAN Reviewed; 449 AA.
AC O43934; O43442; Q9NXI5;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-OCT-2007, sequence version 2.
DT 28-MAR-2018, entry version 113.
DE RecName: Full=UNC93-like protein MFSD11;
DE AltName: Full=Major facilitator superfamily domain-containing protein 11;
DE AltName: Full=Protein ET;
GN Name=MFSD11; Synonyms=ET;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND VARIANT PHE-428.
RX PubMed=9358160; DOI=10.1093/nar/25.22.4513;
RA Sureau A., Soret J., Guyon C., Gaillard C., Dumon S., Keller M.,
RA Crisanti P., Perbal B.;
RT "Characterization of multiple alternative RNAs resulting from
RT antisense transcription of the PR264/SC35 splicing factor gene.";
RL Nucleic Acids Res. 25:4513-4522(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon mucosa;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, and Cervix;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O43934-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O43934-2; Sequence=VSP_028187;
CC -!- SIMILARITY: Belongs to the unc-93 family. {ECO:0000305}.
CC -!- CAUTION: Despite its name, it is related to the unc-93 family and
CC not to the major facilitator superfamily. {ECO:0000305}.
CC -----------------------------------------------------------------------
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CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AF015184; AAB92495.1; -; mRNA.
DR EMBL; AF015185; AAB92496.1; -; mRNA.
DR EMBL; AF015186; AAB92497.1; -; mRNA.
DR EMBL; AK000233; BAA91025.1; -; mRNA.
DR EMBL; CH471099; EAW89449.1; -; Genomic_DNA.
DR EMBL; CH471099; EAW89452.1; -; Genomic_DNA.
DR EMBL; BC002753; AAH02753.1; -; mRNA.
DR EMBL; BC062563; AAH62563.1; -; mRNA.
DR CCDS; CCDS11750.1; -. [O43934-1]
DR CCDS; CCDS56045.1; -. [O43934-2]
DR RefSeq; NP_001229461.1; NM_001242532.1. [O43934-1]
DR RefSeq; NP_001229462.1; NM_001242533.1. [O43934-1]
DR RefSeq; NP_001229463.1; NM_001242534.1. [O43934-1]
DR RefSeq; NP_001229464.1; NM_001242535.1. [O43934-1]
DR RefSeq; NP_001229465.1; NM_001242536.1. [O43934-2]
DR RefSeq; NP_001229466.1; NM_001242537.1. [O43934-2]
DR RefSeq; NP_077287.1; NM_024311.3. [O43934-1]
DR RefSeq; XP_016880555.1; XM_017025066.1.
DR RefSeq; XP_016880556.1; XM_017025067.1.
DR UniGene; Hs.732019; -.
DR UniGene; Hs.73965; -.
DR ProteinModelPortal; O43934; -.
DR BioGrid; 122575; 5.
DR STRING; 9606.ENSP00000337240; -.
DR iPTMnet; O43934; -.
DR PhosphoSitePlus; O43934; -.
DR BioMuta; MFSD11; -.
DR PaxDb; O43934; -.
DR PeptideAtlas; O43934; -.
DR PRIDE; O43934; -.
DR Ensembl; ENST00000336509; ENSP00000337240; ENSG00000092931. [O43934-1]
DR Ensembl; ENST00000355954; ENSP00000348225; ENSG00000092931. [O43934-2]
DR Ensembl; ENST00000586622; ENSP00000466613; ENSG00000092931. [O43934-1]
DR Ensembl; ENST00000588460; ENSP00000464932; ENSG00000092931. [O43934-1]
DR Ensembl; ENST00000590514; ENSP00000468309; ENSG00000092931. [O43934-1]
DR Ensembl; ENST00000593181; ENSP00000466782; ENSG00000092931. [O43934-2]
DR Ensembl; ENST00000621483; ENSP00000485005; ENSG00000092931. [O43934-1]
DR GeneID; 79157; -.
DR KEGG; hsa:79157; -.
DR UCSC; uc002jta.3; human. [O43934-1]
DR CTD; 79157; -.
DR EuPathDB; HostDB:ENSG00000092931.11; -.
DR GeneCards; MFSD11; -.
DR H-InvDB; HIX0014205; -.
DR HGNC; HGNC:25458; MFSD11.
DR HPA; HPA022001; -.
DR neXtProt; NX_O43934; -.
DR OpenTargets; ENSG00000092931; -.
DR PharmGKB; PA162395841; -.
DR eggNOG; KOG3098; Eukaryota.
DR eggNOG; ENOG410ZITE; LUCA.
DR GeneTree; ENSGT00390000012918; -.
DR HOGENOM; HOG000008022; -.
DR HOVERGEN; HBG052950; -.
DR InParanoid; O43934; -.
DR OMA; HTIGRNS; -.
DR OrthoDB; EOG091G089A; -.
DR PhylomeDB; O43934; -.
DR ChiTaRS; MFSD11; human.
DR GenomeRNAi; 79157; -.
DR PRO; PR:O43934; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000092931; -.
DR CleanEx; HS_MFSD11; -.
DR ExpressionAtlas; O43934; baseline and differential.
DR Genevisible; O43934; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR CDD; cd06174; MFS; 1.
DR InterPro; IPR010291; Ion_channel_UNC-93.
DR InterPro; IPR020846; MFS_dom.
DR InterPro; IPR036259; MFS_trans_sf.
DR Pfam; PF05978; UNC-93; 1.
DR SUPFAM; SSF103473; SSF103473; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Glycoprotein; Membrane;
KW Phosphoprotein; Polymorphism; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1 449 UNC93-like protein MFSD11.
FT /FTId=PRO_0000305019.
FT TRANSMEM 8 28 Helical. {ECO:0000255}.
FT TRANSMEM 53 73 Helical. {ECO:0000255}.
FT TRANSMEM 74 94 Helical. {ECO:0000255}.
FT TRANSMEM 96 116 Helical. {ECO:0000255}.
FT TRANSMEM 138 158 Helical. {ECO:0000255}.
FT TRANSMEM 170 190 Helical. {ECO:0000255}.
FT TRANSMEM 239 259 Helical. {ECO:0000255}.
FT TRANSMEM 277 297 Helical. {ECO:0000255}.
FT TRANSMEM 309 329 Helical. {ECO:0000255}.
FT TRANSMEM 359 379 Helical. {ECO:0000255}.
FT TRANSMEM 385 405 Helical. {ECO:0000255}.
FT TRANSMEM 410 430 Helical. {ECO:0000255}.
FT MOD_RES 204 204 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8BJ51}.
FT CARBOHYD 40 40 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT VAR_SEQ 114 165 Missing (in isoform 2).
FT {ECO:0000303|PubMed:9358160}.
FT /FTId=VSP_028187.
FT VARIANT 428 428 S -> F (in dbSNP:rs3198672).
FT {ECO:0000269|PubMed:9358160}.
FT /FTId=VAR_035151.
SQ SEQUENCE 449 AA; 49202 MW; B45219CA5894FCDC CRC64;
MSPESKKLFN IIILGVAFMF MFTAFQTCGN VAQTVIRSLN RTDFHGSGYT SMAIIYGVFS
ASNLITPSVV AIVGPQLSMF ASGLFYSMYI AVFIQPFPWS FYTASVFIGI AAAVLWTAQG
NCLTINSDEH SIGRNSGIFW ALLQSSLFFG NLYIYFAWQG KTQISESDRR TVFIALTVIS
LVGTVLFFLI RKPDSENVLG EDESSDDQDM EVNESAQNNL TKAVDAFKKS FKLCVTKEML
LLSITTAYTG LELTFFSGVY GTCIGATNKF GAEEKSLIGL SGIFIGIGEI LGGSLFGLLS
KNNRFGRNPV VLLGILVHFI AFYLIFLNMP GDAPIAPVKG TDSSAYIKSS KEVAILCSFL
LGLGDSCFNT QLLSILGFLY SEDSAPAFAI FKFVQSICAA VAFFYSNYLL LHWQLLVMVI
FGFFGTISFF TVEWEAAAFV ARGSDYRSI
//
ID L37A3_HUMAN Reviewed; 1634 AA.
AC O60309; Q49A01; Q49A80; Q8NB33;
DT 21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT 06-DEC-2005, sequence version 2.
DT 28-FEB-2018, entry version 130.
DE RecName: Full=Leucine-rich repeat-containing protein 37A3;
DE Flags: Precursor;
GN Name=LRRC37A3; Synonyms=KIAA0563;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX.
RT The complete sequences of 100 new cDNA clones from brain which can
RT code for large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
RN [2]
RP SEQUENCE REVISION.
RA Ohara O., Nagase T., Kikuno R., Ishikawa K.;
RL Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1019-1634.
RC TISSUE=Fetal brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the LRRC37A family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA25489.3; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC03710.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -----------------------------------------------------------------------
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DR EMBL; AB011135; BAA25489.3; ALT_INIT; mRNA.
DR EMBL; BC043145; AAH43145.1; -; mRNA.
DR EMBL; AK091625; BAC03710.1; ALT_INIT; mRNA.
DR CCDS; CCDS32708.1; -.
DR RefSeq; NP_955372.2; NM_199340.3.
DR UniGene; Hs.551962; -.
DR UniGene; Hs.744157; -.
DR UniGene; Hs.744758; -.
DR ProteinModelPortal; O60309; -.
DR STRING; 9606.ENSP00000325713; -.
DR iPTMnet; O60309; -.
DR PhosphoSitePlus; O60309; -.
DR BioMuta; LRRC37A3; -.
DR EPD; O60309; -.
DR PaxDb; O60309; -.
DR PeptideAtlas; O60309; -.
DR PRIDE; O60309; -.
DR Ensembl; ENST00000319651; ENSP00000325713; ENSG00000176809.
DR Ensembl; ENST00000584306; ENSP00000464535; ENSG00000176809.
DR GeneID; 374819; -.
DR KEGG; hsa:374819; -.
DR UCSC; uc002jey.3; human.
DR CTD; 374819; -.
DR DisGeNET; 374819; -.
DR EuPathDB; HostDB:ENSG00000176809.10; -.
DR GeneCards; LRRC37A3; -.
DR H-InvDB; HIX0026017; -.
DR H-InvDB; HIX0027304; -.
DR H-InvDB; HIX0027323; -.
DR HGNC; HGNC:32427; LRRC37A3.
DR HPA; HPA042121; -.
DR HPA; HPA042701; -.
DR HPA; HPA043056; -.
DR HPA; HPA045090; -.
DR MIM; 616557; gene.
DR neXtProt; NX_O60309; -.
DR OpenTargets; ENSG00000176809; -.
DR PharmGKB; PA162394563; -.
DR eggNOG; ENOG410IJNR; Eukaryota.
DR eggNOG; ENOG410YV94; LUCA.
DR GeneTree; ENSGT00530000063282; -.
DR HOGENOM; HOG000113269; -.
DR HOVERGEN; HBG100009; -.
DR InParanoid; O60309; -.
DR OMA; VILMEAP; -.
DR OrthoDB; EOG091G006W; -.
DR PhylomeDB; O60309; -.
DR TreeFam; TF341959; -.
DR ChiTaRS; LRRC37A3; human.
DR GenomeRNAi; 374819; -.
DR PRO; PR:O60309; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000176809; -.
DR CleanEx; HS_LRRC37A3; -.
DR ExpressionAtlas; O60309; baseline and differential.
DR Genevisible; O60309; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR015753; LRRC37.
DR InterPro; IPR032754; LRRC37_N.
DR InterPro; IPR029423; LRRC37AB_C.
DR PANTHER; PTHR23045; PTHR23045; 3.
DR Pfam; PF13855; LRR_8; 1.
DR Pfam; PF15779; LRRC37; 6.
DR Pfam; PF14914; LRRC37AB_C; 1.
DR SMART; SM00369; LRR_TYP; 4.
DR PROSITE; PS51450; LRR; 4.
PE 2: Evidence at transcript level;
KW Complete proteome; Glycoprotein; Leucine-rich repeat; Membrane;
KW Polymorphism; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1 35 {ECO:0000255}.
FT CHAIN 36 1634 Leucine-rich repeat-containing protein
FT 37A3.
FT /FTId=PRO_0000076244.
FT TOPO_DOM 36 1581 Extracellular. {ECO:0000255}.
FT TRANSMEM 1582 1602 Helical. {ECO:0000255}.
FT TOPO_DOM 1603 1634 Cytoplasmic. {ECO:0000255}.
FT REPEAT 137 160 LRR 1.
FT REPEAT 230 253 LRR 2.
FT REPEAT 267 290 LRR 3.
FT REPEAT 864 887 LRR 4.
FT REPEAT 888 911 LRR 5.
FT REPEAT 912 935 LRR 6.
FT REPEAT 937 959 LRR 7.
FT REPEAT 963 987 LRR 8.
FT REPEAT 1002 1027 LRR 9.
FT REPEAT 1124 1146 LRR 10.
FT REPEAT 1151 1176 LRR 11.
FT REPEAT 1359 1384 LRR 12.
FT CARBOHYD 296 296 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 1079 1079 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT VARIANT 1215 1215 K -> E (in dbSNP:rs9893710).
FT /FTId=VAR_051088.
FT VARIANT 1590 1590 G -> A (in dbSNP:rs28532307).
FT /FTId=VAR_061672.
FT CONFLICT 51 51 S -> P (in Ref. 3; AAH43145).
FT {ECO:0000305}.
FT CONFLICT 1086 1086 I -> T (in Ref. 3; AAH43145).
FT {ECO:0000305}.
FT CONFLICT 1417 1417 T -> A (in Ref. 3; AAH43145).
FT {ECO:0000305}.
FT CONFLICT 1419 1419 Y -> H (in Ref. 4; BAC03710).
FT {ECO:0000305}.
FT CONFLICT 1619 1619 S -> P (in Ref. 4; BAC03710).
FT {ECO:0000305}.
SQ SEQUENCE 1634 AA; 180621 MW; 84C8F93290B29EB1 CRC64;
MTSAQCPALA CVMSPLRFWG PWPLLMWQLL WLLVKEAQPL EWVKDPLQLT SNPLGPPEPW
SSHSSHFPRE SPHAPTLPAD PWDFDHLGPS ASSEMPAPPQ ESTENLVPFL DTWDSAGELP
LEPEQFLASQ QDLKDKLSPQ ERLPVSPKKL KKDPAQRWSL AEIIGIIHQL STPQSQKQTL
QNEYSSTDTP YPGSLPPELR VKSDEPPGPS EQVGPSQFHL EPETQNPETL EDIQSSSLQQ
EAPAQLPQLL EEEPSSMQQE APALPPESSM ESLTLPNHEV SVQPPGEDQA YYHLPNITVK
PADVEVTITS EPTNETESSQ AQQETPIQFP EEVEPSATQQ EAPIEPPVPP MEHELSISEQ
QQPVQPSESS REVESSPTQQ ETPGQPPEHH EVTVSPPGHH QTHHLASPSV SVKPPDVQLT
IAAEPSAEVG TSLVHQEATT RLSGSGNDVE PPAIQHGGPP LLPESSEEAG PLAVQQETSF
QSPEPINNEN PSPTQQEAAA EHPQTAEEGE SSLTHQEAPA QTPEFPNVVV AQPPEHSHLT
QATVQPLDLG FTITPESMTE VELSPTMKET PTQPPKKVVP QLRVYQGVTN PTPGQDQAQH
PVSPSVTVQL LDLGLTITPE PTTEVGHSTP PKRTIVSPKH PEVTLPHPDQ VQTQHSHLTR
ATVQPLDLGF TITPKSMTEV EPSTALMTTA PPPGHPEVTL PPSDKGQAQH SHLTQATVQP
LDLELTITTK PTTEVKPSPT TEETSTQLPD LGLAIIPEPT TETGHSTALE KTTAPRPDRV
QTLHRSLTEV TGPPTELEPA QDSLVQSESY TQNKALTAPE EHKASTSTNI CELCTCGDEM
LSCIDLNPEQ RLRQVPVPEP NTHNGTFTIL NFQGNYISYI DGNVWKAYSW TEKLILRENN
LTELHKDSFE GLLSLQYLDL SCNKIQSIER HTFEPLPFLK FINLSCNVIT ELSFGTFQAW
HGMQFLHKLI LNHNPLTTVE DPYLFKLPAL KYLDMGTTLV PLTTLKNILM MTVELEKLIV
PSHMACCLCQ FKNSIEAVCK TVKLHCNSAC LTNTTHCPEE ASVGNPEGAF MKVLQARKNY
TSTELIIEPE EPSDSSGINL SGFGSEQLDT NDESDVTSTL SYILPYFSAV NLDVKSLLLP
FIKLPTTGNS LAKIQTVGKN RQRLNRVLMG PRSIQKRHFK EVGRQSIRRE QGAQASVENT
AEEKRLGSPA PRELKQPHTQ QGPEKLAGNA VYTKPSFTQE HKAAVSVLKP FSKGAPSTSS
PAKALPQVRD RWKDLTHAIS ILESAKARVT NMKTSKPIVH SRKKYRFHKT RSRMTHRTPK
VKKSPKVRKK SYLSRLMLSN RLPFSAAKSL INSPSQGAFS SLRDLSPQEN PFLEVSAPSE
HFIENNNTKD TTARNAFEEN VFMENTNMPE GTISENTNYN HPPEADSAGT AFNLGPTVKQ
TETKWEYNNV GTDLSPEPKS FNYPLLSSPG DQFEIQLTQQ LQSVIPNNNV RRLIAHVIRT
LKMDCSGAHV QVTCAKLVSR TGHLMKLLSG QQEVKASKIE WDTDQWKTEN YINESTEAQS
EQKEKSLEFT KELPGYGYTK KLILALIVTG ILTILIILLC LIEICCHRRS LQEDEEGFSR
DSEAPTEEES EALP
//
ID NARR_HUMAN Reviewed; 198 AA.
AC P0DI83;
DT 21-SEP-2011, integrated into UniProtKB/Swiss-Prot.
DT 21-SEP-2011, sequence version 1.
DT 28-FEB-2018, entry version 41.
DE RecName: Full=Ras-related protein Rab-34, isoform NARR;
DE AltName: Full=Nine amino-acid residue-repeats;
GN Name=RAB34; Synonyms=NARR;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP PROTEIN SEQUENCE OF 2-26; 65-71; 74-109; 119-125; 128-145; 155-171 AND
RP 186-193, CLEAVAGE OF INTIATOR METHIONINE, REPEATS, SUBCELLULAR
RP LOCATION, INTERACTION WITH EIF5A AND ERF1, AND PHOSPHORYLATION AT
RP SER-13; THR-69; SER-78; SER-87; SER-96 AND SER-123.
RX PubMed=21586586; DOI=10.1093/nar/gkr273;
RA Zougman A., Mann M., Wisniewski J.R.;
RT "Identification and characterization of a novel ubiquitous nucleolar
RT protein 'NARR' encoded by a gene overlapping the rab34 oncogene.";
RL Nucleic Acids Res. 39:7103-7113(2011).
CC -!- SUBUNIT: May interact with EIF5A and ERF1.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21586586}.
CC Nucleus, nucleolus {ECO:0000269|PubMed:21586586}. Note=Colocalizes
CC with rDNA clusters.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=NARR;
CC IsoId=P0DI83-1; Sequence=Displayed;
CC Name=1;
CC IsoId=Q9BZG1-1; Sequence=External;
CC Name=2;
CC IsoId=Q9BZG1-2; Sequence=External;
CC Name=4;
CC IsoId=Q9BZG1-4; Sequence=External;
CC Note=No experimental confirmation available.;
CC -!- PTM: Phosphorylated during M-phase. {ECO:0000269|PubMed:21586586}.
CC -!- CAUTION: Shares its exons with RAB34, but the first 5'-exon is
CC longer and the translation ccurs 443 base pairs upstream from
CC RAB34 initiator, in another frame. May be produced by an
CC alternative promoter. {ECO:0000305}.
CC -----------------------------------------------------------------------
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CC -----------------------------------------------------------------------
DR EMBL; AC010761; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CX872465; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_001243210.1; NM_001256281.2. [P0DI83-1]
DR UniGene; Hs.301853; -.
DR ProteinModelPortal; P0DI83; -.
DR SMR; P0DI83; -.
DR IntAct; P0DI83; 1.
DR iPTMnet; P0DI83; -.
DR PhosphoSitePlus; P0DI83; -.
DR SwissPalm; P0DI83; -.
DR BioMuta; RAB34; -.
DR DMDM; 347602360; -.
DR EPD; P0DI83; -.
DR PeptideAtlas; P0DI83; -.
DR PRIDE; P0DI83; -.
DR Ensembl; ENST00000636154; ENSP00000490450; ENSG00000109113. [P0DI83-1]
DR GeneID; 83871; -.
DR CTD; 83871; -.
DR DisGeNET; 83871; -.
DR GeneCards; RAB34; -.
DR HGNC; HGNC:16519; RAB34.
DR neXtProt; NX_P0DI83; -.
DR OpenTargets; ENSG00000109113; -.
DR GeneTree; ENSGT00910000144073; -.
DR ChiTaRS; RAB34; human.
DR GenomeRNAi; 100861437; -.
DR Proteomes; UP000005640; Chromosome 17.
DR ExpressionAtlas; P0DI83; baseline and differential.
DR GO; GO:0005730; C:nucleolus; IEA:UniProtKB-SubCell.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Direct protein sequencing;
KW Nucleus; Phosphoprotein; Reference proteome; Repeat.
FT INIT_MET 1 1 Removed. {ECO:0000269|PubMed:21586586}.
FT CHAIN 2 198 Ras-related protein Rab-34, isoform NARR.
FT /FTId=PRO_0000412533.
FT REPEAT 7 15 1. {ECO:0000269|PubMed:21586586}.
FT REPEAT 16 24 2. {ECO:0000269|PubMed:21586586}.
FT REPEAT 25 33 3. {ECO:0000269|PubMed:21586586}.
FT REPEAT 34 42 4. {ECO:0000269|PubMed:21586586}.
FT REPEAT 43 51 5. {ECO:0000269|PubMed:21586586}.
FT REPEAT 52 60 6. {ECO:0000269|PubMed:21586586}.
FT REPEAT 61 69 7. {ECO:0000269|PubMed:21586586}.
FT REPEAT 70 78 8. {ECO:0000269|PubMed:21586586}.
FT REPEAT 79 87 9. {ECO:0000269|PubMed:21586586}.
FT REPEAT 88 96 10. {ECO:0000269|PubMed:21586586}.
FT REPEAT 97 105 11. {ECO:0000269|PubMed:21586586}.
FT REPEAT 106 114 12. {ECO:0000269|PubMed:21586586}.
FT REPEAT 115 123 13. {ECO:0000269|PubMed:21586586}.
FT REGION 7 125 13 x 9 AA approximate tandem-repeats of
FT P-R-V-I-V-G-(S/T)-P-R.
FT MOD_RES 13 13 Phosphoserine.
FT {ECO:0000269|PubMed:21586586}.
FT MOD_RES 69 69 Phosphothreonine.
FT {ECO:0000269|PubMed:21586586}.
FT MOD_RES 78 78 Phosphoserine.
FT {ECO:0000269|PubMed:21586586}.
FT MOD_RES 87 87 Phosphoserine.
FT {ECO:0000269|PubMed:21586586}.
FT MOD_RES 96 96 Phosphoserine.
FT {ECO:0000269|PubMed:21586586}.
FT MOD_RES 123 123 Phosphoserine.
FT {ECO:0000269|PubMed:21586586}.
SQ SEQUENCE 198 AA; 21118 MW; E03CF9EB3272B766 CRC64;
MVGQPQPRDD VGSPRPRVIV GTIRPRVIVG TIRPRVIVGS ARARPPPDGT PRPQLAAEES
PRPRVIFGTP RARVILGSPR PRVIVSSPWP AVVVASPRPR TPVGSPWPRV VVGTPRPRVI
VGSPRARVAD ADPASAPSQG ALQGRRQDEH SGTRAEGSRP GGAAPVPEEG GRFARAQRLP
PPRHLRLPGA PDRHRGQI
//
ID EVI2B_HUMAN Reviewed; 448 AA.
AC P34910; B7Z4A7;
DT 01-FEB-1994, integrated into UniProtKB/Swiss-Prot.
DT 15-DEC-2009, sequence version 2.
DT 31-JAN-2018, entry version 136.
DE RecName: Full=Protein EVI2B {ECO:0000305};
DE AltName: Full=Ecotropic viral integration site 2B protein homolog;
DE Short=EVI-2B {ECO:0000303|PubMed:1903357};
DE AltName: CD_antigen=CD361;
DE Flags: Precursor;
GN Name=EVI2B {ECO:0000303|PubMed:1903357, ECO:0000312|HGNC:HGNC:3500};
GN Synonyms=EVDB {ECO:0000312|HGNC:HGNC:3500};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
RC TISSUE=Bone marrow;
RX PubMed=1903357; DOI=10.1016/0888-7543(91)90410-G;
RA Cawthon R.M., Andersen L.B., Buchberg A.M., Xu G., O'Connell P.,
RA Viskochil D., Weiss R.B., Wallace M.R., Marchuk D.A., Culver M.,
RA Stevens J., Jenkins N.A., Copeland N.G., Collins F.S., White R.;
RT "cDNA sequence and genomic structure of EVI2B, a gene lying within an
RT intron of the neurofibromatosis type 1 gene.";
RL Genomics 9:446-460(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Umbilical cord blood;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-268; SER-271 AND
RP SER-294, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP TISSUE SPECIFICITY, INDUCTION, AND FUNCTION.
RX PubMed=28186500; DOI=10.1038/cdd.2017.6;
RA Zjablovskaja P., Kardosova M., Danek P., Angelisova P., Benoukraf T.,
RA Wurm A.A., Kalina T., Sian S., Balastik M., Delwel R., Brdicka T.,
RA Tenen D.G., Behre G., Fiore F., Malissen B., Horejsi V.,
RA Alberich-Jorda M.;
RT "EVI2B is a C/EBPalpha target gene required for granulocytic
RT differentiation and functionality of hematopoietic progenitors.";
RL Cell Death Differ. 24:705-716(2017).
CC -!- FUNCTION: Required for granulocyte differentiation and
CC functionality of hematopoietic progenitor cells through the
CC control of cell cycle progression and survival of hematopoietic
CC progenitor cells. {ECO:0000269|PubMed:28186500}.
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane
CC protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P34910-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P34910-2; Sequence=VSP_056461;
CC Note=No experimental confirmation available.;
CC -!- TISSUE SPECIFICITY: Bone marrow, peripheral blood mononuclear
CC cells, fibroblasts and Epstein-Barr virus-transformed
CC lymphoblastoid cell lines. Strongly expressed in granulocytic
CC cells, and weakly on lymphocytes cells.
CC {ECO:0000269|PubMed:28186500}.
CC -!- INDUCTION: Up-regulated by full-length CEBPA.
CC {ECO:0000269|PubMed:28186500}.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; M60830; AAA35816.1; -; Genomic_DNA.
DR EMBL; AK297087; BAH12493.1; -; mRNA.
DR EMBL; AC134669; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS11266.1; -. [P34910-1]
DR PIR; A38445; A38445.
DR RefSeq; NP_006486.3; NM_006495.3. [P34910-1]
DR RefSeq; XP_005258003.1; XM_005257946.3. [P34910-2]
DR UniGene; Hs.5509; -.
DR ProteinModelPortal; P34910; -.
DR STRING; 9606.ENSP00000333779; -.
DR iPTMnet; P34910; -.
DR PhosphoSitePlus; P34910; -.
DR SwissPalm; P34910; -.
DR BioMuta; EVI2B; -.
DR DMDM; 281185464; -.
DR MaxQB; P34910; -.
DR PaxDb; P34910; -.
DR PeptideAtlas; P34910; -.
DR PRIDE; P34910; -.
DR DNASU; 2124; -.
DR Ensembl; ENST00000330927; ENSP00000333779; ENSG00000185862. [P34910-1]
DR Ensembl; ENST00000577894; ENSP00000462682; ENSG00000185862. [P34910-1]
DR GeneID; 2124; -.
DR KEGG; hsa:2124; -.
DR UCSC; uc002hgk.3; human. [P34910-1]
DR CTD; 2124; -.
DR DisGeNET; 2124; -.
DR EuPathDB; HostDB:ENSG00000185862.6; -.
DR GeneCards; EVI2B; -.
DR H-InvDB; HIX0013696; -.
DR HGNC; HGNC:3500; EVI2B.
DR HPA; HPA007436; -.
DR MIM; 158381; gene.
DR neXtProt; NX_P34910; -.
DR OpenTargets; ENSG00000185862; -.
DR PharmGKB; PA27914; -.
DR eggNOG; ENOG410IVU1; Eukaryota.
DR eggNOG; ENOG41118NF; LUCA.
DR GeneTree; ENSGT00390000009142; -.
DR HOGENOM; HOG000285986; -.
DR HOVERGEN; HBG051514; -.
DR InParanoid; P34910; -.
DR KO; K16854; -.
DR OMA; MDPKYFI; -.
DR OrthoDB; EOG091G0GGD; -.
DR PhylomeDB; P34910; -.
DR TreeFam; TF336167; -.
DR GeneWiki; EVI2B; -.
DR GenomeRNAi; 2124; -.
DR PRO; PR:P34910; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000185862; -.
DR CleanEx; HS_EVI2B; -.
DR Genevisible; P34910; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0061515; P:myeloid cell development; ISS:UniProtKB.
DR GO; GO:0043066; P:negative regulation of apoptotic process; ISS:UniProtKB.
DR GO; GO:0071157; P:negative regulation of cell cycle arrest; ISS:UniProtKB.
DR GO; GO:0030854; P:positive regulation of granulocyte differentiation; IMP:UniProtKB.
DR GO; GO:0045660; P:positive regulation of neutrophil differentiation; ISS:UniProtKB.
DR GO; GO:2000035; P:regulation of stem cell division; ISS:UniProtKB.
DR InterPro; IPR033239; EVI2B.
DR PANTHER; PTHR15384; PTHR15384; 1.
DR ProDom; PD140898; PD140898; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Glycoprotein; Membrane;
KW Phosphoprotein; Polymorphism; Proto-oncogene; Reference proteome;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1 21 {ECO:0000255}.
FT CHAIN 22 448 Protein EVI2B.
FT /FTId=PRO_0000021213.
FT TOPO_DOM 22 202 Extracellular. {ECO:0000255}.
FT TRANSMEM 203 226 Helical. {ECO:0000255}.
FT TOPO_DOM 227 448 Cytoplasmic. {ECO:0000255}.
FT MOD_RES 249 249 Phosphothreonine.
FT {ECO:0000250|UniProtKB:Q8VD58}.
FT MOD_RES 268 268 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 271 271 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 278 278 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8VD58}.
FT MOD_RES 294 294 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT CARBOHYD 16 16 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 50 50 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 114 114 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT VAR_SEQ 1 1 M -> MLFRYAEKITRKYSEM (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_056461.
FT VARIANT 53 53 G -> R (in dbSNP:rs9903564).
FT /FTId=VAR_056871.
FT CONFLICT 37 37 F -> Y (in Ref. 1; AAA35816).
FT {ECO:0000305}.
SQ SEQUENCE 448 AA; 48666 MW; 5BF2DC46798577E3 CRC64;
MDPKYFILIL FCGHLNNTFF SKTETITTEK QSQPTLFTSS MSQVLANSQN TTGNPLGQPT
QFSDTFSGQS ISPAKVTAGQ PTPAVYTSSE KPEAHTSAGQ PLAYNTKQPT PIANTSSQQA
VFTSARQLPS ARTSTTQPPK SFVYTFTQQS SSVQIPSRKQ ITVHNPSTQP TSTVKNSPRS
TPGFILDTTS NKQTPQKNNY NSIAAILIGV LLTSMLVAII IIVLWKCLRK PVLNDQNWAG
RSPFADGETP DICMDNIREN EISTKRTSII SLTPWKPSKS TLLADDLEIK LFESSENIED
SNNPKTEKIK DQVNGTSEDS ADGSTVGTAV SSSDDADLPP PPPLLDLEGQ ESNQSDKPTM
TIVSPLPNDS TSLPPSLDCL NQDCGDHKSE IIQSFPPLDS LNLPLPPVDF MKNQEDSNLE
IQCQEFSIPP NSDQDLNESL PPPPAELL
//
ID MXRA7_HUMAN Reviewed; 204 AA.
AC P84157; Q0P5W3;
DT 27-SEP-2004, integrated into UniProtKB/Swiss-Prot.
DT 13-SEP-2004, sequence version 1.
DT 28-FEB-2018, entry version 105.
DE RecName: Full=Matrix-remodeling-associated protein 7;
DE AltName: Full=Transmembrane anchor protein 1;
GN Name=MXRA7; Synonyms=TMAP1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [MRNA] OF 75-204 (ISOFORM 3).
RA Walker M.G., Volkmuth W.;
RT "Matrix-remodeling associated genes identified by co-expression.";
RL Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases.
RN [4] {ECO:0000305}
RP IDENTIFICATION.
RA Southan C., Hearath A., Rohlff C.;
RT "Characterising unknown proteins by location proteomics.";
RL Submitted (AUG-2004) to UniProtKB.
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P84157-1; Sequence=Displayed;
CC Note=No experimental confirmation available.;
CC Name=2;
CC IsoId=P84157-2; Sequence=VSP_022589, VSP_022590;
CC Note=No experimental confirmation available.;
CC Name=3;
CC IsoId=P84157-3; Sequence=VSP_024252;
CC Note=No experimental confirmation available.;
CC -!- SEQUENCE CAUTION:
CC Sequence=AW888225; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AC005837; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC053983; AAH53983.1; -; mRNA.
DR EMBL; AW888225; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS32745.1; -. [P84157-1]
DR CCDS; CCDS32746.1; -. [P84157-3]
DR CCDS; CCDS45786.1; -. [P84157-2]
DR RefSeq; NP_001008528.1; NM_001008528.2. [P84157-1]
DR RefSeq; NP_001008529.1; NM_001008529.2. [P84157-3]
DR RefSeq; NP_940932.2; NM_198530.3. [P84157-2]
DR UniGene; Hs.250723; -.
DR UniGene; Hs.597019; -.
DR UniGene; Hs.655266; -.
DR ProteinModelPortal; P84157; -.
DR BioGrid; 136132; 5.
DR IntAct; P84157; 3.
DR MINT; P84157; -.
DR STRING; 9606.ENSP00000348050; -.
DR iPTMnet; P84157; -.
DR PhosphoSitePlus; P84157; -.
DR BioMuta; MXRA7; -.
DR DMDM; 52783434; -.
DR EPD; P84157; -.
DR MaxQB; P84157; -.
DR PaxDb; P84157; -.
DR PeptideAtlas; P84157; -.
DR PRIDE; P84157; -.
DR Ensembl; ENST00000355797; ENSP00000348050; ENSG00000182534. [P84157-1]
DR Ensembl; ENST00000375036; ENSP00000364176; ENSG00000182534. [P84157-3]
DR Ensembl; ENST00000449428; ENSP00000391466; ENSG00000182534. [P84157-2]
DR GeneID; 439921; -.
DR KEGG; hsa:439921; -.
DR UCSC; uc002jsk.2; human. [P84157-1]
DR CTD; 439921; -.
DR EuPathDB; HostDB:ENSG00000182534.13; -.
DR GeneCards; MXRA7; -.
DR H-InvDB; HIX0027170; -.
DR H-InvDB; HIX0029965; -.
DR HGNC; HGNC:7541; MXRA7.
DR HPA; HPA044819; -.
DR neXtProt; NX_P84157; -.
DR OpenTargets; ENSG00000182534; -.
DR PharmGKB; PA31342; -.
DR eggNOG; ENOG410J1F3; Eukaryota.
DR eggNOG; ENOG410Y304; LUCA.
DR GeneTree; ENSGT00530000064433; -.
DR HOGENOM; HOG000060262; -.
DR InParanoid; P84157; -.
DR OMA; SPEPACT; -.
DR PhylomeDB; P84157; -.
DR TreeFam; TF336065; -.
DR ChiTaRS; MXRA7; human.
DR GenomeRNAi; 439921; -.
DR PRO; PR:P84157; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000182534; -.
DR CleanEx; HS_MXRA7; -.
DR ExpressionAtlas; P84157; baseline and differential.
DR Genevisible; P84157; HS.
DR GO; GO:0031012; C:extracellular matrix; IDA:BHF-UCL.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR026622; Mxra7.
DR PANTHER; PTHR21845; PTHR21845; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 204 Matrix-remodeling-associated protein 7.
FT /FTId=PRO_0000072586.
FT TRANSMEM 7 27 Helical. {ECO:0000255}.
FT MOD_RES 191 191 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q9CZH7}.
FT VAR_SEQ 168 204 VQKEQLAAIFKLMKDNKETFGEMSDGDVQEQLRLYDM ->
FT IELTSDLTSL (in isoform 3).
FT {ECO:0000303|Ref.3}.
FT /FTId=VSP_024252.
FT VAR_SEQ 168 170 VQK -> TEE (in isoform 2).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_022589.
FT VAR_SEQ 171 204 Missing (in isoform 2).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_022590.
FT CONFLICT 80 80 L -> V (in Ref. 3). {ECO:0000305}.
SQ SEQUENCE 204 AA; 21466 MW; 3298195FCAC7AECF CRC64;
MEAPAELLAA LPALATALAL LLAWLLVRRG AAASPEPARA PPEPAPPAEA TGAPAPSRPC
APEPAASPAG PEEPGEPAGL GELGEPAGPG EPEGPGDPAA APAEAEEQAV EARQEEEQDL
DGEKGPSSEG PEEEDGEGFS FKYSPGKLRG NQYKKMMTKE ELEEEQRVQK EQLAAIFKLM
KDNKETFGEM SDGDVQEQLR LYDM
//
ID CQ067_HUMAN Reviewed; 114 AA.
AC Q0P5P2;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 26-MAY-2009, sequence version 2.
DT 22-NOV-2017, entry version 85.
DE RecName: Full=Uncharacterized protein C17orf67;
DE Flags: Precursor;
GN Name=C17orf67;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC A2RRN7:CADPS; NbExp=3; IntAct=EBI-10226540, EBI-10179719;
CC Q9HD26:GOPC; NbExp=3; IntAct=EBI-10226540, EBI-349832;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-25 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH93905.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAH93907.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AC106858; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC093905; AAH93905.1; ALT_INIT; mRNA.
DR EMBL; BC093907; AAH93907.1; ALT_INIT; mRNA.
DR RefSeq; NP_001078899.2; NM_001085430.2.
DR UniGene; Hs.658949; -.
DR ProteinModelPortal; Q0P5P2; -.
DR BioGrid; 130843; 2.
DR IntAct; Q0P5P2; 2.
DR iPTMnet; Q0P5P2; -.
DR PhosphoSitePlus; Q0P5P2; -.
DR BioMuta; C17orf67; -.
DR DMDM; 238054264; -.
DR PaxDb; Q0P5P2; -.
DR PeptideAtlas; Q0P5P2; -.
DR PRIDE; Q0P5P2; -.
DR DNASU; 339210; -.
DR Ensembl; ENST00000397861; ENSP00000380959; ENSG00000214226.
DR GeneID; 339210; -.
DR KEGG; hsa:339210; -.
DR UCSC; uc002iuq.5; human.
DR CTD; 339210; -.
DR EuPathDB; HostDB:ENSG00000214226.8; -.
DR GeneCards; C17orf67; -.
DR HGNC; HGNC:27900; C17orf67.
DR HPA; HPA043479; -.
DR neXtProt; NX_Q0P5P2; -.
DR PharmGKB; PA142672250; -.
DR eggNOG; ENOG410J0JQ; Eukaryota.
DR eggNOG; ENOG41128C8; LUCA.
DR HOGENOM; HOG000059271; -.
DR InParanoid; Q0P5P2; -.
DR OrthoDB; EOG091G11JP; -.
DR PhylomeDB; Q0P5P2; -.
DR TreeFam; TF354165; -.
DR ChiTaRS; C17orf67; human.
DR GenomeRNAi; 339210; -.
DR PRO; PR:Q0P5P2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000214226; -.
DR CleanEx; HS_C17orf67; -.
DR Genevisible; Q0P5P2; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR InterPro; IPR027870; DUF4543.
DR PANTHER; PTHR35971; PTHR35971; 1.
DR Pfam; PF15076; DUF4543; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Reference proteome; Secreted; Signal.
FT SIGNAL 1 42 {ECO:0000255}.
FT CHAIN 43 114 Uncharacterized protein C17orf67.
FT /FTId=PRO_0000287179.
SQ SEQUENCE 114 AA; 13463 MW; 4F0631B9B54548B4 CRC64;
MASFKLADSV WEDSLSKRQR NQGRMKTLPV LVLSLTLLTV FSETSPILTE KQAKQLLRSR
RQDRPSKPGF PDEPMREYMH HLLALEHRAE EQFLEHWLNP HCKPHCDRNR IHPV
//
ID SPEM2_HUMAN Reviewed; 501 AA.
AC Q0P670;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-OCT-2009, sequence version 2.
DT 25-OCT-2017, entry version 74.
DE RecName: Full=Uncharacterized protein SPEM2;
GN Name=SPEM2 {ECO:0000312|HGNC:HGNC:27315}; Synonyms=C17orf74;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AC113189; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC031286; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS42255.1; -.
DR RefSeq; NP_783861.3; NM_175734.4.
DR UniGene; Hs.380704; -.
DR ProteinModelPortal; Q0P670; -.
DR STRING; 9606.ENSP00000328061; -.
DR iPTMnet; Q0P670; -.
DR PhosphoSitePlus; Q0P670; -.
DR BioMuta; C17orf74; -.
DR DMDM; 261260060; -.
DR PaxDb; Q0P670; -.
DR PeptideAtlas; Q0P670; -.
DR PRIDE; Q0P670; -.
DR Ensembl; ENST00000333870; ENSP00000328061; ENSG00000184560.
DR Ensembl; ENST00000639609; ENSP00000492107; ENSG00000283714.
DR GeneID; 201243; -.
DR KEGG; hsa:201243; -.
DR UCSC; uc002ggw.4; human.
DR CTD; 201243; -.
DR EuPathDB; HostDB:ENSG00000184560.7; -.
DR GeneCards; C17orf74; -.
DR HGNC; HGNC:27315; SPEM2.
DR HPA; HPA023649; -.
DR neXtProt; NX_Q0P670; -.
DR OpenTargets; ENSG00000184560; -.
DR PharmGKB; PA142672222; -.
DR eggNOG; ENOG410J01B; Eukaryota.
DR eggNOG; ENOG4111AYJ; LUCA.
DR GeneTree; ENSGT00510000049558; -.
DR HOGENOM; HOG000140945; -.
DR InParanoid; Q0P670; -.
DR OMA; SNVGLWG; -.
DR OrthoDB; EOG091G0AA9; -.
DR PhylomeDB; Q0P670; -.
DR TreeFam; TF337389; -.
DR GenomeRNAi; 201243; -.
DR PRO; PR:Q0P670; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000184560; -.
DR CleanEx; HS_C17orf74; -.
DR ExpressionAtlas; Q0P670; baseline and differential.
DR Genevisible; Q0P670; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR031368; SPEM1_N.
DR Pfam; PF15670; Spem1; 1.
PE 2: Evidence at transcript level;
KW Complete proteome; Membrane; Polymorphism; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1 501 Uncharacterized protein SPEM2.
FT /FTId=PRO_0000286623.
FT TRANSMEM 26 46 Helical. {ECO:0000255}.
FT COMPBIAS 122 137 Arg-rich.
FT COMPBIAS 280 283 Poly-Pro.
FT VARIANT 108 108 S -> A (in dbSNP:rs13290).
FT /FTId=VAR_032145.
FT VARIANT 376 376 Q -> R (in dbSNP:rs3892554).
FT /FTId=VAR_032146.
FT CONFLICT 409 409 Missing (in Ref. 2; BC031286).
FT {ECO:0000305}.
SQ SEQUENCE 501 AA; 57131 MW; F14E33A15453E228 CRC64;
MENQLWHNTV RCCNQYQESP HDAEDILLLL LGLIVLVNIG INVATMMWHG LQNALDKMID
WATQKNEIQA SESPPSGPPD KAQDVHIHCI LDPVQVKMSR PTQYSSFSCH HFSNHHSSSL
LRCVRRRRRR HRRCRRRCCN HQQRPQNYRQ IPHSHSVFRN PHRSQKMSQL HRVPFFDQED
PDSYLEEEDN LPFPYPKYPR RGWGGFYQRA GLPSNVGLWG HQGGILASLP PPSLYLSPEL
RCMPKRVEAR SELRLQSYGR HGSQSRLWGN VEAEQWASSP PPPHRLPPNP SWVPVGHSPY
PSVGWMLYDS WDQRRRGTEG FERPPASVSR NARPEAQGCR EHHSPQSHQQ SLLGHAYGQS
HRSPHPSTEP LGYSSQDPRE VRRRAADWAE ALPAWRPLTT SASLTVLDEA SHQRTPAPSS
VLVPHSSQPW PKVQAADPAP PPTMFVPLSR NPGGNANYQV YDSLELKRQV QKSRARSSSL
PPASTSTLRP SLHRSQTEKL N
//
ID TMM94_HUMAN Reviewed; 1356 AA.
AC Q12767; O75536; Q86XF1;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1997, sequence version 1.
DT 28-FEB-2018, entry version 128.
DE RecName: Full=Transmembrane protein 94 {ECO:0000312|HGNC:HGNC:28983};
GN Name=TMEM94 {ECO:0000312|HGNC:HGNC:28983}; Synonyms=KIAA0195;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Bone marrow;
RX PubMed=8724849; DOI=10.1093/dnares/3.1.17;
RA Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. V.
RT The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by
RT analysis of cDNA clones from human cell line KG-1.";
RL DNA Res. 3:17-24(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1155-1356 (ISOFORM 2).
RC TISSUE=Brain;
RA Andersson B., Wentland M.A., Ricafrente J.Y., Liu W., Gibbs R.A.;
RL Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-221 AND SER-225, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of
RT the kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-225, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19369195; DOI=10.1074/mcp.M800588-MCP200;
RA Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
RA Mann M., Daub H.;
RT "Large-scale proteomics analysis of the human kinome.";
RL Mol. Cell. Proteomics 8:1751-1764(2009).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-513, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-445; SER-454 AND
RP SER-798, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-225; SER-444; SER-518
RP AND SER-941, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA Wang L., Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT liver phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q12767-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q12767-2; Sequence=VSP_011043;
CC Note=No experimental confirmation available.;
CC -!- TISSUE SPECIFICITY: Expressed ubiquitously.
CC {ECO:0000269|PubMed:8724849}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA12108.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; D83779; BAA12108.2; ALT_INIT; mRNA.
DR EMBL; BC045540; AAH45540.1; -; mRNA.
DR EMBL; AF070545; AAC28636.1; -; mRNA.
DR CCDS; CCDS32732.1; -. [Q12767-1]
DR RefSeq; NP_001308077.1; NM_001321148.1.
DR RefSeq; NP_001308078.1; NM_001321149.1.
DR RefSeq; NP_055553.3; NM_014738.5. [Q12767-1]
DR UniGene; Hs.514474; -.
DR ProteinModelPortal; Q12767; -.
DR BioGrid; 115117; 10.
DR IntAct; Q12767; 1.
DR STRING; 9606.ENSP00000313885; -.
DR iPTMnet; Q12767; -.
DR PhosphoSitePlus; Q12767; -.
DR BioMuta; KIAA0195; -.
DR DMDM; 2495718; -.
DR EPD; Q12767; -.
DR MaxQB; Q12767; -.
DR PaxDb; Q12767; -.
DR PeptideAtlas; Q12767; -.
DR PRIDE; Q12767; -.
DR Ensembl; ENST00000314256; ENSP00000313885; ENSG00000177728. [Q12767-1]
DR GeneID; 9772; -.
DR KEGG; hsa:9772; -.
DR UCSC; uc002jnz.5; human. [Q12767-1]
DR CTD; 9772; -.
DR DisGeNET; 9772; -.
DR EuPathDB; HostDB:ENSG00000177728.14; -.
DR GeneCards; TMEM94; -.
DR HGNC; HGNC:28983; TMEM94.
DR HPA; HPA050660; -.
DR neXtProt; NX_Q12767; -.
DR OpenTargets; ENSG00000177728; -.
DR PharmGKB; PA142671623; -.
DR eggNOG; KOG4383; Eukaryota.
DR eggNOG; ENOG410XQVD; LUCA.
DR GeneTree; ENSGT00390000016550; -.
DR HOVERGEN; HBG052173; -.
DR InParanoid; Q12767; -.
DR PhylomeDB; Q12767; -.
DR TreeFam; TF314852; -.
DR ChiTaRS; TMEM94; human.
DR GenomeRNAi; 9772; -.
DR PRO; PR:Q12767; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000177728; -.
DR CleanEx; HS_KIAA0195; -.
DR ExpressionAtlas; Q12767; baseline and differential.
DR Genevisible; Q12767; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR006068; ATPase_P-typ_cation-transptr_C.
DR InterPro; IPR023298; ATPase_P-typ_TM_dom_sf.
DR Pfam; PF00689; Cation_ATPase_C; 1.
DR SUPFAM; SSF81665; SSF81665; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Glycoprotein; Membrane;
KW Phosphoprotein; Polymorphism; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1 1356 Transmembrane protein 94.
FT /FTId=PRO_0000050731.
FT TRANSMEM 65 85 Helical. {ECO:0000255}.
FT TRANSMEM 93 113 Helical. {ECO:0000255}.
FT TRANSMEM 274 294 Helical. {ECO:0000255}.
FT TRANSMEM 321 341 Helical. {ECO:0000255}.
FT TRANSMEM 1093 1113 Helical. {ECO:0000255}.
FT TRANSMEM 1121 1141 Helical. {ECO:0000255}.
FT TRANSMEM 1168 1188 Helical. {ECO:0000255}.
FT TRANSMEM 1229 1249 Helical. {ECO:0000255}.
FT TRANSMEM 1262 1282 Helical. {ECO:0000255}.
FT TRANSMEM 1307 1327 Helical. {ECO:0000255}.
FT MOD_RES 221 221 Phosphoserine.
FT {ECO:0000244|PubMed:18691976}.
FT MOD_RES 225 225 Phosphoserine.
FT {ECO:0000244|PubMed:18691976,
FT ECO:0000244|PubMed:19369195,
FT ECO:0000244|PubMed:24275569}.
FT MOD_RES 444 444 Phosphoserine.
FT {ECO:0000244|PubMed:24275569}.
FT MOD_RES 445 445 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 454 454 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 513 513 Phosphoserine.
FT {ECO:0000244|PubMed:21406692}.
FT MOD_RES 518 518 Phosphoserine.
FT {ECO:0000244|PubMed:24275569}.
FT MOD_RES 798 798 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 941 941 Phosphoserine.
FT {ECO:0000244|PubMed:24275569}.
FT CARBOHYD 475 475 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 516 516 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 1202 1202 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 1205 1205 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT VAR_SEQ 1244 1244 T -> TGERAPWEGVDDGGKGAPLWKSDPHIAPPSP (in
FT isoform 2). {ECO:0000303|Ref.3}.
FT /FTId=VSP_011043.
FT VARIANT 1040 1040 I -> T (in dbSNP:rs8073809).
FT /FTId=VAR_019508.
FT CONFLICT 203 203 I -> M (in Ref. 2; AAH45540).
FT {ECO:0000305}.
FT CONFLICT 991 991 Q -> L (in Ref. 2; AAH45540).
FT {ECO:0000305}.
SQ SEQUENCE 1356 AA; 151151 MW; 9DC0188CEE81F494 CRC64;
MDLKEKHLGE PPSALGLSTR KALSVLKEQL EAVLEGHLRE RKKCLTWKEV WRSSFLHHSN
RCSCFHWPGA SLMLLAVLLL LGCCGGQPAG SRGVGLVNAS ALFLLLLLNL VLIGRQDRLK
RREVERRLRG IIDQIQDALR DGREIQWPSA MYPDLHMPFA PSWSLHWAYR DGHLVNLPVS
LLVEGDIIAL RPGQESFASL RGIKDDEHIV LEPGDLFPPF SPPPSPRGEV ERGPQSPQQH
RLFRVLETPV IDNIRWCLDM ALSRPVTALD NERFTVQSVM LHYAVPVVLA GFLITNALRF
IFSAPGVTSW QYTLLQLQVN GVLPILPLLF PVLWVLATAC GEARVLAQMS KASPSSLLAK
FSEDTLSSYT EAVSSQEMLR CIWGHFLRVL GGTSPTLSHS SSLLHSLGSV TVLCCVDKQG
ILSWPNPSPE TVLFFSGKVE PPHSSHEDLT DGLSTRSFCH PEPHERDALL AGSLNNTLHL
SNEQERGDWP GEAPKPPEPY SHHKAHGRSK HPSGSNVSFS RDTEGGEEEP SKTQPGMESD
PYEAEDFVCD YHLEMLSLSQ DQQNPSCIQF DDSNWQLHLT SLKPLGLNVL LNLCDASVTE
RLCRFSDHLC NIALQESHSA VLPVHVPWGL CELARLIGFT PGAKELFKQE NHLALYRLPS
AETMKETSLG RLSCVTKRRP PLSHMISLFI KDTTTSTEQM LSHGTADVVL EACTDFWDGA
DIYPLSGSDR KKVLDFYQRA CLSGYCSAFA YKPMNCALSS QLNGKCIELV QVPGQSSIFT
MCELPSTIPI KQNARRSSWS SDEGIGEVLE KEDCMQALSG QIFMGMVSSQ YQARLDIVRL
IDGLVNACIR FVYFSLEDEL KSKVFAEKMG LETGWNCHIS LTPNGDMPGS EIPPSSPSHA
GSLHDDLNQV SRDDAEGLLL MEEEGHSDLI SFQPTDSDIP SFLEDSNRAK LPRGIHQVRP
HLQNIDNVPL LVPLFTDCTP ETMCEMIKIM QEYGEVTCCL GSSANLRNSC LFLQSDISIA
LDPLYPSRCS WETFGYATSI SMAQASDGLS PLQLSGQLNS LPCSLTFRQE ETISIIRLIE
QARHATYGIR KCFLFLLQCQ LTLVVIQFLS CLVQLPPLLS TTDILWLSCF CYPLLSISLL
GKPPHSSIMS MATGKNLQSI PKKTQHYFLL CFLLKFSLTI SSCLICFGFT LQSFCDSSRD
RNLTNCSSVM LPSNDDRAPA WFEDFANGLL SAQKLTAALI VLHTVFISIT HVHRTKPLWR
KSPLTNLWWA VTVPVVLLGQ VVQTAVDLQL WTHRDSHVHF GLEDVPLLTW LLGCLSLVLV
VVTNEIVKLH EIRVRVRYQK RQKLQFETKL GMNSPF
//
ID CQ058_HUMAN Reviewed; 97 AA.
AC Q2M2W7; A8MQV2;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 27-SEP-2017, entry version 84.
DE RecName: Full=UPF0450 protein C17orf58;
GN Name=C17orf58;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP VAL-92.
RC TISSUE=Brain, and Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q2M2W7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2M2W7-2; Sequence=VSP_036597;
CC Note=Ref.1 (AL556320) and Ref.2 (AK026583) sequences are in
CC conflict in position: 72:E->G. {ECO:0000305};
CC -!- SIMILARITY: Belongs to the UPF0450 family. {ECO:0000305}.
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DR EMBL; AL556320; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK026583; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC134407; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036760; AAH36760.1; -; mRNA.
DR EMBL; BC105124; AAI05125.1; -; mRNA.
DR EMBL; BC112073; AAI12074.1; -; mRNA.
DR CCDS; CCDS42375.1; -. [Q2M2W7-2]
DR CCDS; CCDS45765.1; -. [Q2M2W7-1]
DR RefSeq; NP_858041.2; NM_181655.3. [Q2M2W7-1]
DR RefSeq; NP_858042.2; NM_181656.4. [Q2M2W7-2]
DR UniGene; Hs.90790; -.
DR ProteinModelPortal; Q2M2W7; -.
DR STRING; 9606.ENSP00000402020; -.
DR iPTMnet; Q2M2W7; -.
DR PhosphoSitePlus; Q2M2W7; -.
DR BioMuta; C17orf58; -.
DR DMDM; 215273993; -.
DR PaxDb; Q2M2W7; -.
DR PeptideAtlas; Q2M2W7; -.
DR PRIDE; Q2M2W7; -.
DR Ensembl; ENST00000334461; ENSP00000334741; ENSG00000186665. [Q2M2W7-2]
DR Ensembl; ENST00000449250; ENSP00000402020; ENSG00000186665. [Q2M2W7-1]
DR GeneID; 284018; -.
DR KEGG; hsa:284018; -.
DR UCSC; uc002jgi.6; human. [Q2M2W7-1]
DR CTD; 284018; -.
DR EuPathDB; HostDB:ENSG00000186665.8; -.
DR GeneCards; C17orf58; -.
DR HGNC; HGNC:27568; C17orf58.
DR HPA; HPA023036; -.
DR neXtProt; NX_Q2M2W7; -.
DR OpenTargets; ENSG00000186665; -.
DR PharmGKB; PA142672241; -.
DR eggNOG; ENOG410J1NM; Eukaryota.
DR eggNOG; ENOG410YJTH; LUCA.
DR GeneTree; ENSGT00390000002361; -.
DR HOGENOM; HOG000111934; -.
DR HOVERGEN; HBG080544; -.
DR InParanoid; Q2M2W7; -.
DR OrthoDB; EOG091G12T4; -.
DR PhylomeDB; Q2M2W7; -.
DR TreeFam; TF341123; -.
DR GenomeRNAi; 284018; -.
DR PRO; PR:Q2M2W7; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000186665; -.
DR CleanEx; HS_C17orf58; -.
DR ExpressionAtlas; Q2M2W7; baseline and differential.
DR Genevisible; Q2M2W7; HS.
DR InterPro; IPR008993; TIMP-like_OB-fold.
DR SUPFAM; SSF50242; SSF50242; 1.
PE 3: Inferred from homology;
KW Alternative splicing; Complete proteome; Polymorphism;
KW Reference proteome.
FT CHAIN 1 97 UPF0450 protein C17orf58.
FT /FTId=PRO_0000279445.
FT VAR_SEQ 36 97 SRYIVMGHIYHKRRQLPTALLQVLRGRLRPGDGLLRSSSSY
FT VKRFNRKREGQIQGAIHTQCI -> IETDLNDAAYVLYTTV
FT CNVGATARAVGRPAFFWERWETMT (in isoform 2).
FT {ECO:0000303|PubMed:14702039,
FT ECO:0000303|Ref.1}.
FT /FTId=VSP_036597.
FT VARIANT 92 92 I -> V (in dbSNP:rs9891146).
FT {ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_030902.
SQ SEQUENCE 97 AA; 11219 MW; D35169927F0E890E CRC64;
MNRLYLTPDG FFFRVHMLAL DSSSCNKPCP EFKPGSRYIV MGHIYHKRRQ LPTALLQVLR
GRLRPGDGLL RSSSSYVKRF NRKREGQIQG AIHTQCI
//
ID CCD57_HUMAN Reviewed; 916 AA.
AC Q2TAC2; A6NP51; A8MQC7; Q8IWG2; Q8TER3;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 28-MAR-2018, entry version 99.
DE RecName: Full=Coiled-coil domain-containing protein 57;
GN Name=CCDC57;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP MET-480.
RC TISSUE=Brain, and Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 458-916 (ISOFORM 2).
RC TISSUE=Spleen;
RX PubMed=12693554; DOI=10.1093/dnares/10.1.49;
RA Jikuya H., Takano J., Kikuno R., Hirosawa M., Nagase T., Nomura N.,
RA Ohara O.;
RT "Characterization of long cDNA clones from human adult spleen. II. The
RT complete sequences of 81 cDNA clones.";
RL DNA Res. 10:49-57(2003).
CC -!- INTERACTION:
CC Q08117:AES; NbExp=3; IntAct=EBI-2808286, EBI-717810;
CC P29972:AQP1; NbExp=3; IntAct=EBI-2808286, EBI-745213;
CC P40617:ARL4A; NbExp=3; IntAct=EBI-2808286, EBI-2875746;
CC A0A0S2Z4M1:AXIN1; NbExp=3; IntAct=EBI-10961624, EBI-16429430;
CC O15169:AXIN1; NbExp=3; IntAct=EBI-10961624, EBI-710484;
CC Q9HC52:CBX8; NbExp=3; IntAct=EBI-2808286, EBI-712912;
CC Q96HB5-4:CCDC120; NbExp=3; IntAct=EBI-2808286, EBI-10185348;
CC Q8IYA8:CCDC36; NbExp=4; IntAct=EBI-10961624, EBI-8638439;
CC Q86Y33:CDC20B; NbExp=3; IntAct=EBI-2808286, EBI-10260504;
CC Q8IYX8-2:CEP57L1; NbExp=3; IntAct=EBI-2808286, EBI-10181988;
CC Q2TBE0:CWF19L2; NbExp=3; IntAct=EBI-2808286, EBI-5453285;
CC P53255:DRN1 (xeno); NbExp=3; IntAct=EBI-10961624, EBI-23234;
CC Q04637-9:EIF4G1; NbExp=4; IntAct=EBI-10961624, EBI-12012124;
CC Q3B820:FAM161A; NbExp=4; IntAct=EBI-10961624, EBI-719941;
CC Q96MY7:FAM161B; NbExp=4; IntAct=EBI-10961624, EBI-7225287;
CC Q9Y247:FAM50B; NbExp=3; IntAct=EBI-2808286, EBI-742802;
CC Q86YD7:FAM90A1; NbExp=3; IntAct=EBI-2808286, EBI-6658203;
CC P14136:GFAP; NbExp=4; IntAct=EBI-10961624, EBI-744302;
CC Q92917:GPKOW; NbExp=3; IntAct=EBI-2808286, EBI-746309;
CC Q96CS2:HAUS1; NbExp=3; IntAct=EBI-2808286, EBI-2514791;
CC P69905:HBA2; NbExp=3; IntAct=EBI-2808286, EBI-714680;
CC Q01546:KRT76; NbExp=4; IntAct=EBI-10961624, EBI-2952745;
CC Q96BZ8:LENG1; NbExp=3; IntAct=EBI-2808286, EBI-726510;
CC Q96FQ7:LINC00526; NbExp=3; IntAct=EBI-2808286, EBI-10286106;
CC Q9Y6D9:MAD1L1; NbExp=4; IntAct=EBI-10961624, EBI-742610;
CC P55081:MFAP1; NbExp=3; IntAct=EBI-2808286, EBI-1048159;
CC Q6XQN6-2:NAPRT; NbExp=3; IntAct=EBI-2808286, EBI-10254820;
CC P18615:NELFE; NbExp=3; IntAct=EBI-2808286, EBI-348444;
CC Q14980:NUMA1; NbExp=3; IntAct=EBI-2808286, EBI-521611;
CC Q8NEY8:PPHLN1; NbExp=3; IntAct=EBI-2808286, EBI-474076;
CC Q6NYC8:PPP1R18; NbExp=3; IntAct=EBI-2808286, EBI-2557469;
CC Q96QH2:PRAM1; NbExp=3; IntAct=EBI-2808286, EBI-2860740;
CC Q8WWY3:PRPF31; NbExp=5; IntAct=EBI-10961624, EBI-1567797;
CC P79522:PRR3; NbExp=3; IntAct=EBI-2808286, EBI-2803328;
CC P35236:PTPN7; NbExp=3; IntAct=EBI-2808286, EBI-2265723;
CC Q8TBN0:RAB3IL1; NbExp=3; IntAct=EBI-2808286, EBI-743796;
CC A0A0S2Z4G9:RNF6; NbExp=3; IntAct=EBI-10961624, EBI-16428950;
CC Q96HH0:ROBO3; NbExp=4; IntAct=EBI-10961624, EBI-10288358;
CC Q5T7P8-2:SYT6; NbExp=4; IntAct=EBI-10961624, EBI-10246152;
CC Q9NU19:TBC1D22B; NbExp=3; IntAct=EBI-2808286, EBI-8787464;
CC Q9NV29:TMEM100; NbExp=3; IntAct=EBI-2808286, EBI-8644968;
CC Q14134:TRIM29; NbExp=4; IntAct=EBI-10961624, EBI-702370;
CC Q3SY00:TSGA10IP; NbExp=3; IntAct=EBI-2808286, EBI-10241197;
CC Q9Y4E8:USP15; NbExp=3; IntAct=EBI-2808286, EBI-1043104;
CC O75604:USP2; NbExp=3; IntAct=EBI-2808286, EBI-743272;
CC Q08E77:UTP14C; NbExp=3; IntAct=EBI-2808286, EBI-10225961;
CC G3V1X1:ZFC3H1; NbExp=3; IntAct=EBI-2808286, EBI-6448783;
CC Q8N5A5:ZGPAT; NbExp=3; IntAct=EBI-2808286, EBI-3439227;
CC Q96NC0:ZMAT2; NbExp=3; IntAct=EBI-2808286, EBI-2682299;
CC Q8TAU3:ZNF417; NbExp=3; IntAct=EBI-2808286, EBI-740727;
CC A0A0S2Z5X4:ZNF688; NbExp=3; IntAct=EBI-10961624, EBI-16429014;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q2TAC2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2TAC2-2; Sequence=VSP_025802, VSP_025803;
CC -!- SEQUENCE CAUTION:
CC Sequence=EAW89746.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AC129510; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC132872; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC135056; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471099; EAW89746.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC040264; AAH40264.1; -; mRNA.
DR EMBL; BC110997; AAI10998.1; -; mRNA.
DR EMBL; AK074059; BAB84885.1; -; mRNA.
DR CCDS; CCDS11803.1; -. [Q2TAC2-2]
DR RefSeq; NP_001303250.1; NM_001316321.1. [Q2TAC2-2]
DR UniGene; Hs.631724; -.
DR ProteinModelPortal; Q2TAC2; -.
DR SMR; Q2TAC2; -.
DR BioGrid; 129725; 50.
DR IntAct; Q2TAC2; 126.
DR STRING; 9606.ENSP00000374292; -.
DR iPTMnet; Q2TAC2; -.
DR PhosphoSitePlus; Q2TAC2; -.
DR BioMuta; CCDC57; -.
DR DMDM; 317373337; -.
DR MaxQB; Q2TAC2; -.
DR PaxDb; Q2TAC2; -.
DR PeptideAtlas; Q2TAC2; -.
DR PRIDE; Q2TAC2; -.
DR TopDownProteomics; Q2TAC2-1; -. [Q2TAC2-1]
DR DNASU; 284001; -.
DR Ensembl; ENST00000389641; ENSP00000374292; ENSG00000176155. [Q2TAC2-1]
DR Ensembl; ENST00000392343; ENSP00000376154; ENSG00000176155. [Q2TAC2-2]
DR Ensembl; ENST00000392347; ENSP00000376158; ENSG00000176155. [Q2TAC2-1]
DR GeneID; 284001; -.
DR KEGG; hsa:284001; -.
DR UCSC; uc002kdz.2; human. [Q2TAC2-1]
DR CTD; 284001; -.
DR DisGeNET; 284001; -.
DR EuPathDB; HostDB:ENSG00000176155.18; -.
DR GeneCards; CCDC57; -.
DR H-InvDB; HIX0019621; -.
DR HGNC; HGNC:27564; CCDC57.
DR HPA; HPA023315; -.
DR HPA; HPA023326; -.
DR HPA; HPA023342; -.
DR HPA; HPA023344; -.
DR neXtProt; NX_Q2TAC2; -.
DR OpenTargets; ENSG00000176155; -.
DR PharmGKB; PA142672173; -.
DR eggNOG; ENOG410IJ7V; Eukaryota.
DR eggNOG; ENOG410XPZ8; LUCA.
DR GeneTree; ENSGT00390000010571; -.
DR HOGENOM; HOG000111424; -.
DR HOVERGEN; HBG096613; -.
DR InParanoid; Q2TAC2; -.
DR OMA; QYENLKW; -.
DR OrthoDB; EOG091G05KS; -.
DR PhylomeDB; Q2TAC2; -.
DR TreeFam; TF333001; -.
DR ChiTaRS; CCDC57; human.
DR GeneWiki; CCDC57; -.
DR GenomeRNAi; 284001; -.
DR PRO; PR:Q2TAC2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000176155; -.
DR CleanEx; HS_CCDC57; -.
DR ExpressionAtlas; Q2TAC2; baseline and differential.
DR Genevisible; Q2TAC2; HS.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Complete proteome; Polymorphism;
KW Reference proteome.
FT CHAIN 1 916 Coiled-coil domain-containing protein 57.
FT /FTId=PRO_0000288871.
FT COILED 25 487 {ECO:0000255}.
FT COILED 518 605 {ECO:0000255}.
FT VAR_SEQ 748 751 QDAK -> VGAR (in isoform 2).
FT {ECO:0000303|PubMed:12693554,
FT ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_025802.
FT VAR_SEQ 752 916 Missing (in isoform 2).
FT {ECO:0000303|PubMed:12693554,
FT ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_025803.
FT VARIANT 237 237 E -> Q (in dbSNP:rs34543170).
FT /FTId=VAR_032516.
FT VARIANT 321 321 Q -> R (in dbSNP:rs7406116).
FT /FTId=VAR_032517.
FT VARIANT 480 480 V -> M (in dbSNP:rs7209474).
FT {ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_032518.
FT VARIANT 775 775 R -> G (in dbSNP:rs4625783).
FT /FTId=VAR_032519.
FT VARIANT 777 777 D -> N (in dbSNP:rs7406163).
FT /FTId=VAR_032520.
FT VARIANT 778 778 A -> T (in dbSNP:rs7406162).
FT /FTId=VAR_032521.
FT VARIANT 811 811 Q -> K (in dbSNP:rs7213172).
FT /FTId=VAR_032522.
FT VARIANT 834 834 M -> T (in dbSNP:rs11077969).
FT /FTId=VAR_032523.
FT CONFLICT 458 458 Q -> K (in Ref. 4; BAB84885).
FT {ECO:0000305}.
SQ SEQUENCE 916 AA; 103167 MW; 2DFCD179A1994170 CRC64;
MLPLGSEPAL NELLLRKEEE WRALQAHRTQ LQEAALQDTR SQLEEAQGKL RCLQEDFVYN
LQVLEERDLE LERYDAAFAQ AREWEEARRA EVSELKIEAA KLRQALAREA RKVEELQQQQ
QLAFQEHRLE LERVHSDKNG EIDHHREQYE NLKWTLERKL EELDGELALQ RQELLLEFES
KMRKREHEFR LQADNMSNTA LSRELKVKLL HKELEALKEA GAKAAESLQR AEATNAELER
KLQSRAGELQ DLEAMSRARV KDLEDKLHSV QLTRKKEEET FKRKHEELDR LAREKDAVLV
AVKGAHVEQL QELQTRVLEL QAHCETLEAQ LRRAEWRQAD TAKEKDAAID QLREDASTVK
SAWDAQIAQL SKEMVSRDLQ IQTLQEEEVK LKAQVARSQQ DIERYKQQLS LAVERERSLE
RDQVQLGLDW QRRCDDIERD QIQKSEALIQ GLSMAKSQVA AKLQETEQAL QEQEVVLKAV
TLERDQAVQA LRMHGLPRPG AQMLLRQHEE EISKDFPSSE IQRLREQNTS LRNAIAQMRK
EMEALSHQIP PPIQTAAEST DANQPDPEAG GDAATPDYVL ALEAEIRTLK HKFKTLEKHL
EDVLDPLKMS SPHAESQPSV RTSTETTGGS AQAGQAGGSV QAGQAGGSVQ AGPVSSGLAL
RKLGDRVQLL NLLVTRLRQK VLREPLEPAA LQRELPREVD QVHLEVLELR KQVAELGKHL
RIAQHGGAEP SGRKQPPASD AVALGREQDA KSAEDEAPSR HLGKHQPRSA QVGSRLDALQ
GPKTQHSIHT VTCKSPRQKE DRSPKPPQAP QHPEEHGRQS HSSSSFASGT LQDMWRLLDL
GSSPSGVTSQ GDSTPELPAP PAADRRPVKM QAGIATPGMK TAAQAKAKTT GASRSHPAKA
KGCQRPPKIR NYNIMD
//
ID SMTL2_HUMAN Reviewed; 461 AA.
AC Q2TAL5; Q6ZVK6;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-JAN-2006, sequence version 1.
DT 28-FEB-2018, entry version 92.
DE RecName: Full=Smoothelin-like protein 2;
GN Name=SMTNL2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
RP THR-162.
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP THR-162.
RC TISSUE=Brain, and Colon;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q2TAL5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2TAL5-2; Sequence=VSP_030931;
CC -!- SIMILARITY: Belongs to the smoothelin family. {ECO:0000305}.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AK124452; BAC85855.1; -; mRNA.
DR EMBL; BC110859; AAI10860.1; -; mRNA.
DR EMBL; BC105050; AAI05051.1; -; mRNA.
DR EMBL; BC112177; AAI12178.1; -; mRNA.
DR CCDS; CCDS11048.1; -. [Q2TAL5-2]
DR CCDS; CCDS45583.1; -. [Q2TAL5-1]
DR RefSeq; NP_001108446.1; NM_001114974.1. [Q2TAL5-1]
DR RefSeq; NP_940903.2; NM_198501.2. [Q2TAL5-2]
DR RefSeq; XP_006721578.1; XM_006721515.2. [Q2TAL5-2]
DR UniGene; Hs.441709; -.
DR ProteinModelPortal; Q2TAL5; -.
DR SMR; Q2TAL5; -.
DR BioGrid; 131181; 18.
DR ELM; Q2TAL5; -.
DR IntAct; Q2TAL5; 2.
DR STRING; 9606.ENSP00000373964; -.
DR iPTMnet; Q2TAL5; -.
DR PhosphoSitePlus; Q2TAL5; -.
DR BioMuta; SMTNL2; -.
DR DMDM; 121941770; -.
DR MaxQB; Q2TAL5; -.
DR PaxDb; Q2TAL5; -.
DR PeptideAtlas; Q2TAL5; -.
DR PRIDE; Q2TAL5; -.
DR Ensembl; ENST00000338859; ENSP00000345143; ENSG00000188176. [Q2TAL5-2]
DR Ensembl; ENST00000389313; ENSP00000373964; ENSG00000188176. [Q2TAL5-1]
DR GeneID; 342527; -.
DR KEGG; hsa:342527; -.
DR UCSC; uc002fye.3; human. [Q2TAL5-1]
DR CTD; 342527; -.
DR EuPathDB; HostDB:ENSG00000188176.11; -.
DR GeneCards; SMTNL2; -.
DR HGNC; HGNC:24764; SMTNL2.
DR neXtProt; NX_Q2TAL5; -.
DR OpenTargets; ENSG00000188176; -.
DR PharmGKB; PA145007828; -.
DR eggNOG; KOG4678; Eukaryota.
DR eggNOG; COG5069; LUCA.
DR GeneTree; ENSGT00760000118856; -.
DR HOGENOM; HOG000074064; -.
DR HOVERGEN; HBG055073; -.
DR InParanoid; Q2TAL5; -.
DR OMA; IMENGHQ; -.
DR OrthoDB; EOG091G0YLR; -.
DR PhylomeDB; Q2TAL5; -.
DR TreeFam; TF316716; -.
DR ChiTaRS; SMTNL2; human.
DR GenomeRNAi; 342527; -.
DR PRO; PR:Q2TAL5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000188176; -.
DR CleanEx; HS_SMTNL2; -.
DR ExpressionAtlas; Q2TAL5; baseline and differential.
DR Genevisible; Q2TAL5; HS.
DR CDD; cd00014; CH; 1.
DR Gene3D; 1.10.418.10; -; 1.
DR InterPro; IPR001715; CH-domain.
DR InterPro; IPR036872; CH_dom_sf.
DR Pfam; PF00307; CH; 1.
DR SMART; SM00033; CH; 1.
DR SUPFAM; SSF47576; SSF47576; 1.
DR PROSITE; PS50021; CH; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Complete proteome; Phosphoprotein;
KW Polymorphism; Reference proteome.
FT CHAIN 1 461 Smoothelin-like protein 2.
FT /FTId=PRO_0000317278.
FT DOMAIN 351 458 Calponin-homology (CH).
FT {ECO:0000255|PROSITE-ProRule:PRU00044}.
FT COILED 55 88 {ECO:0000255}.
FT MOD_RES 96 96 Phosphothreonine.
FT {ECO:0000250|UniProtKB:Q8CI12}.
FT MOD_RES 101 101 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8CI12}.
FT MOD_RES 129 129 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8CI12}.
FT MOD_RES 134 134 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8CI12}.
FT MOD_RES 256 256 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8CI12}.
FT MOD_RES 269 269 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8CI12}.
FT MOD_RES 274 274 Phosphothreonine.
FT {ECO:0000250|UniProtKB:Q8CI12}.
FT MOD_RES 278 278 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8CI12}.
FT MOD_RES 344 344 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8CI12}.
FT VAR_SEQ 1 144 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_030931.
FT VARIANT 162 162 A -> T (in dbSNP:rs12449695).
FT {ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_038498.
FT VARIANT 251 251 W -> R (in dbSNP:rs9916524).
FT /FTId=VAR_060164.
SQ SEQUENCE 461 AA; 50196 MW; A12786420E5796CE CRC64;
MEPAPDAQEA RTVREALGRY EAALEGAVRA LHEDMRGLQR GVERRVAEAM RLAGPLARTV
ADLQRDNQRL QAQLERLTRQ VEALGLASGM SPVPGTPGTP SPPPAPGVPD RAPRLGSARF
ASHATFSLSG RGQSLDHDEA SESEMRKTSN SCIMENGHQP GAGPGDGPPE IAQNFSAPDP
PRPRPVSLSL RLPHQPVTAI TRVSDRFSGE TSAAALSPMS AATLGGLNPS PSEVITPWTP
SPSEKNSSFT WSVPSSGYGA VTASKHSNSP PLVTPPQSPV SPQPPAITQV HRQGERRREL
VRSQTLPRTS EAQARKALFE KWEQETAAGK GKGEARARLK RSQSFGVASA SSIKQILLEW
CRSKTLGYQH VDLQNFSSSW SDGMAFCALV HSFFPDAFDY NSLSPTQRQK NFELAFTMAE
NLANCERLIE VEDMMVMGRK PDPMCVFTYV QSLYNHLRRF E
//
ID LSM12_HUMAN Reviewed; 195 AA.
AC Q3MHD2; Q86YB1; Q96NL5;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-OCT-2007, sequence version 2.
DT 28-MAR-2018, entry version 97.
DE RecName: Full=Protein LSM12 homolog;
GN Name=LSM12;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1-128 (ISOFORM 2), AND VARIANT ARG-77.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP PROTEIN SEQUENCE OF 2-18; 25-37 AND 73-86, CLEAVAGE OF INITIATOR
RP METHIONINE, ACETYLATION AT ALA-2, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RA Bienvenut W.V., Waridel P., Quadroni M.;
RL Submitted (MAR-2009) to UniProtKB.
RN [4]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-75, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-75, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-75, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA Wang L., Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT liver phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q3MHD2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3MHD2-2; Sequence=VSP_028241;
CC Note=No experimental confirmation available.;
CC -!- SIMILARITY: Belongs to the LSM12 family. {ECO:0000305}.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AK055218; BAB70877.1; -; mRNA.
DR EMBL; BC044587; AAH44587.1; -; mRNA.
DR EMBL; BC105288; AAI05289.1; -; mRNA.
DR CCDS; CCDS11475.1; -. [Q3MHD2-1]
DR RefSeq; NP_689557.1; NM_152344.3. [Q3MHD2-1]
DR UniGene; Hs.355570; -.
DR ProteinModelPortal; Q3MHD2; -.
DR BioGrid; 125889; 30.
DR IntAct; Q3MHD2; 8.
DR MINT; Q3MHD2; -.
DR STRING; 9606.ENSP00000293406; -.
DR iPTMnet; Q3MHD2; -.
DR PhosphoSitePlus; Q3MHD2; -.
DR BioMuta; LSM12; -.
DR DMDM; 158705881; -.
DR EPD; Q3MHD2; -.
DR MaxQB; Q3MHD2; -.
DR PaxDb; Q3MHD2; -.
DR PeptideAtlas; Q3MHD2; -.
DR PRIDE; Q3MHD2; -.
DR DNASU; 124801; -.
DR Ensembl; ENST00000293406; ENSP00000293406; ENSG00000161654. [Q3MHD2-1]
DR Ensembl; ENST00000591247; ENSP00000466718; ENSG00000161654. [Q3MHD2-1]
DR GeneID; 124801; -.
DR KEGG; hsa:124801; -.
DR UCSC; uc002iev.3; human. [Q3MHD2-1]
DR CTD; 124801; -.
DR EuPathDB; HostDB:ENSG00000161654.9; -.
DR GeneCards; LSM12; -.
DR H-InvDB; HIX0034611; -.
DR HGNC; HGNC:26407; LSM12.
DR HPA; HPA051934; -.
DR MIM; 611793; gene.
DR neXtProt; NX_Q3MHD2; -.
DR OpenTargets; ENSG00000161654; -.
DR PharmGKB; PA142671502; -.
DR eggNOG; KOG4401; Eukaryota.
DR eggNOG; ENOG410Y6A1; LUCA.
DR GeneTree; ENSGT00390000006956; -.
DR HOGENOM; HOG000006611; -.
DR HOVERGEN; HBG057351; -.
DR InParanoid; Q3MHD2; -.
DR OMA; GKPNLND; -.
DR PhylomeDB; Q3MHD2; -.
DR ChiTaRS; LSM12; human.
DR GenomeRNAi; 124801; -.
DR PRO; PR:Q3MHD2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000161654; -.
DR CleanEx; HS_LSM12; -.
DR ExpressionAtlas; Q3MHD2; baseline and differential.
DR Genevisible; Q3MHD2; HS.
DR InterPro; IPR019181; Anticodon-binding_dom.
DR Pfam; PF09793; AD; 1.
DR SMART; SM00995; AD; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome;
KW Direct protein sequencing; Phosphoprotein; Polymorphism;
KW Reference proteome.
FT INIT_MET 1 1 Removed. {ECO:0000244|PubMed:19413330,
FT ECO:0000244|PubMed:22814378,
FT ECO:0000269|Ref.3}.
FT CHAIN 2 195 Protein LSM12 homolog.
FT /FTId=PRO_0000305126.
FT MOD_RES 2 2 N-acetylalanine.
FT {ECO:0000244|PubMed:19413330,
FT ECO:0000244|PubMed:22814378,
FT ECO:0000269|Ref.3}.
FT MOD_RES 75 75 Phosphothreonine.
FT {ECO:0000244|PubMed:19690332,
FT ECO:0000244|PubMed:23186163,
FT ECO:0000244|PubMed:24275569}.
FT VAR_SEQ 42 42 K -> ISPE (in isoform 2).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_028241.
FT VARIANT 77 77 P -> R (in dbSNP:rs17854322).
FT {ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_035166.
FT VARIANT 173 173 V -> L (in dbSNP:rs59168537).
FT /FTId=VAR_062209.
SQ SEQUENCE 195 AA; 21701 MW; BCEDE62DA43D86C7 CRC64;
MAAPPGEYFS VGSQVSCRTC QEQRLQGEVV AFDYQSKMLA LKCPSSSGKP NHADILLINL
QYVSEVEIIN DRTETPPPLA SLNVSKLASK ARTEKEEKLS QAYAISAGVS LEGQQLFQTI
HKTIKDCKWQ EKNIVVMEEV VITPPYQVEN CKGKEGSALS HVRKIVEKHF RDVESQKILQ
RSQAQQPQKE AALSS
//
ID OXLD1_HUMAN Reviewed; 147 AA.
AC Q5BKU9; A6ND24;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 12-APR-2005, sequence version 1.
DT 28-FEB-2018, entry version 88.
DE RecName: Full=Oxidoreductase-like domain-containing protein 1;
GN Name=OXLD1; Synonyms=C17orf90;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
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DR EMBL; AC139530; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC090923; AAH90923.1; -; mRNA.
DR CCDS; CCDS32766.1; -.
DR RefSeq; NP_001034931.1; NM_001039842.2.
DR UniGene; Hs.405942; -.
DR UniGene; Hs.744125; -.
DR ProteinModelPortal; Q5BKU9; -.
DR SMR; Q5BKU9; -.
DR BioGrid; 130845; 49.
DR STRING; 9606.ENSP00000363873; -.
DR BioMuta; OXLD1; -.
DR DMDM; 74736039; -.
DR EPD; Q5BKU9; -.
DR MaxQB; Q5BKU9; -.
DR PaxDb; Q5BKU9; -.
DR PeptideAtlas; Q5BKU9; -.
DR PRIDE; Q5BKU9; -.
DR Ensembl; ENST00000374741; ENSP00000363873; ENSG00000204237.
DR GeneID; 339229; -.
DR KEGG; hsa:339229; -.
DR UCSC; uc002kba.3; human.
DR CTD; 339229; -.
DR EuPathDB; HostDB:ENSG00000204237.4; -.
DR GeneCards; OXLD1; -.
DR HGNC; HGNC:27901; OXLD1.
DR HPA; HPA056878; -.
DR HPA; HPA057019; -.
DR neXtProt; NX_Q5BKU9; -.
DR OpenTargets; ENSG00000204237; -.
DR PharmGKB; PA162378543; -.
DR eggNOG; ENOG410J2ZE; Eukaryota.
DR eggNOG; ENOG4112D6M; LUCA.
DR GeneTree; ENSGT00390000003596; -.
DR HOGENOM; HOG000060261; -.
DR HOVERGEN; HBG106754; -.
DR InParanoid; Q5BKU9; -.
DR OMA; KDHIEVG; -.
DR OrthoDB; EOG091G0YG1; -.
DR PhylomeDB; Q5BKU9; -.
DR TreeFam; TF353117; -.
DR ChiTaRS; OXLD1; human.
DR GenomeRNAi; 339229; -.
DR PRO; PR:Q5BKU9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000204237; -.
DR CleanEx; HS_C17orf90; -.
DR ExpressionAtlas; Q5BKU9; baseline and differential.
DR Genevisible; Q5BKU9; HS.
DR InterPro; IPR019180; Oxidoreductase-like_N.
DR Pfam; PF09791; Oxidored-like; 1.
PE 2: Evidence at transcript level;
KW Complete proteome; Reference proteome.
FT CHAIN 1 147 Oxidoreductase-like domain-containing
FT protein 1.
FT /FTId=PRO_0000314123.
FT DOMAIN 81 108 Oxidoreductase-like.
FT CONFLICT 18 18 R -> L (in Ref. 1; AC139530).
FT {ECO:0000305}.
SQ SEQUENCE 147 AA; 15855 MW; DFDD7FD34D5FF176 CRC64;
MLLRRVVEGG RAVAAAVRGS GARRFSSPDC CQRLPGGGSF LQRHHPGAQA PDGRRKFGTD
HVEVGSQAGA DGTRPPKASL PPELQPPTNC CMSGCPNCVW VEYADRLLQH FQDGGERALA
ALEEHVADEN LKAFLRMEIR LHTRCGG
//
ID CYTSB_HUMAN Reviewed; 1068 AA.
AC Q5M775; B4DHH0; B7WNS8; Q5IBP1; Q5IBP2; Q5IBP3; Q5IBP4; Q5M772;
AC Q5M773; Q5M774; Q86XT8; Q8N4U4; Q8WU84; Q9HCQ3;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-2005, sequence version 1.
DT 28-FEB-2018, entry version 116.
DE RecName: Full=Cytospin-B;
DE AltName: Full=Nuclear structure protein 5;
DE Short=NSP5;
DE AltName: Full=Sperm antigen HCMOGT-1;
DE AltName: Full=Sperm antigen with calponin homology and coiled-coil domains 1;
GN Name=SPECC1; Synonyms=CYTSB, NSP5;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS ARG-274 AND
RP LEU-293.
RC TISSUE=Testis;
RA Komori S.;
RL Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), VARIANT LEU-293,
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=15602574; DOI=10.1038/sj.onc.1207988;
RA Sang N., Fath D.M., Giordano A.;
RT "A gene highly expressed in tumor cells encodes novel structure
RT proteins.";
RL Oncogene 23:9438-9446(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP LEU-293.
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 313-1068 (ISOFORMS 2/3), AND VARIANT
RP LEU-293.
RC TISSUE=Brain, Skin, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP CHROMOSOMAL TRANSLOCATION WITH PDGFRB.
RX PubMed=15087372; DOI=10.1158/0008-5472.CAN-03-4026;
RA Morerio C., Acquila M., Rosanda C., Rapella A., Dufour C.,
RA Locatelli F., Maserati E., Pasquali F., Panarello C.;
RT "HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile
RT myelomonocytic leukemia with t(5;17)(q33;p11.2).";
RL Cancer Res. 64:2649-2651(2004).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P.,
RA Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in
RT signaling networks.";
RL Cell 127:635-648(2006).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-131; SER-134; SER-138;
RP THR-142; SER-218; SER-847; SER-863 AND SER-912, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-218; SER-241; SER-425;
RP SER-847 AND SER-912, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE
RP SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-55; THR-78; SER-112;
RP SER-131; SER-134; SER-218; SER-241; SER-425; SER-847; SER-863 AND
RP SER-914, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA Wang L., Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT liver phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [14]
RP MYRISTOYLATION AT GLY-2 (ISOFORMS 3; 4 AND 5), CLEAVAGE OF INITIATOR
RP METHIONINE (ISOFORMS 3; 4 AND 5), AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RX PubMed=25807930; DOI=10.1002/anie.201500342;
RA Broncel M., Serwa R.A., Ciepla P., Krause E., Dallman M.J.,
RA Magee A.I., Tate E.W.;
RT "Multifunctional reagents for quantitative proteome-wide analysis of
RT protein modification in human cells and dynamic profiling of protein
RT lipidation during vertebrate development.";
RL Angew. Chem. Int. Ed. 54:5948-5951(2015).
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15602574}.
CC -!- SUBCELLULAR LOCATION: Isoform 3: Membrane {ECO:0000305}; Lipid-
CC anchor {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: Isoform 4: Membrane {ECO:0000305}; Lipid-
CC anchor {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: Isoform 5: Membrane {ECO:0000305}; Lipid-
CC anchor {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1; Synonyms=NSP5beta3beta;
CC IsoId=Q5M775-1; Sequence=Displayed;
CC Name=2; Synonyms=NSP5beta3alpha;
CC IsoId=Q5M775-2; Sequence=VSP_021164, VSP_021165;
CC Name=3; Synonyms=NSP5alpha3alpha;
CC IsoId=Q5M775-3; Sequence=VSP_021162, VSP_021164, VSP_021165;
CC Note=Initiator Met-1 is removed. Contains a N-myristoyl glycine
CC at position 2. {ECO:0000269|PubMed:25807930};
CC Name=4; Synonyms=NSP5alpha3beta;
CC IsoId=Q5M775-4; Sequence=VSP_021162;
CC Note=Initiator Met-1 is removed. Contains a N-myristoyl glycine
CC at position 2. {ECO:0000269|PubMed:25807930};
CC Name=5;
CC IsoId=Q5M775-5; Sequence=VSP_021162, VSP_021163;
CC Note=Initiator Met-1 is removed. Contains a N-myristoyl glycine
CC at position 2. {ECO:0000269|PubMed:25807930};
CC -!- TISSUE SPECIFICITY: Highly expressed in testis. Barely detectable
CC in other tissues. Also highly expressed in some cancer cell lines.
CC {ECO:0000269|PubMed:15602574}.
CC -!- DISEASE: Note=A chromosomal aberration involving CYTSB may be a
CC cause of juvenile myelomonocytic leukemia. Translocation
CC t(5;17)(q33;p11.2) with PDGFRB. {ECO:0000269|PubMed:15087372}.
CC -!- SIMILARITY: Belongs to the cytospin-A family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH33618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
CC Sequence=BAB16440.1; Type=Frameshift; Positions=8; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC and Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/HCMOGT1ID174.html";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
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DR EMBL; AB041533; BAB16440.1; ALT_FRAME; mRNA.
DR EMBL; AY816326; AAW29999.1; -; mRNA.
DR EMBL; AY816327; AAW30000.1; -; mRNA.
DR EMBL; AY816328; AAW30001.1; -; mRNA.
DR EMBL; AY816329; AAW30002.1; -; mRNA.
DR EMBL; BK005598; DAA05629.1; -; Genomic_DNA.
DR EMBL; BK005598; DAA05630.1; -; Genomic_DNA.
DR EMBL; BK005598; DAA05631.1; -; Genomic_DNA.
DR EMBL; BK005598; DAA05632.1; -; Genomic_DNA.
DR EMBL; AK295093; BAG58132.1; -; mRNA.
DR EMBL; AC005730; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC021123; AAH21123.2; -; mRNA.
DR EMBL; BC033618; AAH33618.1; ALT_INIT; mRNA.
DR EMBL; BC050058; AAH50058.1; -; mRNA.
DR CCDS; CCDS32590.1; -. [Q5M775-1]
DR CCDS; CCDS42280.1; -. [Q5M775-2]
DR CCDS; CCDS42281.1; -. [Q5M775-4]
DR CCDS; CCDS45628.1; -. [Q5M775-3]
DR CCDS; CCDS58531.1; -. [Q5M775-5]
DR RefSeq; NP_001028725.1; NM_001033553.2. [Q5M775-1]
DR RefSeq; NP_001028726.1; NM_001033554.2. [Q5M775-3]
DR RefSeq; NP_001028727.1; NM_001033555.2. [Q5M775-4]
DR RefSeq; NP_001230367.1; NM_001243438.1. [Q5M775-5]
DR RefSeq; NP_001230368.1; NM_001243439.1. [Q5M775-1]
DR RefSeq; NP_690868.3; NM_152904.4. [Q5M775-2]
DR RefSeq; XP_016880814.1; XM_017025325.1. [Q5M775-2]
DR UniGene; Hs.431045; -.
DR ProteinModelPortal; Q5M775; -.
DR SMR; Q5M775; -.
DR BioGrid; 124953; 58.
DR IntAct; Q5M775; 49.
DR STRING; 9606.ENSP00000261503; -.
DR iPTMnet; Q5M775; -.
DR PhosphoSitePlus; Q5M775; -.
DR BioMuta; SPECC1; -.
DR DMDM; 74722683; -.
DR EPD; Q5M775; -.
DR MaxQB; Q5M775; -.
DR PaxDb; Q5M775; -.
DR PeptideAtlas; Q5M775; -.
DR PRIDE; Q5M775; -.
DR Ensembl; ENST00000261503; ENSP00000261503; ENSG00000128487. [Q5M775-1]
DR Ensembl; ENST00000395522; ENSP00000378893; ENSG00000128487. [Q5M775-5]
DR Ensembl; ENST00000395525; ENSP00000378896; ENSG00000128487. [Q5M775-3]
DR Ensembl; ENST00000395527; ENSP00000378898; ENSG00000128487. [Q5M775-1]
DR Ensembl; ENST00000395529; ENSP00000378900; ENSG00000128487. [Q5M775-2]
DR Ensembl; ENST00000395530; ENSP00000378901; ENSG00000128487. [Q5M775-4]
DR GeneID; 92521; -.
DR KEGG; hsa:92521; -.
DR UCSC; uc002gwq.4; human. [Q5M775-1]
DR CTD; 92521; -.
DR DisGeNET; 92521; -.
DR EuPathDB; HostDB:ENSG00000128487.16; -.
DR GeneCards; SPECC1; -.
DR H-InvDB; HIX0027112; -.
DR HGNC; HGNC:30615; SPECC1.
DR HPA; HPA021421; -.
DR HPA; HPA021430; -.
DR MIM; 608793; gene.
DR neXtProt; NX_Q5M775; -.
DR OpenTargets; ENSG00000128487; -.
DR PharmGKB; PA164718712; -.
DR eggNOG; KOG4678; Eukaryota.
DR eggNOG; COG5069; LUCA.
DR GeneTree; ENSGT00760000118856; -.
DR InParanoid; Q5M775; -.
DR OMA; VEKDYSY; -.
DR OrthoDB; EOG091G01BX; -.
DR PhylomeDB; Q5M775; -.
DR TreeFam; TF316716; -.
DR ChiTaRS; SPECC1; human.
DR GeneWiki; SPECC1; -.
DR GenomeRNAi; 92521; -.
DR PRO; PR:Q5M775; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000128487; -.
DR ExpressionAtlas; Q5M775; baseline and differential.
DR Genevisible; Q5M775; HS.
DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR CDD; cd00014; CH; 1.
DR Gene3D; 1.10.418.10; -; 1.
DR InterPro; IPR001715; CH-domain.
DR InterPro; IPR036872; CH_dom_sf.
DR Pfam; PF00307; CH; 1.
DR SMART; SM00033; CH; 1.
DR SUPFAM; SSF47576; SSF47576; 1.
DR PROSITE; PS50021; CH; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosomal rearrangement; Coiled coil;
KW Complete proteome; Lipoprotein; Membrane; Myristate; Nucleus;
KW Phosphoprotein; Polymorphism; Proto-oncogene; Reference proteome.
FT CHAIN 1 1068 Cytospin-B.
FT /FTId=PRO_0000254033.
FT DOMAIN 962 1067 Calponin-homology (CH).
FT {ECO:0000255|PROSITE-ProRule:PRU00044}.
FT COILED 579 773 {ECO:0000255}.
FT COMPBIAS 260 372 Ser-rich.
FT MOD_RES 38 38 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q5SXY1}.
FT MOD_RES 55 55 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 78 78 Phosphothreonine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 112 112 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 131 131 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 134 134 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 137 137 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q5SXY1}.
FT MOD_RES 138 138 Phosphoserine.
FT {ECO:0000244|PubMed:18669648}.
FT MOD_RES 142 142 Phosphothreonine.
FT {ECO:0000244|PubMed:18669648}.
FT MOD_RES 218 218 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:20068231,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 241 241 Phosphoserine.
FT {ECO:0000244|PubMed:20068231,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 361 361 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q5SXY1}.
FT MOD_RES 366 366 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q5SXY1}.
FT MOD_RES 369 369 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q5SXY1}.
FT MOD_RES 425 425 Phosphoserine.
FT {ECO:0000244|PubMed:20068231,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 847 847 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:20068231,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 863 863 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 912 912 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:20068231}.
FT MOD_RES 914 914 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT VAR_SEQ 1 94 MRSAAKPWNPAIRAGGHGPDRVRPLPAASSGMKSSKSSTSL
FT AFESRLSRLKRASSEDTLNKPGSTAASGVVRLKKTATAGAI
FT SELTESRLRSGT -> MGNHSGRPEDPEP (in isoform
FT 3, isoform 4 and isoform 5).
FT {ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:15602574}.
FT /FTId=VSP_021162.
FT VAR_SEQ 785 1068 Missing (in isoform 5).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_021163.
FT VAR_SEQ 785 790 PVDEEP -> SLGSVS (in isoform 2 and
FT isoform 3). {ECO:0000303|PubMed:15602574,
FT ECO:0000303|Ref.1}.
FT /FTId=VSP_021164.
FT VAR_SEQ 791 1068 Missing (in isoform 2 and isoform 3).
FT {ECO:0000303|PubMed:15602574,
FT ECO:0000303|Ref.1}.
FT /FTId=VSP_021165.
FT VARIANT 274 274 S -> R (in dbSNP:rs9908032).
FT {ECO:0000269|Ref.1}.
FT /FTId=VAR_053055.
FT VARIANT 293 293 M -> L (in dbSNP:rs2703806).
FT {ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:15602574,
FT ECO:0000269|Ref.1}.
FT /FTId=VAR_028800.
FT VARIANT 769 769 D -> N (in dbSNP:rs35835131).
FT /FTId=VAR_053056.
FT CONFLICT 164 170 AALESQV -> VRLSPKF (in Ref. 1; BAB16440).
FT {ECO:0000305}.
FT CONFLICT 179 179 A -> S (in Ref. 1; BAB16440 and 2;
FT AAW30001). {ECO:0000305}.
FT CONFLICT 330 330 D -> N (in Ref. 5; AAH50058).
FT {ECO:0000305}.
FT CONFLICT 359 359 G -> R (in Ref. 5; AAH50058).
FT {ECO:0000305}.
FT CONFLICT 364 364 S -> I (in Ref. 5; AAH33618).
FT {ECO:0000305}.
FT CONFLICT 382 382 E -> G (in Ref. 2; AAW29999/AAW30000/
FT AAW30002). {ECO:0000305}.
FT CONFLICT 434 435 EQ -> DE (in Ref. 5; AAH50058).
FT {ECO:0000305}.
FT CONFLICT 831 831 R -> G (in Ref. 2; AAW30000/AAW30002).
FT {ECO:0000305}.
SQ SEQUENCE 1068 AA; 118585 MW; E6FB6987C835A1CA CRC64;
MRSAAKPWNP AIRAGGHGPD RVRPLPAASS GMKSSKSSTS LAFESRLSRL KRASSEDTLN
KPGSTAASGV VRLKKTATAG AISELTESRL RSGTGAFTTT KRTGIPAPRE FSVTVSRERS
VPRGPSNPRK SVSSPTSSNT PTPTKHLRTP STKPKQENEG GEKAALESQV RELLAEAKAK
DSEINRLRSE LKKYKEKRTL NAEGTDALGP NVDGTSVSPG DTEPMIRALE EKNKNFQKEL
SDLEEENRVL KEKLIYLEHS PNSEGAASHT GDSSCPTSIT QESSFGSPTG NQMSSDIDEY
KKNIHGNALR TSGSSSSDVT KASLSPDASD FEHITAETPS RPLSSTSNPF KSSKCSTAGS
SPNSVSELSL ASLTEKIQKM EENHHSTAEE LQATLQELSD QQQMVQELTA ENEKLVDEKT
ILETSFHQHR ERAEQLSQEN EKLMNLLQER VKNEEPTTQE GKIIELEQKC TGILEQGRFE
REKLLNIQQQ LTCSLRKVEE ENQGALEMIK RLKEENEKLN EFLELERHNN NMMAKTLEEC
RVTLEGLKME NGSLKSHLQG EKQKATEASA VEQTAESCEV QEMLKVARAE KDLLELSCNE
LRQELLKANG EIKHVSSLLA KVEKDYSYLK EICDHQAEQL SRTSLKLQEK ASESDAEIKD
MKETIFELED QVEQHRAVKL HNNQLISELE SSVIKLEEQK SDLERQLKTL TKQMKEETEE
WRRFQADLQT AVVVANDIKC EAQQELRTVK RKLLEEEEKN ARLQKELGDV QGHGRVVTSR
AAPPPVDEEP ESSEVDAAGR WPGVCVSRTS PTPPESATTV KSLIKSFDLG RPGGAGQNIS
VHKTPRSPLS GIPVRTAPAA AVSPMQRHST YSSVRPASRG VTQRLDLPDL PLSDILKGRT
ETLKPDPHLR KSPSLESLSR PPSLGFGDTR LLSASTRAWK PQSKLSVERK DPLAALAREY
GGSKRNALLK WCQKKTQGYA NIDITNFSSS WSDGLAFCAL LHTYLPAHIP YQELNSQEKK
RNLLLAFEAA ESVGIKPSLE LSEMLYTDRP DWQSVMQYVA QIYKYFET
//
ID ANR40_HUMAN Reviewed; 368 AA.
AC Q6AI12; Q96E32;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 27-JUN-2006, sequence version 2.
DT 28-FEB-2018, entry version 112.
DE RecName: Full=Ankyrin repeat domain-containing protein 40;
GN Name=ANKRD40;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP PROTEIN SEQUENCE OF 1-13 AND 178-198, ACETYLATION AT MET-1, AND
RP IDENTIFICATION BY MASS SPECTROMETRY.
RC TISSUE=Ovarian carcinoma;
RA Bienvenut W.V., Lempens A., Norman J.C.;
RL Submitted (OCT-2009) to UniProtKB.
RN [4]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22223895; DOI=10.1074/mcp.M111.015131;
RA Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C.,
RA Meinnel T., Giglione C.;
RT "Comparative large-scale characterisation of plant vs. mammal proteins
RT reveals similar and idiosyncratic N-alpha acetylation features.";
RL Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
RN [5]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- INTERACTION:
CC P23526:AHCY; NbExp=6; IntAct=EBI-2838246, EBI-1053240;
CC Q13526:PIN1; NbExp=7; IntAct=EBI-2838246, EBI-714158;
CC P54725:RAD23A; NbExp=3; IntAct=EBI-2838246, EBI-746453;
CC P40938:RFC3; NbExp=4; IntAct=EBI-2838246, EBI-1055010;
CC O00560:SDCBP; NbExp=3; IntAct=EBI-2838246, EBI-727004;
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DR EMBL; CR627413; CAH10502.1; -; mRNA.
DR EMBL; BC012978; AAH12978.1; -; mRNA.
DR CCDS; CCDS11572.1; -.
DR RefSeq; NP_443087.1; NM_052855.3.
DR UniGene; Hs.463426; -.
DR ProteinModelPortal; Q6AI12; -.
DR SMR; Q6AI12; -.
DR BioGrid; 124821; 37.
DR IntAct; Q6AI12; 8.
DR MINT; Q6AI12; -.
DR iPTMnet; Q6AI12; -.
DR PhosphoSitePlus; Q6AI12; -.
DR BioMuta; ANKRD40; -.
DR DMDM; 109940224; -.
DR EPD; Q6AI12; -.
DR MaxQB; Q6AI12; -.
DR PaxDb; Q6AI12; -.
DR PeptideAtlas; Q6AI12; -.
DR PRIDE; Q6AI12; -.
DR DNASU; 91369; -.
DR Ensembl; ENST00000285243; ENSP00000285243; ENSG00000154945.
DR GeneID; 91369; -.
DR KEGG; hsa:91369; -.
DR UCSC; uc002iso.4; human.
DR CTD; 91369; -.
DR EuPathDB; HostDB:ENSG00000154945.6; -.
DR GeneCards; ANKRD40; -.
DR HGNC; HGNC:28233; ANKRD40.
DR HPA; HPA021668; -.
DR HPA; HPA021759; -.
DR neXtProt; NX_Q6AI12; -.
DR OpenTargets; ENSG00000154945; -.
DR PharmGKB; PA142672607; -.
DR eggNOG; ENOG410IN88; Eukaryota.
DR eggNOG; ENOG410XSX1; LUCA.
DR GeneTree; ENSGT00390000007792; -.
DR HOGENOM; HOG000294200; -.
DR HOVERGEN; HBG058022; -.
DR InParanoid; Q6AI12; -.
DR OMA; GAFPFNM; -.
DR OrthoDB; EOG091G0X80; -.
DR PhylomeDB; Q6AI12; -.
DR TreeFam; TF331472; -.
DR ChiTaRS; ANKRD40; human.
DR GenomeRNAi; 91369; -.
DR PRO; PR:Q6AI12; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000154945; -.
DR CleanEx; HS_ANKRD40; -.
DR ExpressionAtlas; Q6AI12; baseline and differential.
DR Genevisible; Q6AI12; HS.
DR CDD; cd00204; ANK; 1.
DR Gene3D; 1.25.40.20; -; 1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR020683; Ankyrin_rpt-contain_dom.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR SMART; SM00248; ANK; 2.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 1.
PE 1: Evidence at protein level;
KW Acetylation; ANK repeat; Complete proteome; Direct protein sequencing;
KW Reference proteome; Repeat.
FT CHAIN 1 368 Ankyrin repeat domain-containing protein
FT 40.
FT /FTId=PRO_0000244368.
FT REPEAT 9 38 ANK 1.
FT REPEAT 43 72 ANK 2.
FT COMPBIAS 99 106 Poly-Asp.
FT COMPBIAS 148 247 Pro-rich.
FT MOD_RES 1 1 N-acetylmethionine.
FT {ECO:0000244|PubMed:22223895,
FT ECO:0000244|PubMed:22814378,
FT ECO:0000269|Ref.3}.
FT CONFLICT 352 352 T -> A (in Ref. 1; CAH10502).
FT {ECO:0000305}.
SQ SEQUENCE 368 AA; 41088 MW; 17999B7FDD3C6A52 CRC64;
MNALLEQKEQ QERLREAAAL GDIREVQKLV ESGVDVNSQN EVNGWTCLHW ACKRNHGQVV
SYLLKSGADK EILTTKGEMP VQLTSRREIR KIMGVEEEDD DDDDDDNLPQ LKKESELPFV
PNYLANPAFP FIYTPTAEDS AQMQNGGPST PPASPPADGS PPLLPPGEPP LLGTFPRDHT
SLALVQNGDV SAPSAILRTP ESTKPGPVCQ PPVSQSRSLF SSVPSKPPMS LEPQNGTYAG
PAPAFQPFFF TGAFPFNMQE LVLKVRIQNP SLRENDFIEI ELDRQELTYQ ELLRVCCCEL
GVNPDQVEKI RKLPNTLLRK DKDVARLQDF QELELVLMIS ENNFLFRNAA STLTERPCYN
RRASKLTY
//
ID CQ099_HUMAN Reviewed; 265 AA.
AC Q6UX52;
DT 23-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2012, sequence version 2.
DT 28-FEB-2018, entry version 96.
DE RecName: Full=Uncharacterized protein C17orf99;
DE Flags: Precursor;
GN Name=C17orf99; ORFNames=UNQ464/PRO809;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-101.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale
RT effort to identify novel human secreted and transmembrane proteins: a
RT bioinformatics assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP PROTEIN SEQUENCE OF 21-35.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally
RT verified cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
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CC -----------------------------------------------------------------------
DR EMBL; AY358510; AAQ88874.1; -; mRNA.
DR EMBL; AC021593; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS54171.1; -.
DR RefSeq; NP_001156547.1; NM_001163075.1.
DR UniGene; Hs.633034; -.
DR ProteinModelPortal; Q6UX52; -.
DR iPTMnet; Q6UX52; -.
DR PhosphoSitePlus; Q6UX52; -.
DR BioMuta; C17orf99; -.
DR DMDM; 387912830; -.
DR PaxDb; Q6UX52; -.
DR PRIDE; Q6UX52; -.
DR Ensembl; ENST00000340363; ENSP00000343493; ENSG00000187997.
DR GeneID; 100141515; -.
DR KEGG; hsa:100141515; -.
DR UCSC; uc002jus.5; human.
DR CTD; 100141515; -.
DR EuPathDB; HostDB:ENSG00000187997.11; -.
DR GeneCards; C17orf99; -.
DR H-InvDB; HIX0202553; -.
DR HGNC; HGNC:34490; C17orf99.
DR HPA; HPA029655; -.
DR neXtProt; NX_Q6UX52; -.
DR OpenTargets; ENSG00000187997; -.
DR PharmGKB; PA162378601; -.
DR eggNOG; ENOG410IZ79; Eukaryota.
DR eggNOG; ENOG411140V; LUCA.
DR GeneTree; ENSGT00390000004141; -.
DR HOGENOM; HOG000171320; -.
DR InParanoid; Q6UX52; -.
DR OMA; PRVEISC; -.
DR OrthoDB; EOG091G0L4V; -.
DR TreeFam; TF337680; -.
DR GenomeRNAi; 100141515; -.
DR PRO; PR:Q6UX52; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000187997; -.
DR CleanEx; HS_C17orf99; -.
DR ExpressionAtlas; Q6UX52; baseline and differential.
DR Genevisible; Q6UX52; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
PE 1: Evidence at protein level;
KW Complete proteome; Direct protein sequencing; Glycoprotein;
KW Polymorphism; Reference proteome; Secreted; Signal.
FT SIGNAL 1 20 {ECO:0000269|PubMed:15340161}.
FT CHAIN 21 265 Uncharacterized protein C17orf99.
FT /FTId=PRO_0000272654.
FT COMPBIAS 52 57 Poly-Pro.
FT CARBOHYD 86 86 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 132 132 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT VARIANT 101 101 W -> R (in dbSNP:rs4789017).
FT {ECO:0000269|PubMed:12975309}.
FT /FTId=VAR_067466.
SQ SEQUENCE 265 AA; 29091 MW; 0F3EB3BEDD972DC6 CRC64;
MGLPGLFCLA VLAASSFSKA REEEITPVVS IAYKVLEVFP KGRWVLITCC APQPPPPITY
SLCGTKNIKV AKKVVKTHEP ASFNLNVTLK SSPDLLTYFC WASSTSGAHV DSARLQMHWE
LWSKPVSELR ANFTLQDRGA GPRVEMICQA SSGSPPITNS LIGKDGQVHL QQRPCHRQPA
NFSFLPSQTS DWFWCQAANN ANVQHSALTV VPPGGDQKME DWQGPLESPI LALPLYRSTR
RLSEEEFGGF RIGNGEVRGR KAAAM
//
ID SMIM5_HUMAN Reviewed; 77 AA.
AC Q71RC9;
DT 28-JUN-2011, integrated into UniProtKB/Swiss-Prot.
DT 28-JUN-2011, sequence version 2.
DT 27-SEP-2017, entry version 73.
DE RecName: Full=Small integral membrane protein 5;
GN Name=SMIM5; Synonyms=C17orf109;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Huang Y., Zhou X.M., Zhang P.P., Jiang H.Q., Qin W.X., Zhao X.T.,
RA Wan D.F., Gu J.R.;
RT "Novel human cDNA clones with function of inhibiting cancer cell
RT growth.";
RL Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- INTERACTION:
CC P53367:ARFIP1; NbExp=4; IntAct=EBI-12334905, EBI-2808808;
CC O43765:SGTA; NbExp=4; IntAct=EBI-12334905, EBI-347996;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ15244.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=EAW89296.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AF370408; AAQ15244.1; ALT_SEQ; mRNA.
DR EMBL; AC087749; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471099; EAW89296.1; ALT_SEQ; Genomic_DNA.
DR CCDS; CCDS54165.1; -.
DR RefSeq; NP_001156467.1; NM_001162995.2.
DR RefSeq; XP_011523420.1; XM_011525118.2.
DR RefSeq; XP_011523421.1; XM_011525119.2.
DR RefSeq; XP_016880435.1; XM_017024946.1.
DR RefSeq; XP_016880436.1; XM_017024947.1.
DR RefSeq; XP_016880437.1; XM_017024948.1.
DR UniGene; Hs.528605; -.
DR BioGrid; 568424; 35.
DR IntAct; Q71RC9; 7.
DR STRING; 9606.ENSP00000364363; -.
DR BioMuta; SMIM5; -.
DR DMDM; 338817840; -.
DR PaxDb; Q71RC9; -.
DR PeptideAtlas; Q71RC9; -.
DR PRIDE; Q71RC9; -.
DR Ensembl; ENST00000375215; ENSP00000364363; ENSG00000204323.
DR Ensembl; ENST00000537494; ENSP00000477017; ENSG00000204323.
DR GeneID; 643008; -.
DR KEGG; hsa:643008; -.
DR UCSC; uc002jow.3; human.
DR CTD; 643008; -.
DR DisGeNET; 643008; -.
DR EuPathDB; HostDB:ENSG00000204323.5; -.
DR GeneCards; SMIM5; -.
DR HGNC; HGNC:40030; SMIM5.
DR HPA; HPA065332; -.
DR HPA; HPA071268; -.
DR neXtProt; NX_Q71RC9; -.
DR OpenTargets; ENSG00000204323; -.
DR eggNOG; ENOG410J6RA; Eukaryota.
DR eggNOG; ENOG411195A; LUCA.
DR GeneTree; ENSGT00520000062027; -.
DR HOGENOM; HOG000143677; -.
DR InParanoid; Q71RC9; -.
DR OMA; LIACSCC; -.
DR OrthoDB; EOG091G169O; -.
DR TreeFam; TF330807; -.
DR GenomeRNAi; 643008; -.
DR PRO; PR:Q71RC9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000204323; -.
DR Genevisible; Q71RC9; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR031671; DUF4713.
DR Pfam; PF15831; DUF4713; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1 77 Small integral membrane protein 5.
FT /FTId=PRO_0000410867.
FT TRANSMEM 32 52 Helical. {ECO:0000255}.
SQ SEQUENCE 77 AA; 8540 MW; 7CC220E16930C30A CRC64;
MAATDFVQEM RAVGERLLLK LQRLPQAEPV EIVAFSVIIL FTATVLLLLL IACSCCCTHC
CCPERRGRKV QVQPTPP
//
ID TMUB2_HUMAN Reviewed; 321 AA.
AC Q71RG4; B3KU81; Q8NDI2; Q9BPZ5; Q9HAG3;
DT 11-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 11-JUL-2006, sequence version 2.
DT 28-FEB-2018, entry version 110.
DE RecName: Full=Transmembrane and ubiquitin-like domain-containing protein 2;
GN Name=TMUB2; ORFNames=FP2653, UNQ1897/PRO4343;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H.,
RA Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y.,
RA Shu H., Chen X., Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S.,
RA Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale
RT effort to identify novel human secreted and transmembrane proteins: a
RT bioinformatics assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain, and Embryo;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Fetal brain;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Fetal kidney;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
RC TISSUE=Brain, Eye, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC Q9BXK5:BCL2L13; NbExp=3; IntAct=EBI-2820477, EBI-747430;
CC O43765:SGTA; NbExp=3; IntAct=EBI-2820477, EBI-347996;
CC Q9UMX0-2:UBQLN1; NbExp=3; IntAct=EBI-2820477, EBI-10173939;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q71RG4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q71RG4-2; Sequence=VSP_019700;
CC Name=3;
CC IsoId=Q71RG4-3; Sequence=VSP_019700, VSP_019703, VSP_019704;
CC Note=No experimental confirmation available.;
CC Name=4;
CC IsoId=Q71RG4-4; Sequence=VSP_019700, VSP_019701, VSP_019702;
CC Note=No experimental confirmation available.;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AF370373; AAQ15209.1; -; mRNA.
DR EMBL; AY358780; AAQ89140.1; -; mRNA.
DR EMBL; AK021759; BAB13886.1; -; mRNA.
DR EMBL; AK096631; BAG53343.1; -; mRNA.
DR EMBL; CR622157; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL833899; CAD38755.1; -; mRNA.
DR EMBL; BC001792; AAH01792.1; -; mRNA.
DR EMBL; BC004306; AAH04306.1; -; mRNA.
DR EMBL; BC063489; AAH63489.1; -; mRNA.
DR CCDS; CCDS11479.1; -. [Q71RG4-2]
DR CCDS; CCDS54134.1; -. [Q71RG4-1]
DR RefSeq; NP_001070142.1; NM_001076674.1. [Q71RG4-1]
DR RefSeq; NP_001317164.1; NM_001330235.1.
DR RefSeq; NP_077012.2; NM_024107.2. [Q71RG4-2]
DR RefSeq; NP_803190.2; NM_177441.2. [Q71RG4-2]
DR RefSeq; XP_011523500.1; XM_011525198.2.
DR RefSeq; XP_011523503.1; XM_011525201.2. [Q71RG4-1]
DR RefSeq; XP_011523507.1; XM_011525205.2. [Q71RG4-2]
DR RefSeq; XP_011523508.1; XM_011525206.2.
DR RefSeq; XP_011523509.1; XM_011525207.2.
DR RefSeq; XP_011523510.1; XM_011525208.2.
DR RefSeq; XP_011523511.1; XM_011525209.2.
DR RefSeq; XP_016880537.1; XM_017025048.1.
DR RefSeq; XP_016880538.1; XM_017025049.1.
DR RefSeq; XP_016880539.1; XM_017025050.1.
DR RefSeq; XP_016880540.1; XM_017025051.1.
DR UniGene; Hs.181391; -.
DR ProteinModelPortal; Q71RG4; -.
DR SMR; Q71RG4; -.
DR BioGrid; 122537; 12.
DR DIP; DIP-60896N; -.
DR IntAct; Q71RG4; 6.
DR STRING; 9606.ENSP00000444565; -.
DR iPTMnet; Q71RG4; -.
DR PhosphoSitePlus; Q71RG4; -.
DR BioMuta; TMUB2; -.
DR DMDM; 110287995; -.
DR EPD; Q71RG4; -.
DR MaxQB; Q71RG4; -.
DR PaxDb; Q71RG4; -.
DR PeptideAtlas; Q71RG4; -.
DR PRIDE; Q71RG4; -.
DR DNASU; 79089; -.
DR Ensembl; ENST00000319511; ENSP00000313214; ENSG00000168591. [Q71RG4-2]
DR Ensembl; ENST00000357984; ENSP00000350672; ENSG00000168591. [Q71RG4-2]
DR Ensembl; ENST00000538716; ENSP00000444565; ENSG00000168591. [Q71RG4-1]
DR Ensembl; ENST00000587172; ENSP00000465153; ENSG00000168591. [Q71RG4-4]
DR Ensembl; ENST00000587989; ENSP00000466971; ENSG00000168591. [Q71RG4-1]
DR Ensembl; ENST00000589785; ENSP00000467364; ENSG00000168591. [Q71RG4-2]
DR Ensembl; ENST00000589856; ENSP00000467960; ENSG00000168591. [Q71RG4-3]
DR Ensembl; ENST00000590235; ENSP00000465015; ENSG00000168591. [Q71RG4-4]
DR Ensembl; ENST00000592825; ENSP00000466189; ENSG00000168591. [Q71RG4-4]
DR GeneID; 79089; -.
DR KEGG; hsa:79089; -.
DR UCSC; uc002ifo.4; human. [Q71RG4-1]
DR CTD; 79089; -.
DR EuPathDB; HostDB:ENSG00000168591.15; -.
DR GeneCards; TMUB2; -.
DR H-InvDB; HIX0013877; -.
DR HGNC; HGNC:28459; TMUB2.
DR HPA; HPA043137; -.
DR neXtProt; NX_Q71RG4; -.
DR OpenTargets; ENSG00000168591; -.
DR PharmGKB; PA145147917; -.
DR eggNOG; ENOG410IG1T; Eukaryota.
DR eggNOG; ENOG4111WH7; LUCA.
DR GeneTree; ENSGT00390000014069; -.
DR HOGENOM; HOG000232067; -.
DR HOVERGEN; HBG050920; -.
DR InParanoid; Q71RG4; -.
DR OMA; PVSSQAM; -.
DR OrthoDB; EOG091G0NYR; -.
DR PhylomeDB; Q71RG4; -.
DR TreeFam; TF329265; -.
DR ChiTaRS; TMUB2; human.
DR GeneWiki; TMUB2; -.
DR GenomeRNAi; 79089; -.
DR PRO; PR:Q71RG4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000168591; -.
DR CleanEx; HS_TMUB2; -.
DR ExpressionAtlas; Q71RG4; baseline and differential.
DR Genevisible; Q71RG4; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR029071; Ubiquitin-like_domsf.
DR InterPro; IPR000626; Ubiquitin_dom.
DR Pfam; PF00240; ubiquitin; 1.
DR SMART; SM00213; UBQ; 1.
DR SUPFAM; SSF54236; SSF54236; 1.
DR PROSITE; PS50053; UBIQUITIN_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Membrane; Polymorphism;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 321 Transmembrane and ubiquitin-like domain-
FT containing protein 2.
FT /FTId=PRO_0000245312.
FT TRANSMEM 36 56 Helical. {ECO:0000255}.
FT TRANSMEM 266 286 Helical. {ECO:0000255}.
FT TRANSMEM 295 315 Helical. {ECO:0000255}.
FT DOMAIN 174 247 Ubiquitin-like. {ECO:0000255|PROSITE-
FT ProRule:PRU00214}.
FT VAR_SEQ 1 20 Missing (in isoform 2, isoform 3 and
FT isoform 4). {ECO:0000303|PubMed:12975309,
FT ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:15498874,
FT ECO:0000303|PubMed:17974005}.
FT /FTId=VSP_019700.
FT VAR_SEQ 105 114 GNDEKAEEAG -> ANTSLDKKAR (in isoform 4).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_019701.
FT VAR_SEQ 115 321 Missing (in isoform 4).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_019702.
FT VAR_SEQ 201 201 S -> R (in isoform 3).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_019703.
FT VAR_SEQ 202 321 Missing (in isoform 3).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_019704.
FT VARIANT 228 228 R -> H (in dbSNP:rs9895154).
FT /FTId=VAR_052695.
FT CONFLICT 265 265 S -> R (in Ref. 5; CAD38755).
FT {ECO:0000305}.
SQ SEQUENCE 321 AA; 33788 MW; C48656AD40A72454 CRC64;
MISRHLQNNL MSVDPASSQA MELSDVTLIE GVGNEVMVVA GVVVLILALV LAWLSTYVAD
SGSNQLLGAI VSAGDTSVLH LGHVDHLVAG QGNPEPTELP HPSEGNDEKA EEAGEGRGDS
TGEAGAGGGV EPSLEHLLDI QGLPKRQAGA GSSSPEAPLR SEDSTCLPPS PGLITVRLKF
LNDTEELAVA RPEDTVGALK SKYFPGQESQ MKLIYQGRLL QDPARTLRSL NITDNCVIHC
HRSPPGSAVP GPSASLAPSA TEPPSLGVNV GSLMVPVFVV LLGVVWYFRI NYRQFFTAPA
TVSLVGVTVF FSFLVFGMYG R
//
ID OTOP2_HUMAN Reviewed; 562 AA.
AC Q7RTS6;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 25-APR-2018, entry version 89.
DE RecName: Full=Proton channel OTOP2 {ECO:0000305};
DE AltName: Full=Otopetrin-2 {ECO:0000303|PubMed:12651873};
GN Name=OTOP2 {ECO:0000303|PubMed:12651873, ECO:0000312|HGNC:HGNC:19657};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP IDENTIFICATION.
RX PubMed=12651873; DOI=10.1093/hmg/ddg087;
RA Hurle B., Ignatova E., Massironi S.M., Mashimo T., Rios X.,
RA Thalmann I., Thalmann R., Ornitz D.M.;
RT "Non-syndromic vestibular disorder with otoconial agenesis in
RT tilted/mergulhador mice caused by mutations in otopetrin 1.";
RL Hum. Mol. Genet. 12:777-789(2003).
RN [3]
RP VARIANT [LARGE SCALE ANALYSIS] VAL-392.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal
RT cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Proton-selective channel that specifically transports
CC protons into cells. Proton-selective channel activity is probably
CC required in cell types that use changes in intracellular pH for
CC cell signaling or to regulate biochemical or developmental
CC processes. {ECO:0000250|UniProtKB:Q80SX5}.
CC -!- SUBCELLULAR LOCATION: Cell membrane
CC {ECO:0000250|UniProtKB:Q80VM9}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- SIMILARITY: Belongs to the otopetrin family. {ECO:0000305}.
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DR EMBL; AC068874; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC087651; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BK000567; DAA00895.1; -; mRNA.
DR CCDS; CCDS11708.1; -.
DR RefSeq; NP_835454.1; NM_178160.2.
DR RefSeq; XP_011523781.1; XM_011525479.1.
DR UniGene; Hs.352515; -.
DR ProteinModelPortal; Q7RTS6; -.
DR IntAct; Q7RTS6; 3.
DR MINT; Q7RTS6; -.
DR STRING; 9606.ENSP00000332528; -.
DR iPTMnet; Q7RTS6; -.
DR PhosphoSitePlus; Q7RTS6; -.
DR BioMuta; OTOP2; -.
DR DMDM; 296439281; -.
DR PaxDb; Q7RTS6; -.
DR PeptideAtlas; Q7RTS6; -.
DR PRIDE; Q7RTS6; -.
DR DNASU; 92736; -.
DR Ensembl; ENST00000331427; ENSP00000332528; ENSG00000183034.
DR Ensembl; ENST00000580223; ENSP00000463837; ENSG00000183034.
DR GeneID; 92736; -.
DR KEGG; hsa:92736; -.
DR UCSC; uc010wrp.2; human.
DR CTD; 92736; -.
DR EuPathDB; HostDB:ENSG00000183034.12; -.
DR GeneCards; OTOP2; -.
DR H-InvDB; HIX0021749; -.
DR HGNC; HGNC:19657; OTOP2.
DR HPA; HPA024524; -.
DR HPA; HPA053090; -.
DR MIM; 607827; gene.
DR neXtProt; NX_Q7RTS6; -.
DR OpenTargets; ENSG00000183034; -.
DR PharmGKB; PA134930692; -.
DR eggNOG; KOG4740; Eukaryota.
DR eggNOG; ENOG410XVS5; LUCA.
DR GeneTree; ENSGT00530000063198; -.
DR HOGENOM; HOG000090257; -.
DR HOVERGEN; HBG056633; -.
DR InParanoid; Q7RTS6; -.
DR OMA; CIHTHLD; -.
DR OrthoDB; EOG091G03VC; -.
DR PhylomeDB; Q7RTS6; -.
DR TreeFam; TF313428; -.
DR GenomeRNAi; 92736; -.
DR PRO; PR:Q7RTS6; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000183034; -.
DR CleanEx; HS_OTOP2; -.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0006811; P:ion transport; IEA:UniProtKB-KW.
DR InterPro; IPR004878; Otopetrin.
DR PANTHER; PTHR21522; PTHR21522; 1.
DR Pfam; PF03189; Otopetrin; 3.
PE 2: Evidence at transcript level;
KW Cell membrane; Complete proteome; Hydrogen ion transport; Ion channel;
KW Ion transport; Membrane; Polymorphism; Reference proteome;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1 562 Proton channel OTOP2.
FT /FTId=PRO_0000313820.
FT TRANSMEM 30 50 Helical. {ECO:0000255}.
FT TRANSMEM 62 82 Helical. {ECO:0000255}.
FT TRANSMEM 100 120 Helical. {ECO:0000255}.
FT TRANSMEM 137 157 Helical. {ECO:0000255}.
FT TRANSMEM 169 189 Helical. {ECO:0000255}.
FT TRANSMEM 241 261 Helical. {ECO:0000255}.
FT TRANSMEM 289 309 Helical. {ECO:0000255}.
FT TRANSMEM 324 344 Helical. {ECO:0000255}.
FT TRANSMEM 371 391 Helical. {ECO:0000255}.
FT TRANSMEM 402 422 Helical. {ECO:0000255}.
FT TRANSMEM 495 515 Helical. {ECO:0000255}.
FT TRANSMEM 527 547 Helical. {ECO:0000255}.
FT VARIANT 392 392 A -> V (in a colorectal cancer sample;
FT somatic mutation; dbSNP:rs148548570).
FT {ECO:0000269|PubMed:16959974}.
FT /FTId=VAR_037760.
FT VARIANT 465 465 G -> W (in dbSNP:rs6501741).
FT /FTId=VAR_037761.
SQ SEQUENCE 562 AA; 62236 MW; 07B46C4A06C655D3 CRC64;
MSEELAQGPK ESPPAPRAGP REVWKKGGRL LSVLLAVNVL LLACTLISGG AFNKVAVYDT
DVFALLTAMM LLATLWILFY LLRTVRCPCA VPYRDAHAGP IWLRGGLVLF GICTLIMDVF
KTGYYSSFFE CQSAIKILHP LIQAVFVIIQ TYFLWVSAKD CVHVHLDLTW CGLMFTLTTN
LAIWMAAVVD ESVHQSHSYS SSHSNASHAR LISDQHADNP VGGDSCLCST AVCQIFQQGY
FYLYPFNIEY SLFASTMLYV MWKNVGRFLA STPGHSHTPT PVSLFRETFF AGPVLGLLLF
VVGLAVFIIY EVQVSGDGSR TRQALVIYYS FNIVCLGLTT LVSLSGSIIY RFDRRAMDHH
KNPTRTLDVA LLMGAALGQY AISYYSIVAV VAGTPQDLLA GLNLTHALLM IAQHTFQNMF
IIESLHRGPP GAEPHSTHPK EPCQDLTFTN LDALHTLSAC PPNPGLVSPS PSDQREAVAI
VSTPRSQWRR QCLKDISLFL LLCNVILWIM PAFGARPHFS NTVEVDFYGY SLWAVIVNIC
LPFGIFYRMH AVSSLLEVYV LS
//
ID VMO1_HUMAN Reviewed; 202 AA.
AC Q7Z5L0; C9JQ15; E9PAU9; E9PGP4; Q3SXP1; Q8IUY1;
DT 01-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 28-FEB-2018, entry version 105.
DE RecName: Full=Vitelline membrane outer layer protein 1 homolog;
DE Flags: Precursor;
GN Name=VMO1; ORFNames=UNQ6350/PRO21055;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Ding P., Han W., Ying W., Liu Y., Wang L., Qiu X., Ma D.;
RL Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT
RP ALA-26.
RG The Cancer Genome Anatomy Project (CGAP) at the National Cancer Institute;
RL Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale
RT effort to identify novel human secreted and transmembrane proteins: a
RT bioinformatics assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Alveolar macrophage;
RG The Cancer Genome Anatomy Project (CGAP) at the National Cancer Institute;
RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ALA-26.
RC TISSUE=Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP PROTEIN SEQUENCE OF 25-39.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally
RT verified cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q7Z5L0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z5L0-2; Sequence=VSP_045706, VSP_045707;
CC Note=No experimental confirmation available.;
CC Name=3;
CC IsoId=Q7Z5L0-3; Sequence=VSP_045708;
CC Note=No experimental confirmation available.;
CC Name=4;
CC IsoId=Q7Z5L0-4; Sequence=VSP_047219;
CC Note=No experimental confirmation available.;
CC -!- SIMILARITY: Belongs to the VMO1 family. {ECO:0000305}.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AF521892; AAP80865.1; -; mRNA.
DR EMBL; BE669879; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AY359099; AAQ89457.1; -; mRNA.
DR EMBL; CD367473; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC233723; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC038467; AAH38467.1; -; mRNA.
DR EMBL; BC104195; AAI04196.1; -; mRNA.
DR CCDS; CCDS11055.1; -. [Q7Z5L0-1]
DR CCDS; CCDS45585.1; -. [Q7Z5L0-2]
DR CCDS; CCDS45586.1; -. [Q7Z5L0-3]
DR CCDS; CCDS45587.1; -. [Q7Z5L0-4]
DR RefSeq; NP_001138411.1; NM_001144939.1. [Q7Z5L0-4]
DR RefSeq; NP_001138412.1; NM_001144940.1. [Q7Z5L0-3]
DR RefSeq; NP_001138413.1; NM_001144941.1. [Q7Z5L0-2]
DR RefSeq; NP_872372.1; NM_182566.2. [Q7Z5L0-1]
DR UniGene; Hs.122561; -.
DR ProteinModelPortal; Q7Z5L0; -.
DR SMR; Q7Z5L0; -.
DR iPTMnet; Q7Z5L0; -.
DR PhosphoSitePlus; Q7Z5L0; -.
DR BioMuta; VMO1; -.
DR DMDM; 60390935; -.
DR PaxDb; Q7Z5L0; -.
DR PeptideAtlas; Q7Z5L0; -.
DR PRIDE; Q7Z5L0; -.
DR Ensembl; ENST00000328739; ENSP00000328397; ENSG00000182853. [Q7Z5L0-1]
DR Ensembl; ENST00000354194; ENSP00000346133; ENSG00000182853. [Q7Z5L0-2]
DR Ensembl; ENST00000416307; ENSP00000390450; ENSG00000182853. [Q7Z5L0-3]
DR Ensembl; ENST00000441199; ENSP00000408166; ENSG00000182853. [Q7Z5L0-4]
DR GeneID; 284013; -.
DR KEGG; hsa:284013; -.
DR UCSC; uc002fyx.4; human. [Q7Z5L0-1]
DR CTD; 284013; -.
DR DisGeNET; 284013; -.
DR EuPathDB; HostDB:ENSG00000182853.11; -.
DR GeneCards; VMO1; -.
DR HGNC; HGNC:30387; VMO1.
DR HPA; HPA023038; -.
DR neXtProt; NX_Q7Z5L0; -.
DR OpenTargets; ENSG00000182853; -.
DR PharmGKB; PA142670619; -.
DR eggNOG; ENOG410IZ9K; Eukaryota.
DR eggNOG; ENOG4111VSS; LUCA.
DR GeneTree; ENSGT00390000009313; -.
DR HOGENOM; HOG000234360; -.
DR HOVERGEN; HBG017336; -.
DR InParanoid; Q7Z5L0; -.
DR OMA; RFRCSDG; -.
DR OrthoDB; EOG091G0MHO; -.
DR PhylomeDB; Q7Z5L0; -.
DR TreeFam; TF315374; -.
DR GenomeRNAi; 284013; -.
DR PRO; PR:Q7Z5L0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000182853; -.
DR CleanEx; HS_VMO1; -.
DR Genevisible; Q7Z5L0; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR CDD; cd00220; VMO-I; 1.
DR Gene3D; 2.100.10.20; -; 1.
DR InterPro; IPR005515; VOMI.
DR InterPro; IPR036706; VOMI_sf.
DR PANTHER; PTHR18841; PTHR18841; 1.
DR Pfam; PF03762; VOMI; 1.
DR SUPFAM; SSF51092; SSF51092; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Direct protein sequencing;
KW Disulfide bond; Polymorphism; Reference proteome; Secreted; Signal.
FT SIGNAL 1 24 {ECO:0000269|PubMed:15340161}.
FT CHAIN 25 202 Vitelline membrane outer layer protein 1
FT homolog.
FT /FTId=PRO_0000036407.
FT DISULFID 53 86 {ECO:0000250}.
FT DISULFID 114 146 {ECO:0000250}.
FT DISULFID 169 199 {ECO:0000250}.
FT DISULFID 174 200 {ECO:0000250}.
FT VAR_SEQ 66 70 VEPPQ -> LGRME (in isoform 2).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_045706.
FT VAR_SEQ 71 202 Missing (in isoform 2).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_045707.
FT VAR_SEQ 98 202 VESQSGSWGEWSEPLWCRGGAYLVAFSLRVEAPTTLGDNTA
FT ANNVRFRCSDGEELQGPGLSWGDFGDWSDHCPKGACGLQTK
FT IQGPRGLGDDTALNDARLFCCRS -> LGRME (in
FT isoform 3). {ECO:0000303|Ref.2}.
FT /FTId=VSP_045708.
FT VAR_SEQ 104 202 SWGEWSEPLWCRGGAYLVAFSLRVEAPTTLGDNTAANNVRF
FT RCSDGEELQGPGLSWGDFGDWSDHCPKGACGLQTKIQGPRG
FT LGDDTALNDARLFCCRS -> RWGAGVEDPLG (in
FT isoform 4). {ECO:0000303|Ref.4}.
FT /FTId=VSP_047219.
FT VARIANT 26 26 T -> A (in dbSNP:rs4790706).
FT {ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.2}.
FT /FTId=VAR_053736.
FT VARIANT 77 77 T -> S (in dbSNP:rs2279961).
FT /FTId=VAR_034584.
SQ SEQUENCE 202 AA; 21534 MW; 5C62A561693EE086 CRC64;
MERGAGAKLL PLLLLLRATG FTCAQTDGRN GYTAVIEVTS GGPWGDWAWP EMCPDGFFAS
GFSLKVEPPQ GIPGDDTALN GIRLHCARGN VLGNTHVVES QSGSWGEWSE PLWCRGGAYL
VAFSLRVEAP TTLGDNTAAN NVRFRCSDGE ELQGPGLSWG DFGDWSDHCP KGACGLQTKI
QGPRGLGDDT ALNDARLFCC RS
//
ID CDR2L_HUMAN Reviewed; 465 AA.
AC Q86X02; B4DFA7; Q15175;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-OCT-2007, sequence version 2.
DT 28-MAR-2018, entry version 98.
DE RecName: Full=Cerebellar degeneration-related protein 2-like;
DE AltName: Full=Paraneoplastic 62 kDa antigen;
GN Name=CDR2L; Synonyms=HUMPPA;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Fathallah-Shaykh H.M., Finizio J., Ho A., Rosenblum M., Posner J.;
RT "Cloning and characterization of a second leucine zipper protein
RT recognized by the sera of the patients with antibody associated
RT paraneoplastic cerebellar degeneration.";
RL Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-308, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18220336; DOI=10.1021/pr0705441;
RA Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D.,
RA Yates J.R. III;
RT "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for
RT efficient phosphoproteomic analysis.";
RL J. Proteome Res. 7:1346-1351(2008).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-318 AND SER-344, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- INTERACTION:
CC Q504U0:C4orf46; NbExp=4; IntAct=EBI-11063830, EBI-6657981;
CC Q01850:CDR2; NbExp=4; IntAct=EBI-11063830, EBI-1181367;
CC Q08426:EHHADH; NbExp=4; IntAct=EBI-11063830, EBI-2339219;
CC Q9NVQ4-2:FAIM; NbExp=4; IntAct=EBI-11063830, EBI-12039347;
CC O75031:HSF2BP; NbExp=4; IntAct=EBI-11063830, EBI-7116203;
CC Q15323:KRT31; NbExp=4; IntAct=EBI-11063830, EBI-948001;
CC O75558:STX11; NbExp=4; IntAct=EBI-11063830, EBI-714135;
CC P51504:ZNF80; NbExp=4; IntAct=EBI-11063830, EBI-12013828;
CC -!- SIMILARITY: Belongs to the CDR2 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAA91850.1; Type=Frameshift; Positions=10, 184, 268, 345; Evidence={ECO:0000305};
CC Sequence=AAH47534.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -----------------------------------------------------------------------
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CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; L02867; AAA91850.1; ALT_FRAME; mRNA.
DR EMBL; AK294006; BAG57368.1; -; mRNA.
DR EMBL; CH471099; EAW89224.1; -; Genomic_DNA.
DR EMBL; BC047534; AAH47534.1; ALT_INIT; mRNA.
DR CCDS; CCDS11710.2; -.
DR RefSeq; NP_055418.2; NM_014603.2.
DR UniGene; Hs.78358; -.
DR ProteinModelPortal; Q86X02; -.
DR SMR; Q86X02; -.
DR BioGrid; 119060; 5.
DR IntAct; Q86X02; 52.
DR STRING; 9606.ENSP00000336587; -.
DR iPTMnet; Q86X02; -.
DR PhosphoSitePlus; Q86X02; -.
DR BioMuta; CDR2L; -.
DR DMDM; 160017566; -.
DR EPD; Q86X02; -.
DR MaxQB; Q86X02; -.
DR PaxDb; Q86X02; -.
DR PeptideAtlas; Q86X02; -.
DR PRIDE; Q86X02; -.
DR DNASU; 30850; -.
DR Ensembl; ENST00000337231; ENSP00000336587; ENSG00000109089.
DR GeneID; 30850; -.
DR KEGG; hsa:30850; -.
DR UCSC; uc002jml.5; human.
DR CTD; 30850; -.
DR EuPathDB; HostDB:ENSG00000109089.7; -.
DR GeneCards; CDR2L; -.
DR H-InvDB; HIX0027174; -.
DR HGNC; HGNC:29999; CDR2L.
DR HPA; HPA022015; -.
DR neXtProt; NX_Q86X02; -.
DR OpenTargets; ENSG00000109089; -.
DR PharmGKB; PA142672137; -.
DR eggNOG; ENOG410IDY5; Eukaryota.
DR eggNOG; ENOG410XNUZ; LUCA.
DR GeneTree; ENSGT00390000018570; -.
DR HOGENOM; HOG000013160; -.
DR HOVERGEN; HBG006695; -.
DR InParanoid; Q86X02; -.
DR OMA; HANSVRK; -.
DR OrthoDB; EOG091G071C; -.
DR PhylomeDB; Q86X02; -.
DR TreeFam; TF326183; -.
DR ChiTaRS; CDR2L; human.
DR GenomeRNAi; 30850; -.
DR PRO; PR:Q86X02; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000109089; -.
DR CleanEx; HS_CDR2L; -.
DR ExpressionAtlas; Q86X02; baseline and differential.
DR Genevisible; Q86X02; HS.
DR InterPro; IPR026079; CDR2.
DR PANTHER; PTHR19232; PTHR19232; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Complete proteome; Phosphoprotein; Polymorphism;
KW Reference proteome.
FT CHAIN 1 465 Cerebellar degeneration-related protein
FT 2-like.
FT /FTId=PRO_0000307234.
FT COILED 38 143 {ECO:0000255}.
FT COILED 188 265 {ECO:0000255}.
FT COILED 350 377 {ECO:0000255}.
FT MOD_RES 308 308 Phosphoserine.
FT {ECO:0000244|PubMed:18220336}.
FT MOD_RES 318 318 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 344 344 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT VARIANT 300 300 D -> E (in dbSNP:rs36057512).
FT /FTId=VAR_035384.
FT CONFLICT 383 383 H -> D (in Ref. 1; AAA91850).
FT {ECO:0000305}.
SQ SEQUENCE 465 AA; 53010 MW; E9231122B2378B71 CRC64;
MRRAAGMEDF SAEEEESWYD QQDLEQDLHL AAELGKTLLE RNKELEGSLQ QMYSTNEEQV
QEIEYLTKQL DTLRHVNEQH AKVYEQLDLT ARDLELTNHR LVLESKAAQQ KIHGLTETIE
RLQAQVEELQ AQVEQLRGLE QLRVLREKRE RRRTIHTFPC LKELCTSPRC KDAFRLHSSS
LELGPRPLEQ ENERLQTLVG ALRSQVSQER QRKERAEREY TAVLQEYSEL ERQLCEMEAC
RLRVQELEAE LLELQQMKQA KTYLLGPDDH LAEALLAPLT QAPEADDPQP GRGDDLGAQD
GVSSPAASPG HVVRKSCSDT ALNAIVAKDP ASRHAGNLTL HANSVRKRGM SILREVDEQY
HALLEKYEEL LSKCRQHGAG VRHAGVQTSR PISRDSSWRD LRGGEEGQGE VKAGEKSLSQ
HVEAVDKRLE QSQPEYKALF KEIFSRIQKT KADINATKVK THSSK
//
ID CQ082_HUMAN Reviewed; 251 AA.
AC Q86X59;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 2.
DT 28-FEB-2018, entry version 87.
DE RecName: Full=Putative uncharacterized protein C17orf82;
GN Name=C17orf82;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT PRO-186.
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC Q12933:TRAF2; NbExp=5; IntAct=EBI-8465536, EBI-355744;
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DR EMBL; AC005746; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC046200; AAH46200.1; -; mRNA.
DR RefSeq; NP_982249.2; NM_203425.2.
DR UniGene; Hs.434459; -.
DR ProteinModelPortal; Q86X59; -.
DR SMR; Q86X59; -.
DR BioGrid; 132677; 7.
DR IntAct; Q86X59; 19.
DR MINT; Q86X59; -.
DR STRING; 9606.ENSP00000335229; -.
DR iPTMnet; Q86X59; -.
DR PhosphoSitePlus; Q86X59; -.
DR BioMuta; C17orf82; -.
DR PaxDb; Q86X59; -.
DR PRIDE; Q86X59; -.
DR DNASU; 388407; -.
DR GeneID; 388407; -.
DR KEGG; hsa:388407; -.
DR CTD; 388407; -.
DR GeneCards; C17orf82; -.
DR HGNC; HGNC:32699; C17orf82.
DR neXtProt; NX_Q86X59; -.
DR PharmGKB; PA145008807; -.
DR eggNOG; ENOG410KCBC; Eukaryota.
DR eggNOG; ENOG4110P51; LUCA.
DR GenomeRNAi; 388407; -.
DR PRO; PR:Q86X59; -.
DR Proteomes; UP000005640; Unplaced.
DR CleanEx; HS_C17orf82; -.
PE 1: Evidence at protein level;
KW Complete proteome; Polymorphism; Reference proteome.
FT CHAIN 1 251 Putative uncharacterized protein
FT C17orf82.
FT /FTId=PRO_0000284528.
FT VARIANT 186 186 L -> P (in dbSNP:rs9907379).
FT {ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_031769.
SQ SEQUENCE 251 AA; 25393 MW; 191ADB9061E330BF CRC64;
MGRPLEGQPL RALDLYPEPA FLRSGKDPKS SPASSPSFAV LGPEVRSTGG QAGSRRRPSA
PCSQDRAAAE GAPALLGGSP SSGSPGHPPG SAFGVEAGCR ALNVSEHARG GFALGLPFGL
SGGAYLFLLL DGAGDPKPTP EAPISSADGR AWFPSESSWQ LPQLPAGSTS GSEPRARPGL
GPRQLLTGPR DGAAGQGPGR GLTARLGRER EIDCGPRQAG HGGTATDTGR AGSGARHRPP
RDRGTPGLRT H
//
ID UBAD2_HUMAN Reviewed; 164 AA.
AC Q8IYN6;
DT 30-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 28-FEB-2018, entry version 105.
DE RecName: Full=UBA-like domain-containing protein 2;
GN Name=UBALD2; Synonyms=FAM100B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, and Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [2]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [3]
RP STRUCTURE BY NMR OF 1-59.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of the UBA domain in human protein FAM100B.";
RL Submitted (MAR-2007) to the PDB data bank.
CC -!- SIMILARITY: Belongs to the UBALD family. {ECO:0000305}.
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DR EMBL; BC035511; AAH35511.1; -; mRNA.
DR EMBL; BC060859; AAH60859.1; -; mRNA.
DR CCDS; CCDS11742.1; -.
DR RefSeq; NP_872371.1; NM_182565.3.
DR UniGene; Hs.744981; -.
DR PDB; 2DZL; NMR; -; A=1-59.
DR PDBsum; 2DZL; -.
DR ProteinModelPortal; Q8IYN6; -.
DR SMR; Q8IYN6; -.
DR iPTMnet; Q8IYN6; -.
DR PhosphoSitePlus; Q8IYN6; -.
DR BioMuta; UBALD2; -.
DR DMDM; 74728359; -.
DR PaxDb; Q8IYN6; -.
DR PeptideAtlas; Q8IYN6; -.
DR PRIDE; Q8IYN6; -.
DR DNASU; 283991; -.
DR Ensembl; ENST00000327490; ENSP00000331298; ENSG00000185262.
DR GeneID; 283991; -.
DR KEGG; hsa:283991; -.
DR UCSC; uc010wsy.2; human.
DR CTD; 283991; -.
DR EuPathDB; HostDB:ENSG00000185262.8; -.
DR GeneCards; UBALD2; -.
DR HGNC; HGNC:28438; UBALD2.
DR HPA; HPA023046; -.
DR neXtProt; NX_Q8IYN6; -.
DR OpenTargets; ENSG00000185262; -.
DR PharmGKB; PA142671783; -.
DR eggNOG; ENOG410J092; Eukaryota.
DR eggNOG; ENOG4111XJX; LUCA.
DR GeneTree; ENSGT00390000008825; -.
DR HOGENOM; HOG000231197; -.
DR HOVERGEN; HBG081490; -.
DR InParanoid; Q8IYN6; -.
DR OMA; HQAAWIP; -.
DR OrthoDB; EOG091G0ZYA; -.
DR PhylomeDB; Q8IYN6; -.
DR TreeFam; TF329433; -.
DR ChiTaRS; UBALD2; human.
DR EvolutionaryTrace; Q8IYN6; -.
DR GenomeRNAi; 283991; -.
DR PRO; PR:Q8IYN6; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000185262; -.
DR CleanEx; HS_FAM100B; -.
DR ExpressionAtlas; Q8IYN6; baseline and differential.
DR Genevisible; Q8IYN6; HS.
DR InterPro; IPR009060; UBA-like_sf.
DR SUPFAM; SSF46934; SSF46934; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Complete proteome; Reference proteome.
FT INIT_MET 1 1 Removed. {ECO:0000244|PubMed:22814378}.
FT CHAIN 2 164 UBA-like domain-containing protein 2.
FT /FTId=PRO_0000239028.
FT MOD_RES 2 2 N-acetylserine.
FT {ECO:0000244|PubMed:22814378}.
FT HELIX 6 21 {ECO:0000244|PDB:2DZL}.
FT HELIX 25 33 {ECO:0000244|PDB:2DZL}.
FT TURN 34 37 {ECO:0000244|PDB:2DZL}.
FT HELIX 39 47 {ECO:0000244|PDB:2DZL}.
SQ SEQUENCE 164 AA; 17877 MW; 3FF451ADFECBD558 CRC64;
MSVNMDELRH QVMINQFVLA AGCAADQAKQ LLQAAHWQFE TALSTFFQET NIPNSHHHHQ
MMCTPSNTPA TPPNFPDALA MFSKLRASEG LQSSNSPMTA AACSPPANFS PFWASSPPSH
QAPWIPPSSP TTFHHLHRPQ PTWPPGAQQG GAQQKAMAAM DGQR
//
ID SAM14_HUMAN Reviewed; 417 AA.
AC Q8IZD0; A5D8V1; Q8N2X0;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 22-NOV-2017, entry version 100.
DE RecName: Full=Sterile alpha motif domain-containing protein 14;
DE Short=SAM domain-containing protein 14;
GN Name=SAMD14;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RA Guo J.H., Yu L.;
RL Submitted (SEP-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IZD0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IZD0-2; Sequence=VSP_020659;
CC Note=No experimental confirmation available.;
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DR EMBL; AY148482; AAN71008.1; -; mRNA.
DR EMBL; AK094209; BAG52844.1; -; mRNA.
DR EMBL; CH471109; EAW94641.1; -; Genomic_DNA.
DR EMBL; BC029872; AAH29872.1; -; mRNA.
DR EMBL; BC136485; AAI36486.1; -; mRNA.
DR EMBL; BC141822; AAI41823.1; -; mRNA.
DR EMBL; BC142728; AAI42729.1; -; mRNA.
DR CCDS; CCDS11560.1; -. [Q8IZD0-2]
DR CCDS; CCDS58562.1; -. [Q8IZD0-1]
DR RefSeq; NP_001244288.1; NM_001257359.1. [Q8IZD0-1]
DR RefSeq; NP_777580.1; NM_174920.3. [Q8IZD0-2]
DR RefSeq; XP_016879812.1; XM_017024323.1. [Q8IZD0-1]
DR RefSeq; XP_016879813.1; XM_017024324.1. [Q8IZD0-2]
DR UniGene; Hs.567769; -.
DR ProteinModelPortal; Q8IZD0; -.
DR SMR; Q8IZD0; -.
DR iPTMnet; Q8IZD0; -.
DR PhosphoSitePlus; Q8IZD0; -.
DR BioMuta; SAMD14; -.
DR DMDM; 115502829; -.
DR PeptideAtlas; Q8IZD0; -.
DR PRIDE; Q8IZD0; -.
DR Ensembl; ENST00000330175; ENSP00000329144; ENSG00000167100. [Q8IZD0-1]
DR Ensembl; ENST00000503131; ENSP00000424474; ENSG00000167100. [Q8IZD0-2]
DR GeneID; 201191; -.
DR KEGG; hsa:201191; -.
DR UCSC; uc002iqf.5; human. [Q8IZD0-1]
DR CTD; 201191; -.
DR DisGeNET; 201191; -.
DR EuPathDB; HostDB:ENSG00000167100.14; -.
DR GeneCards; SAMD14; -.
DR HGNC; HGNC:27312; SAMD14.
DR HPA; HPA051916; -.
DR neXtProt; NX_Q8IZD0; -.
DR OpenTargets; ENSG00000167100; -.
DR PharmGKB; PA142670953; -.
DR GeneTree; ENSGT00390000010033; -.
DR HOVERGEN; HBG093931; -.
DR InParanoid; Q8IZD0; -.
DR OMA; QWLESLN; -.
DR OrthoDB; EOG091G0MB9; -.
DR PhylomeDB; Q8IZD0; -.
DR TreeFam; TF331870; -.
DR ChiTaRS; SAMD14; human.
DR GenomeRNAi; 201191; -.
DR PRO; PR:Q8IZD0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000167100; -.
DR CleanEx; HS_SAMD14; -.
DR ExpressionAtlas; Q8IZD0; baseline and differential.
DR Genevisible; Q8IZD0; HS.
DR InterPro; IPR001660; SAM.
DR InterPro; IPR013761; SAM/pointed_sf.
DR Pfam; PF07647; SAM_2; 1.
DR SMART; SM00454; SAM; 1.
DR SUPFAM; SSF47769; SSF47769; 1.
DR PROSITE; PS50105; SAM_DOMAIN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Complete proteome; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1 417 Sterile alpha motif domain-containing
FT protein 14.
FT /FTId=PRO_0000250563.
FT DOMAIN 326 389 SAM. {ECO:0000255|PROSITE-
FT ProRule:PRU00184}.
FT COILED 377 417 {ECO:0000255}.
FT MOD_RES 84 84 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8K070}.
FT MOD_RES 108 108 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8K070}.
FT MOD_RES 173 173 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8K070}.
FT MOD_RES 179 179 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q5BJU3}.
FT MOD_RES 279 279 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8K070}.
FT MOD_RES 283 283 Phosphothreonine.
FT {ECO:0000250|UniProtKB:Q8K070}.
FT VAR_SEQ 274 274 Q -> QAQLLAHAQEALSNSWCLVQDFGSTQIGM (in
FT isoform 2). {ECO:0000303|Ref.1}.
FT /FTId=VSP_020659.
SQ SEQUENCE 417 AA; 45056 MW; AC180362D67F4400 CRC64;
MASSKLREPV DEVFDLDLAV PETARLDSSL HKARAQLLAK GRRHRPSRSR LRDSASSAED
GEGSDGPGGK VTDGCGSPLH RLRSPLHSGP GSPAGGSFCL DPPGLRRSLD EDEPPPSPLT
RYRPLHNAAS HEGLAAASCS PPRSAPSSDS SPSFVRRHPR AEPHSEDDSR DASPPEPASP
TIGLDKKTRR KFLDLGVTLR RASTGKSRKE KGSNRLSMGS RESVEGSGRS GGSPFLPFSW
FTDSGKGSAS SGSTTSPTCS PKHEGFSPKK SASQESTLSD DSTPPSSSPK IPSGPWQEAK
CSYPYHTLSQ SSDEFLDEPL PPVHHWTSQQ VGQWLQSLNL EQYAAEFAAR QVDGPQLLQL
DGSKLKSLGL SNSHDRALVK RKLKEMAAAA EKERKAQEKA ARQREKLRRR EQEAKKS
//
ID TM256_HUMAN Reviewed; 113 AA.
AC Q8N2U0;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 28-MAR-2018, entry version 107.
DE RecName: Full=Transmembrane protein 256;
DE Flags: Precursor;
GN Name=TMEM256; Synonyms=C17orf61;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Mammary gland;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the TMEM256 family. {ECO:0000305}.
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DR EMBL; BC030270; AAH30270.1; -; mRNA.
DR CCDS; CCDS11102.1; -.
DR RefSeq; NP_689979.1; NM_152766.3.
DR UniGene; Hs.730789; -.
DR ProteinModelPortal; Q8N2U0; -.
DR BioGrid; 129054; 13.
DR IntAct; Q8N2U0; 10.
DR STRING; 9606.ENSP00000301939; -.
DR iPTMnet; Q8N2U0; -.
DR PhosphoSitePlus; Q8N2U0; -.
DR BioMuta; TMEM256; -.
DR DMDM; 74728725; -.
DR EPD; Q8N2U0; -.
DR MaxQB; Q8N2U0; -.
DR PaxDb; Q8N2U0; -.
DR PeptideAtlas; Q8N2U0; -.
DR PRIDE; Q8N2U0; -.
DR TopDownProteomics; Q8N2U0; -.
DR Ensembl; ENST00000302422; ENSP00000301939; ENSG00000205544.
DR Ensembl; ENST00000639136; ENSP00000491711; ENSG00000283771.
DR GeneID; 254863; -.
DR KEGG; hsa:254863; -.
DR UCSC; uc002ggs.4; human.
DR CTD; 254863; -.
DR EuPathDB; HostDB:ENSG00000205544.3; -.
DR GeneCards; TMEM256; -.
DR HGNC; HGNC:28618; TMEM256.
DR HPA; HPA062732; -.
DR MIM; 617779; gene.
DR neXtProt; NX_Q8N2U0; -.
DR OpenTargets; ENSG00000205544; -.
DR PharmGKB; PA142672244; -.
DR eggNOG; KOG3472; Eukaryota.
DR eggNOG; ENOG41125SJ; LUCA.
DR GeneTree; ENSGT00390000000334; -.
DR HOGENOM; HOG000252654; -.
DR HOVERGEN; HBG095157; -.
DR InParanoid; Q8N2U0; -.
DR OMA; PSTKYPN; -.
DR OrthoDB; EOG091G16GE; -.
DR PhylomeDB; Q8N2U0; -.
DR TreeFam; TF300271; -.
DR ChiTaRS; TMEM256; human.
DR GenomeRNAi; 254863; -.
DR PRO; PR:Q8N2U0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000205544; -.
DR CleanEx; HS_C17orf61; -.
DR ExpressionAtlas; Q8N2U0; baseline and differential.
DR Genevisible; Q8N2U0; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR006696; DUF423.
DR PANTHER; PTHR43461; PTHR43461; 1.
DR Pfam; PF04241; DUF423; 1.
PE 3: Inferred from homology;
KW Acetylation; Complete proteome; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1 29 {ECO:0000255}.
FT CHAIN 30 113 Transmembrane protein 256.
FT /FTId=PRO_0000287170.
FT TOPO_DOM 30 63 Extracellular. {ECO:0000255}.
FT TRANSMEM 64 84 Helical. {ECO:0000255}.
FT TOPO_DOM 85 92 Cytoplasmic. {ECO:0000255}.
FT TRANSMEM 93 113 Helical. {ECO:0000255}.
FT MOD_RES 43 43 N6-acetyllysine.
FT {ECO:0000250|UniProtKB:Q5F285}.
SQ SEQUENCE 113 AA; 11742 MW; 3184A3767F5ABB0E CRC64;
MAGPAAAFRR LGALSGAAAL GFASYGAHGA QFPDAYGKEL FDKANKHHFL HSLALLGVPH
CRKPLWAGLL LASGTTLFCT SFYYQALSGD PSIQTLAPAG GTLLLLGWLA LAL
//
ID CQ053_HUMAN Reviewed; 647 AA.
AC Q8N3J3; A8K7A9; Q9BWM9; Q9HAI1;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 28-MAR-2018, entry version 103.
DE RecName: Full=Uncharacterized protein C17orf53;
GN Name=C17orf53;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
RC TISSUE=Embryo, and Neuroepithelioma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT
RP PRO-126.
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-47, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-285; ARG-295; ARG-329 AND
RP ARG-337, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Colon carcinoma;
RX PubMed=24129315; DOI=10.1074/mcp.O113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V.,
RA Aguiar M., Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C.,
RA Vemulapalli V., Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
CC -!- INTERACTION:
CC P32464:HYM1 (xeno); NbExp=3; IntAct=EBI-11061081, EBI-8859;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8N3J3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N3J3-2; Sequence=VSP_025651, VSP_025652;
CC Note=No experimental confirmation available.;
CC Name=3;
CC IsoId=Q8N3J3-3; Sequence=VSP_025653, VSP_025654, VSP_025655;
CC Note=No experimental confirmation available.;
CC Name=4;
CC IsoId=Q8N3J3-4; Sequence=VSP_047077;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
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DR EMBL; AK291924; BAF84613.1; -; mRNA.
DR EMBL; AK021656; BAB13867.1; -; mRNA.
DR EMBL; AL834295; CAD38968.1; -; mRNA.
DR EMBL; AC004596; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000121; AAH00121.1; -; mRNA.
DR CCDS; CCDS11477.1; -. [Q8N3J3-1]
DR CCDS; CCDS59293.1; -. [Q8N3J3-4]
DR CCDS; CCDS82136.1; -. [Q8N3J3-3]
DR RefSeq; NP_001164722.1; NM_001171251.2. [Q8N3J3-4]
DR RefSeq; NP_001308239.1; NM_001321310.1. [Q8N3J3-3]
DR RefSeq; NP_001308240.1; NM_001321311.1.
DR RefSeq; NP_076937.2; NM_024032.4. [Q8N3J3-1]
DR UniGene; Hs.437059; -.
DR ProteinModelPortal; Q8N3J3; -.
DR BioGrid; 122466; 9.
DR IntAct; Q8N3J3; 7.
DR MINT; Q8N3J3; -.
DR STRING; 9606.ENSP00000313500; -.
DR iPTMnet; Q8N3J3; -.
DR PhosphoSitePlus; Q8N3J3; -.
DR BioMuta; C17orf53; -.
DR DMDM; 74714855; -.
DR EPD; Q8N3J3; -.
DR MaxQB; Q8N3J3; -.
DR PaxDb; Q8N3J3; -.
DR PeptideAtlas; Q8N3J3; -.
DR PRIDE; Q8N3J3; -.
DR DNASU; 78995; -.
DR Ensembl; ENST00000245382; ENSP00000245382; ENSG00000125319. [Q8N3J3-3]
DR Ensembl; ENST00000319977; ENSP00000313500; ENSG00000125319. [Q8N3J3-1]
DR Ensembl; ENST00000585683; ENSP00000466618; ENSG00000125319. [Q8N3J3-4]
DR GeneID; 78995; -.
DR KEGG; hsa:78995; -.
DR UCSC; uc002ifi.2; human. [Q8N3J3-1]
DR CTD; 78995; -.
DR EuPathDB; HostDB:ENSG00000125319.14; -.
DR GeneCards; C17orf53; -.
DR H-InvDB; HIX0013875; -.
DR HGNC; HGNC:28460; C17orf53.
DR HPA; HPA023004; -.
DR HPA; HPA023393; -.
DR HPA; HPA024430; -.
DR neXtProt; NX_Q8N3J3; -.
DR OpenTargets; ENSG00000125319; -.
DR PharmGKB; PA142672236; -.
DR eggNOG; ENOG410IFHD; Eukaryota.
DR eggNOG; ENOG4111NPV; LUCA.
DR GeneTree; ENSGT00400000022305; -.
DR HOGENOM; HOG000111931; -.
DR HOVERGEN; HBG099865; -.
DR InParanoid; Q8N3J3; -.
DR OMA; PNNLVHI; -.
DR OrthoDB; EOG091G0GYK; -.
DR PhylomeDB; Q8N3J3; -.
DR TreeFam; TF331108; -.
DR GenomeRNAi; 78995; -.
DR PRO; PR:Q8N3J3; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000125319; -.
DR CleanEx; HS_C17orf53; -.
DR Genevisible; Q8N3J3; HS.
DR InterPro; IPR028045; DUF4539.
DR Pfam; PF15072; DUF4539; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Methylation; Phosphoprotein;
KW Polymorphism; Reference proteome.
FT CHAIN 1 647 Uncharacterized protein C17orf53.
FT /FTId=PRO_0000288092.
FT MOD_RES 47 47 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 285 285 Asymmetric dimethylarginine.
FT {ECO:0000244|PubMed:24129315}.
FT MOD_RES 295 295 Asymmetric dimethylarginine.
FT {ECO:0000244|PubMed:24129315}.
FT MOD_RES 329 329 Asymmetric dimethylarginine.
FT {ECO:0000244|PubMed:24129315}.
FT MOD_RES 337 337 Asymmetric dimethylarginine.
FT {ECO:0000244|PubMed:24129315}.
FT VAR_SEQ 108 137 SSWIGNQRRVTVTEVLRETARPQSSALHPL -> NCLNSSH
FT SATPLGSLSATLHCSSTSASPSC (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_025651.
FT VAR_SEQ 138 647 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_025652.
FT VAR_SEQ 409 484 Missing (in isoform 3).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_025653.
FT VAR_SEQ 484 484 Missing (in isoform 4).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_047077.
FT VAR_SEQ 592 597 DSGSFQ -> MTWMDS (in isoform 3).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_025654.
FT VAR_SEQ 598 647 Missing (in isoform 3).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_025655.
FT VARIANT 126 126 T -> P (in dbSNP:rs227584).
FT {ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_032393.
SQ SEQUENCE 647 AA; 69771 MW; 087F0413951BCD43 CRC64;
MACSLQKLFA VEEEFEDEDF LSAVEDAENR FTGSLPVNAG RLRPVSSRPQ ETVQAQSSRL
LLLHPTAPSE ALGLPDLDLC LPASSTPSAD SRPSCIGAAP LRPVSTSSSW IGNQRRVTVT
EVLRETARPQ SSALHPLLTF ESQQQQVGGF EGPEQDEFDK VLASMELEEP GMELECGVSS
EAIPILPAQQ REGSVLAKKA RVVDLSGSCQ KGPVPAIHKA GIMSAQDESL DPVIQCRTPR
PPLRPGAVGH LPVPTALTVP TQQLHWEVCP QRSPVQALQP LQAARGTIQS SPQNRFPCQP
FQSPSSWLSG KAHLPRPRTP NSSCSTPSRT SSGLFPRIPL QPQAPVSSIG SPVGTPKGPQ
GALQTPIVTN HLVQLVTAAS RTPQQPTHPS TRAKTRRFPG PAGILPHQQS GRSLEDIMVS
APQTPTHGAL AKFQTEIVAS SQASVEEDFG RGPWLTMKST LGLDERDPSC FLCTYSIVMV
LRKQAALKQL PRNKVPNMAV MIKSLTRSTM DASVVFKDPT GEMQGTVHRL LLETCQNELK
PGSVLLLKQI GVFSPSLRNH YLNVTPNNLV HIYSPDSGDG SFLKPSQPFP KDSGSFQHDV
AAKPEEGFRT AQNLEAEASP EEELPEADDL DGLLSELPED FFCGTSS
//
ID NATD1_HUMAN Reviewed; 113 AA.
AC Q8N6N6; A8MWQ7; B3KX70;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 23-SEP-2008, sequence version 2.
DT 28-FEB-2018, entry version 95.
DE RecName: Full=Protein NATD1;
DE AltName: Full=N-acetyltransferase domain-containing protein 1;
GN Name=NATD1; Synonyms=C17orf103, GTLF3B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC Q6UY14-3:ADAMTSL4; NbExp=5; IntAct=EBI-8656665, EBI-10173507;
CC Q9UKT9:IKZF3; NbExp=3; IntAct=EBI-8656665, EBI-747204;
CC Q9GZT8:NIF3L1; NbExp=5; IntAct=EBI-8656665, EBI-740897;
CC Q12933:TRAF2; NbExp=3; IntAct=EBI-8656665, EBI-355744;
CC -!- SIMILARITY: Belongs to the NATD1 family. {ECO:0000305}.
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DR EMBL; AK126856; BAG54382.1; -; mRNA.
DR EMBL; AC087294; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029527; AAH29527.1; -; mRNA.
DR RefSeq; NP_690878.2; NM_152914.2.
DR UniGene; Hs.654713; -.
DR ProteinModelPortal; Q8N6N6; -.
DR BioGrid; 129155; 4.
DR IntAct; Q8N6N6; 9.
DR MINT; Q8N6N6; -.
DR STRING; 9606.ENSP00000454565; -.
DR iPTMnet; Q8N6N6; -.
DR PhosphoSitePlus; Q8N6N6; -.
DR BioMuta; GTLF3B; -.
DR DMDM; 206729869; -.
DR EPD; Q8N6N6; -.
DR MaxQB; Q8N6N6; -.
DR PaxDb; Q8N6N6; -.
DR PeptideAtlas; Q8N6N6; -.
DR PRIDE; Q8N6N6; -.
DR DNASU; 256302; -.
DR Ensembl; ENST00000611551; ENSP00000478388; ENSG00000274180.
DR GeneID; 256302; -.
DR KEGG; hsa:256302; -.
DR UCSC; uc032exx.2; human.
DR CTD; 256302; -.
DR EuPathDB; HostDB:ENSG00000274180.1; -.
DR GeneCards; NATD1; -.
DR HGNC; HGNC:30770; NATD1.
DR neXtProt; NX_Q8N6N6; -.
DR OpenTargets; ENSG00000274180; -.
DR PharmGKB; PA164716941; -.
DR eggNOG; ENOG410IZHM; Eukaryota.
DR eggNOG; ENOG41127NZ; LUCA.
DR GeneTree; ENSGT00390000014840; -.
DR HOVERGEN; HBG055172; -.
DR InParanoid; Q8N6N6; -.
DR KO; K06975; -.
DR OMA; QASCWYV; -.
DR OrthoDB; EOG091G1A7R; -.
DR PhylomeDB; Q8N6N6; -.
DR ChiTaRS; NATD1; human.
DR GenomeRNAi; 256302; -.
DR PRO; PR:Q8N6N6; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000274180; -.
DR Genevisible; Q8N6N6; HS.
DR InterPro; IPR016181; Acyl_CoA_acyltransferase.
DR InterPro; IPR031165; GNAT_YJDJ.
DR Pfam; PF14542; Acetyltransf_CG; 1.
DR SUPFAM; SSF55729; SSF55729; 1.
DR PROSITE; PS51729; GNAT_YJDJ; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Polymorphism; Reference proteome.
FT CHAIN 1 113 Protein NATD1.
FT /FTId=PRO_0000320656.
FT DOMAIN 22 112 N-acetyltransferase.
FT {ECO:0000255|PROSITE-ProRule:PRU00532}.
FT VARIANT 42 42 V -> I (in dbSNP:rs12449311).
FT /FTId=VAR_062227.
FT CONFLICT 65 65 R -> S (in Ref. 3; AAH29527).
FT {ECO:0000305}.
SQ SEQUENCE 113 AA; 13032 MW; 0FCD9E0D48885379 CRC64;
MAHSAAAVPL GALEQGCPIR VEHDRRRRQF TVRLNGCHDR AVLLYEYVGK RIVDLQHTEV
PDAYRGRGIA KHLAKAALDF VVEEDLKAHL TCWYIQKYVK ENPLPQYLER LQP
//
ID EFCB3_HUMAN Reviewed; 438 AA.
AC Q8N7B9; J3KQM8;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 28-FEB-2018, entry version 119.
DE RecName: Full=EF-hand calcium-binding domain-containing protein 3;
GN Name=EFCAB3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N7B9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N7B9-2; Sequence=VSP_047183;
CC Note=No experimental confirmation available. Gene prediction
CC based on EST data.;
CC -----------------------------------------------------------------------
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CC Distributed under the Creative Commons Attribution-NoDerivs License
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DR EMBL; AK098684; BAC05376.1; -; mRNA.
DR EMBL; AC008026; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC101752; AAI01753.1; -; mRNA.
DR EMBL; BC101778; AAI01779.1; -; mRNA.
DR CCDS; CCDS11632.1; -. [Q8N7B9-1]
DR CCDS; CCDS45751.1; -. [Q8N7B9-2]
DR RefSeq; NP_001138405.1; NM_001144933.1. [Q8N7B9-2]
DR RefSeq; NP_775774.1; NM_173503.3. [Q8N7B9-1]
DR RefSeq; XP_011522682.1; XM_011524380.1. [Q8N7B9-1]
DR RefSeq; XP_011522683.1; XM_011524381.1. [Q8N7B9-1]
DR UniGene; Hs.152670; -.
DR ProteinModelPortal; Q8N7B9; -.
DR SMR; Q8N7B9; -.
DR BioGrid; 127010; 1.
DR IntAct; Q8N7B9; 8.
DR STRING; 9606.ENSP00000403932; -.
DR iPTMnet; Q8N7B9; -.
DR PhosphoSitePlus; Q8N7B9; -.
DR BioMuta; EFCAB3; -.
DR DMDM; 74759977; -.
DR PaxDb; Q8N7B9; -.
DR PeptideAtlas; Q8N7B9; -.
DR PRIDE; Q8N7B9; -.
DR Ensembl; ENST00000305286; ENSP00000302649; ENSG00000172421. [Q8N7B9-1]
DR Ensembl; ENST00000450662; ENSP00000403932; ENSG00000172421. [Q8N7B9-2]
DR GeneID; 146779; -.
DR KEGG; hsa:146779; -.
DR UCSC; uc002izu.3; human. [Q8N7B9-1]
DR CTD; 146779; -.
DR DisGeNET; 146779; -.
DR EuPathDB; HostDB:ENSG00000172421.7; -.
DR GeneCards; EFCAB3; -.
DR HGNC; HGNC:26379; EFCAB3.
DR HPA; HPA046862; -.
DR neXtProt; NX_Q8N7B9; -.
DR OpenTargets; ENSG00000172421; -.
DR PharmGKB; PA143485451; -.
DR eggNOG; KOG0027; Eukaryota.
DR eggNOG; COG5126; LUCA.
DR GeneTree; ENSGT00530000063748; -.
DR HOGENOM; HOG000049157; -.
DR HOVERGEN; HBG079564; -.
DR InParanoid; Q8N7B9; -.
DR OMA; IALEHRK; -.
DR OrthoDB; EOG091G08U6; -.
DR PhylomeDB; Q8N7B9; -.
DR TreeFam; TF328393; -.
DR ChiTaRS; EFCAB3; human.
DR GenomeRNAi; 146779; -.
DR PRO; PR:Q8N7B9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000172421; -.
DR CleanEx; HS_EFCAB3; -.
DR ExpressionAtlas; Q8N7B9; baseline and differential.
DR Genevisible; Q8N7B9; HS.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR Pfam; PF13833; EF-hand_8; 1.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS00018; EF_HAND_1; 1.
DR PROSITE; PS50222; EF_HAND_2; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Complete proteome; Metal-binding;
KW Phosphoprotein; Polymorphism; Reference proteome; Repeat.
FT CHAIN 1 438 EF-hand calcium-binding domain-containing
FT protein 3.
FT /FTId=PRO_0000253547.
FT DOMAIN 47 82 EF-hand 1. {ECO:0000255|PROSITE-
FT ProRule:PRU00448}.
FT DOMAIN 83 118 EF-hand 2. {ECO:0000255|PROSITE-
FT ProRule:PRU00448}.
FT CA_BIND 96 107 1. {ECO:0000255|PROSITE-
FT ProRule:PRU00448}.
FT MOD_RES 279 279 Phosphotyrosine.
FT {ECO:0000250|UniProtKB:Q66HC0}.
FT VAR_SEQ 1 1 M -> MKELMPHLTFNGNGKINVNSIMEGLKKFKPKGMVTL
FT HKLKTANDIKDRVTGHM (in isoform 2).
FT {ECO:0000305}.
FT /FTId=VSP_047183.
FT VARIANT 341 341 G -> R (in dbSNP:rs12602985).
FT /FTId=VAR_028377.
FT VARIANT 364 364 M -> I (in dbSNP:rs1056642).
FT /FTId=VAR_028378.
FT VARIANT 370 370 S -> A (in dbSNP:rs1056643).
FT /FTId=VAR_028379.
SQ SEQUENCE 438 AA; 50147 MW; 5B3FC3028F44B325 CRC64;
MAVSEIKPKL KLNPLTKVPI SHNKRDRDLP GSLQCQLQHK EKKLSASQMA AFQDAYNFFY
KDKTGCIDFH GLMCTVAKLG MNLTKHDVYN ELKCADIDRD GKVNFSDFIK VLTDKNLFLK
AVVPEKETCL DLAGNPGILL FEILSRLLET SALPRKSIIE IVSYFQRKFQ HTGPGMLWSP
YTMGYGKRTL KPDICTPPSS SMAAFANAAR IAIMKEKDLF KFLEELKRCN SGSDSPYSKI
PIFPLFPNVD GVVMGKPFKD MQKLEMLRIK EPLHFFEDYF FHKRDWKTQA ANIKSMDPAS
GYSNNIFTID QMLKKKQTCT VADATAIKQH VKRATDTYNL GIALEHRKEM LNLWQKIRGD
LIGMDSRNES FYDTFSTYTW SWNVCQELLS PKDLRLYDAY VNRNSSHNSR SSSSSDTSEC
YTDSGRKRKR KGLKGFQQ
//
ID LR75A_HUMAN Reviewed; 344 AA.
AC Q8NAA5;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 15-MAY-2007, sequence version 2.
DT 28-FEB-2018, entry version 103.
DE RecName: Full=Leucine-rich repeat-containing protein 75A;
DE AltName: Full=Leucine-rich repeat-containing protein FAM211A;
GN Name=LRRC75A; Synonyms=C17orf76, FAM211A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 48-344 (ISOFORM 2).
RC TISSUE=Spleen;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NAA5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NAA5-2; Sequence=VSP_025134, VSP_025135;
CC -!- SIMILARITY: Belongs to the LRRC75 family. {ECO:0000305}.
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DR EMBL; AC127540; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093484; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK093015; BAC04020.1; -; mRNA.
DR CCDS; CCDS11178.2; -. [Q8NAA5-2]
DR CCDS; CCDS45620.1; -. [Q8NAA5-1]
DR RefSeq; NP_001107039.1; NM_001113567.2. [Q8NAA5-1]
DR RefSeq; NP_997270.2; NM_207387.3. [Q8NAA5-2]
DR UniGene; Hs.25425; -.
DR UniGene; Hs.742609; -.
DR ProteinModelPortal; Q8NAA5; -.
DR STRING; 9606.ENSP00000419502; -.
DR iPTMnet; Q8NAA5; -.
DR PhosphoSitePlus; Q8NAA5; -.
DR BioMuta; FAM211A; -.
DR DMDM; 147640319; -.
DR MaxQB; Q8NAA5; -.
DR PaxDb; Q8NAA5; -.
DR PeptideAtlas; Q8NAA5; -.
DR PRIDE; Q8NAA5; -.
DR Ensembl; ENST00000409083; ENSP00000386504; ENSG00000181350. [Q8NAA5-2]
DR Ensembl; ENST00000470794; ENSP00000419502; ENSG00000181350. [Q8NAA5-1]
DR GeneID; 388341; -.
DR KEGG; hsa:388341; -.
DR UCSC; uc002gqh.4; human. [Q8NAA5-1]
DR CTD; 388341; -.
DR DisGeNET; 388341; -.
DR EuPathDB; HostDB:ENSG00000181350.11; -.
DR GeneCards; LRRC75A; -.
DR HGNC; HGNC:32403; LRRC75A.
DR HPA; HPA028528; -.
DR neXtProt; NX_Q8NAA5; -.
DR OpenTargets; ENSG00000181350; -.
DR PharmGKB; PA143485400; -.
DR eggNOG; ENOG410IK8Q; Eukaryota.
DR eggNOG; ENOG410Z0F1; LUCA.
DR GeneTree; ENSGT00390000004841; -.
DR HOGENOM; HOG000111942; -.
DR HOVERGEN; HBG066484; -.
DR InParanoid; Q8NAA5; -.
DR OMA; FPSVTWI; -.
DR OrthoDB; EOG091G0JK8; -.
DR PhylomeDB; Q8NAA5; -.
DR TreeFam; TF332831; -.
DR ChiTaRS; LRRC75A; human.
DR GenomeRNAi; 388341; -.
DR PRO; PR:Q8NAA5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000181350; -.
DR CleanEx; HS_C17orf76; -.
DR Genevisible; Q8NAA5; HS.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR032675; LRR_dom_sf.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Leucine-rich repeat;
KW Reference proteome; Repeat.
FT CHAIN 1 344 Leucine-rich repeat-containing protein
FT 75A.
FT /FTId=PRO_0000286624.
FT REPEAT 204 217 LRR 1.
FT REPEAT 229 242 LRR 2.
FT VAR_SEQ 126 212 EGDALGAMEKLCRQLTYHLSPHSQWRRHRGLVKRKPQACLK
FT AVLAGSPPDNTVDLSGIPLTSRDLERVTSYLQRCGEQVDSV
FT ELGFT -> PQGCPGRKPPRQHSGPVGNPTDLPRPGAGDQL
FT PTALWGAGRQRGAGLHRPHGRHGPAAAASTQHPAPPHHTGT
FT QWQPVDPGRAARPH (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_025134.
FT VAR_SEQ 213 344 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_025135.
SQ SEQUENCE 344 AA; 37780 MW; E76D268A6D393A0C CRC64;
MGTRQTKGSL AERASPGAAP GPRRERPDFW ASLLLRAGDK AGRAGAGMPP YHRRVGMVQE
LLRMVRQGRR EEAGTLLQHL RQDLGMESTS LDDVLYRYAS FRNLVDPITH DLIISLARYI
HCPKPEGDAL GAMEKLCRQL TYHLSPHSQW RRHRGLVKRK PQACLKAVLA GSPPDNTVDL
SGIPLTSRDL ERVTSYLQRC GEQVDSVELG FTGLTDDMVL QLLPALSTLP RLTTLALNGN
RLTRAVLRDL TDILKDPSKF PNVTWIDLGN NVDIFSLPQP FLLSLRKRSP KQGHLPTILE
LGEGPGSGEE VREGTVGQED PGGGPVAPAE DHHEGKETVA AAQT
//
ID CQ047_HUMAN Reviewed; 570 AA.
AC Q8NEP4; Q8N821;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-JUL-2010, sequence version 3.
DT 31-JAN-2018, entry version 94.
DE RecName: Full=Uncharacterized protein C17orf47;
GN Name=C17orf47;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-88.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-88.
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
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DR EMBL; AK097440; BAC05054.1; -; mRNA.
DR EMBL; BC022189; AAH22189.2; -; mRNA.
DR CCDS; CCDS32691.1; -.
DR RefSeq; NP_001033793.2; NM_001038704.2.
DR UniGene; Hs.646574; -.
DR ProteinModelPortal; Q8NEP4; -.
DR IntAct; Q8NEP4; 2.
DR STRING; 9606.ENSP00000354874; -.
DR iPTMnet; Q8NEP4; -.
DR PhosphoSitePlus; Q8NEP4; -.
DR BioMuta; C17orf47; -.
DR DMDM; 300669697; -.
DR PaxDb; Q8NEP4; -.
DR PeptideAtlas; Q8NEP4; -.
DR PRIDE; Q8NEP4; -.
DR DNASU; 284083; -.
DR Ensembl; ENST00000321691; ENSP00000354874; ENSG00000181013.
DR GeneID; 284083; -.
DR KEGG; hsa:284083; -.
DR UCSC; uc002iwq.3; human.
DR CTD; 284083; -.
DR EuPathDB; HostDB:ENSG00000181013.3; -.
DR GeneCards; C17orf47; -.
DR H-InvDB; HIX0014035; -.
DR HGNC; HGNC:26844; C17orf47.
DR HPA; HPA028424; -.
DR neXtProt; NX_Q8NEP4; -.
DR OpenTargets; ENSG00000181013; -.
DR PharmGKB; PA142672230; -.
DR eggNOG; ENOG410II9Q; Eukaryota.
DR eggNOG; ENOG41114NK; LUCA.
DR GeneTree; ENSGT00390000018146; -.
DR HOGENOM; HOG000059265; -.
DR HOVERGEN; HBG098211; -.
DR InParanoid; Q8NEP4; -.
DR OMA; SSPFCED; -.
DR OrthoDB; EOG091G09FD; -.
DR PhylomeDB; Q8NEP4; -.
DR TreeFam; TF338016; -.
DR GenomeRNAi; 284083; -.
DR PRO; PR:Q8NEP4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000181013; -.
DR CleanEx; HS_C17orf47; -.
DR Genevisible; Q8NEP4; HS.
DR InterPro; IPR027979; DUF4655.
DR PANTHER; PTHR37884; PTHR37884; 1.
DR Pfam; PF15548; DUF4655; 1.
PE 2: Evidence at transcript level;
KW Complete proteome; Polymorphism; Reference proteome.
FT CHAIN 1 570 Uncharacterized protein C17orf47.
FT /FTId=PRO_0000286565.
FT VARIANT 88 88 P -> T (in dbSNP:rs8071623).
FT {ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_032122.
FT VARIANT 461 461 G -> S (in dbSNP:rs17822735).
FT /FTId=VAR_032123.
FT VARIANT 546 546 C -> G (in dbSNP:rs16943091).
FT /FTId=VAR_032124.
FT CONFLICT 187 187 V -> A (in Ref. 1; BAC05054).
FT {ECO:0000305}.
SQ SEQUENCE 570 AA; 63111 MW; 9F969B747A509359 CRC64;
MVKTNKPGAK VAVSAQRGSE VTTNTSPQQG HGYVLASSHR SAAVSLNPSH RRSEAAHPTT
PHSASDYPRS VSLQSGPGHY AVPTPRGPET GPRTESSRHS SPHLKSQKTQ TLASHASSRQ
WKVSPPREEA ARRGSESKSG REVGHHASSI PDAKSTHQLS FQDQKNNLQS QILEDDPPSK
VQNPQGVRVP RRILSYPKDE AVQTEPIQRI TTTSEIRSPR SPSLLEHGSS CVSADYQTAQ
RRVPVEESET GPYGPIPSKP KALYRNMNLD SLLKLSVLKD SDGVHRVSAR VDPESLHKYS
AYPETKPSAK VLVSSQVESN VRTPIRGNSE VGRRVTISPG VQSVEPTHHV TVPSVSEGSH
KSSMFVTPEP IYKQQTQKPP EITYMSQGPT PRYPELSQKP SIHAELELTP RPLPPRSLPR
YGPDSSWWPL LNPEVETPQS QLTTPDFEPK CSPSLDLLLS GFKIDSSPFC EDLKFQREKA
SLSPPSPPKE FPSWAPLSEV PQTPKHTCKQ PIQRFTAFFL DVSEEMYNRV IWWLKGLCFS
LLWAHCGSLG DGRTGEEWHL CIYRAGSFRR
//
ID FA57A_HUMAN Reviewed; 257 AA.
AC Q8TBR7; A8K7Q0; Q7Z464; Q96D97; Q9H6H3;
DT 29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 12-APR-2005, sequence version 2.
DT 27-SEP-2017, entry version 121.
DE RecName: Full=Protein FAM57A;
DE AltName: Full=Protein CT120;
GN Name=FAM57A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INTERACTION WITH GGT7 AND
RP SLC3A2, AND TISSUE SPECIFICITY.
RX PubMed=12270127; DOI=10.1016/S0006-291X(02)02227-1;
RA He X.H., Di Y., Li J., Xie Y., Tang Y., Zhang F., Wei L., Zhang Y.,
RA Qin W.X., Huo K., Li Y., Wan D.F., Gu J.R.;
RT "Molecular cloning and characterization of CT120, a novel membrane-
RT associated gene involved in amino acid transport and glutathione
RT metabolism.";
RL Biochem. Biophys. Res. Commun. 297:528-536(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Stomach;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBUNIT: Interacts with GGT7 isoform 3 and SLC3A2.
CC {ECO:0000269|PubMed:12270127}.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=2; Synonyms=CT120A;
CC IsoId=Q8TBR7-2; Sequence=Displayed;
CC Name=1; Synonyms=CT120B;
CC IsoId=Q8TBR7-1; Sequence=VSP_008149;
CC -!- TISSUE SPECIFICITY: Highly expressed in pancreas. Detected at
CC intermediate levels in heart, placenta and kidney, and at low
CC levels in brain, liver and skeletal muscle. Not detected in normal
CC lung. {ECO:0000269|PubMed:12270127}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC and Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/FAM57AID40183ch17p13.html";
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CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
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DR EMBL; AF477201; AAM90843.1; -; mRNA.
DR EMBL; AK025935; BAB15286.1; -; mRNA.
DR EMBL; AK292065; BAF84754.1; -; mRNA.
DR EMBL; CH471108; EAW90655.1; -; Genomic_DNA.
DR EMBL; BC009729; AAH09729.1; -; mRNA.
DR EMBL; BC026023; AAH26023.1; -; mRNA.
DR CCDS; CCDS10996.1; -. [Q8TBR7-2]
DR CCDS; CCDS82031.1; -. [Q8TBR7-1]
DR RefSeq; NP_001304935.1; NM_001318006.1. [Q8TBR7-1]
DR RefSeq; NP_001304936.1; NM_001318007.1.
DR RefSeq; NP_001304937.1; NM_001318008.1.
DR RefSeq; NP_079068.1; NM_024792.2. [Q8TBR7-2]
DR UniGene; Hs.154396; -.
DR ProteinModelPortal; Q8TBR7; -.
DR BioGrid; 122941; 2.
DR IntAct; Q8TBR7; 1.
DR STRING; 9606.ENSP00000312017; -.
DR iPTMnet; Q8TBR7; -.
DR PhosphoSitePlus; Q8TBR7; -.
DR BioMuta; FAM57A; -.
DR DMDM; 62512180; -.
DR PaxDb; Q8TBR7; -.
DR PeptideAtlas; Q8TBR7; -.
DR PRIDE; Q8TBR7; -.
DR Ensembl; ENST00000301324; ENSP00000301324; ENSG00000167695. [Q8TBR7-1]
DR Ensembl; ENST00000308278; ENSP00000312017; ENSG00000167695. [Q8TBR7-2]
DR GeneID; 79850; -.
DR KEGG; hsa:79850; -.
DR UCSC; uc002frp.4; human. [Q8TBR7-2]
DR CTD; 79850; -.
DR DisGeNET; 79850; -.
DR EuPathDB; HostDB:ENSG00000167695.14; -.
DR GeneCards; FAM57A; -.
DR HGNC; HGNC:29646; FAM57A.
DR MIM; 611627; gene.
DR neXtProt; NX_Q8TBR7; -.
DR OpenTargets; ENSG00000167695; -.
DR PharmGKB; PA142671861; -.
DR eggNOG; KOG4561; Eukaryota.
DR eggNOG; ENOG410XPW0; LUCA.
DR GeneTree; ENSGT00510000046654; -.
DR HOGENOM; HOG000237329; -.
DR HOVERGEN; HBG051539; -.
DR InParanoid; Q8TBR7; -.
DR OMA; IRSCDDV; -.
DR OrthoDB; EOG091G0X5A; -.
DR PhylomeDB; Q8TBR7; -.
DR TreeFam; TF324847; -.
DR ChiTaRS; FAM57A; human.
DR GenomeRNAi; 79850; -.
DR PRO; PR:Q8TBR7; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000167695; -.
DR CleanEx; HS_FAM57A; -.
DR ExpressionAtlas; Q8TBR7; baseline and differential.
DR Genevisible; Q8TBR7; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR InterPro; IPR006634; TLC-dom.
DR Pfam; PF03798; TRAM_LAG1_CLN8; 1.
DR SMART; SM00724; TLC; 1.
DR PROSITE; PS50922; TLC; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Complete proteome; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 257 Protein FAM57A.
FT /FTId=PRO_0000185540.
FT TRANSMEM 1 21 Helical. {ECO:0000255}.
FT TRANSMEM 42 62 Helical. {ECO:0000255}.
FT TRANSMEM 77 97 Helical. {ECO:0000255}.
FT TRANSMEM 113 135 Helical. {ECO:0000255}.
FT TRANSMEM 142 162 Helical. {ECO:0000255}.
FT TRANSMEM 181 201 Helical. {ECO:0000255}.
FT TRANSMEM 220 240 Helical. {ECO:0000255}.
FT DOMAIN 33 249 TLC. {ECO:0000255|PROSITE-
FT ProRule:PRU00205}.
FT VAR_SEQ 137 168 Missing (in isoform 1).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_008149.
FT CONFLICT 25 25 R -> H (in Ref. 1; AAM90843).
FT {ECO:0000305}.
FT CONFLICT 129 129 F -> L (in Ref. 1; AAM90843).
FT {ECO:0000305}.
SQ SEQUENCE 257 AA; 29383 MW; C799BF7143A6DA01 CRC64;
MLLTLAGGAL FFPGLFALCT WALRRSQPGW SRTDCVMIST RLVSSVHAVL ATGSGIVIIR
SCDDVITGRH WLAREYVWFL IPYMIYDSYA MYLCEWCRTR DQNRAPSLTL RNFLSRNRLM
ITHHAVILFV LVPVAQRLRG DLGDFFVGCI FTAELSTPFV SLGRVLIQLK QQHTLLYKVN
GILTLATFLS CRILLFPFMY WSYGRQQGLS LLQVPFSIPF YCNVANAFLV APQIYWFCLL
CRKAVRLFDT PQAKKDG
//
ID FNDC8_HUMAN Reviewed; 324 AA.
AC Q8TC99; B2R9G6; Q9UFC2;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 17-APR-2007, sequence version 2.
DT 28-FEB-2018, entry version 107.
DE RecName: Full=Fibronectin type III domain-containing protein 8;
GN Name=FNDC8;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT PRO-36.
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
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DR EMBL; AK313775; BAG36513.1; -; mRNA.
DR EMBL; AL133054; CAB61380.1; -; mRNA.
DR EMBL; BC024002; AAH24002.1; -; mRNA.
DR CCDS; CCDS11290.1; -.
DR PIR; T42656; T42656.
DR RefSeq; NP_060029.1; NM_017559.2.
DR UniGene; Hs.120369; -.
DR ProteinModelPortal; Q8TC99; -.
DR SMR; Q8TC99; -.
DR IntAct; Q8TC99; 3.
DR STRING; 9606.ENSP00000158009; -.
DR iPTMnet; Q8TC99; -.
DR PhosphoSitePlus; Q8TC99; -.
DR BioMuta; FNDC8; -.
DR DMDM; 145558918; -.
DR PaxDb; Q8TC99; -.
DR PeptideAtlas; Q8TC99; -.
DR PRIDE; Q8TC99; -.
DR DNASU; 54752; -.
DR Ensembl; ENST00000158009; ENSP00000158009; ENSG00000073598.
DR GeneID; 54752; -.
DR KEGG; hsa:54752; -.
DR UCSC; uc002hix.4; human.
DR CTD; 54752; -.
DR EuPathDB; HostDB:ENSG00000073598.5; -.
DR GeneCards; FNDC8; -.
DR HGNC; HGNC:25286; FNDC8.
DR HPA; HPA026521; -.
DR neXtProt; NX_Q8TC99; -.
DR OpenTargets; ENSG00000073598; -.
DR PharmGKB; PA142671757; -.
DR eggNOG; ENOG410IF7Q; Eukaryota.
DR eggNOG; ENOG41115T3; LUCA.
DR GeneTree; ENSGT00390000006458; -.
DR HOGENOM; HOG000060110; -.
DR HOVERGEN; HBG096624; -.
DR InParanoid; Q8TC99; -.
DR OMA; AVISWTY; -.
DR OrthoDB; EOG091G0D7C; -.
DR PhylomeDB; Q8TC99; -.
DR TreeFam; TF338149; -.
DR GenomeRNAi; 54752; -.
DR PRO; PR:Q8TC99; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000073598; -.
DR CleanEx; HS_FNDC8; -.
DR Genevisible; Q8TC99; HS.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR CDD; cd00063; FN3; 1.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR Pfam; PF00041; fn3; 1.
DR SMART; SM00060; FN3; 1.
DR SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50853; FN3; 1.
PE 2: Evidence at transcript level;
KW Complete proteome; Polymorphism; Reference proteome.
FT CHAIN 1 324 Fibronectin type III domain-containing
FT protein 8.
FT /FTId=PRO_0000284530.
FT DOMAIN 179 280 Fibronectin type-III.
FT {ECO:0000255|PROSITE-ProRule:PRU00316}.
FT VARIANT 36 36 S -> P (in dbSNP:rs1871892).
FT {ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_031770.
FT VARIANT 127 127 A -> T (in dbSNP:rs12952106).
FT /FTId=VAR_050999.
SQ SEQUENCE 324 AA; 35921 MW; FB08649C5CADE086 CRC64;
MASEALHQVG DGEEAVLKKE NFNMMNALDQ LPKPFSNPKS MNRTVTTKGL PLASKGNLVN
FLEDDTINLL KPLPVEDSDC SSDETSISAF SSTLLNPIKL AVTQPNSSFF AGMLEGELNK
LSFSPMAKNA ENEDLALGPC PCPSKSQMAT RGLLDLDNPE LETETSSTHS ESSVVVDLPD
TPFIFEHTVN NSTAVISWTY ALGKQPVSFY QLLLQEVAKT QENELPEAKN RPWIFNKILG
TTVKLMELKP NTCYCLSVRA ANTAGVGKWC KPYKFATLAT DFSSFPENYP IQITVRRKEP
RQKIVSIGPE EMRRLEDLEY LFPC
//
ID F222B_HUMAN Reviewed; 562 AA.
AC Q8WU58; Q9H6F3; Q9NVJ4; Q9NXN6;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 27-SEP-2017, entry version 98.
DE RecName: Full=Protein FAM222B;
GN Name=FAM222B; Synonyms=C17orf63;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon, Kidney epithelium, and Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC Q99471:PFDN5; NbExp=4; IntAct=EBI-2807642, EBI-357275;
CC -!- SIMILARITY: Belongs to the FAM222 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA90974.1; Type=Frameshift; Positions=433; Evidence={ECO:0000305};
CC Sequence=BAB15306.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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DR EMBL; AK000147; BAA90974.1; ALT_FRAME; mRNA.
DR EMBL; AK001562; BAA91757.1; -; mRNA.
DR EMBL; AK025980; BAB15306.1; ALT_INIT; mRNA.
DR EMBL; AC010761; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC024267; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC021228; AAH21228.1; -; mRNA.
DR CCDS; CCDS45637.1; -.
DR RefSeq; NP_001070966.1; NM_001077498.2.
DR RefSeq; NP_001275560.1; NM_001288631.1.
DR RefSeq; NP_001275561.1; NM_001288632.1.
DR RefSeq; NP_001275562.1; NM_001288633.1.
DR RefSeq; NP_001275563.1; NM_001288634.1.
DR RefSeq; NP_001275564.1; NM_001288635.1.
DR RefSeq; NP_001275565.1; NM_001288636.1.
DR RefSeq; NP_001275566.1; NM_001288637.1.
DR RefSeq; NP_001275567.1; NM_001288638.1.
DR RefSeq; NP_001275568.1; NM_001288639.1.
DR RefSeq; NP_001275569.1; NM_001288640.1.
DR RefSeq; NP_060652.2; NM_018182.3.
DR RefSeq; XP_016880320.1; XM_017024831.1.
DR RefSeq; XP_016880321.1; XM_017024832.1.
DR RefSeq; XP_016880322.1; XM_017024833.1.
DR RefSeq; XP_016880323.1; XM_017024834.1.
DR UniGene; Hs.564533; -.
DR ProteinModelPortal; Q8WU58; -.
DR BioGrid; 120850; 1.
DR IntAct; Q8WU58; 37.
DR iPTMnet; Q8WU58; -.
DR PhosphoSitePlus; Q8WU58; -.
DR DMDM; 74730670; -.
DR EPD; Q8WU58; -.
DR PaxDb; Q8WU58; -.
DR PeptideAtlas; Q8WU58; -.
DR PRIDE; Q8WU58; -.
DR DNASU; 55731; -.
DR Ensembl; ENST00000452648; ENSP00000413645; ENSG00000173065.
DR Ensembl; ENST00000581407; ENSP00000462419; ENSG00000173065.
DR GeneID; 55731; -.
DR KEGG; hsa:55731; -.
DR UCSC; uc002hct.2; human.
DR CTD; 55731; -.
DR EuPathDB; HostDB:ENSG00000173065.13; -.
DR GeneCards; FAM222B; -.
DR H-InvDB; HIX0013663; -.
DR HGNC; HGNC:25563; FAM222B.
DR HPA; HPA051840; -.
DR HPA; HPA062239; -.
DR neXtProt; NX_Q8WU58; -.
DR OpenTargets; ENSG00000173065; -.
DR PharmGKB; PA142672246; -.
DR eggNOG; ENOG410IEMV; Eukaryota.
DR eggNOG; ENOG410YNEB; LUCA.
DR GeneTree; ENSGT00530000063811; -.
DR HOGENOM; HOG000111757; -.
DR HOVERGEN; HBG058998; -.
DR InParanoid; Q8WU58; -.
DR OMA; RAPTGYP; -.
DR OrthoDB; EOG091G0401; -.
DR PhylomeDB; Q8WU58; -.
DR TreeFam; TF331508; -.
DR SignaLink; Q8WU58; -.
DR ChiTaRS; FAM222B; human.
DR GenomeRNAi; 55731; -.
DR PRO; PR:Q8WU58; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000173065; -.
DR CleanEx; HS_C17orf63; -.
DR ExpressionAtlas; Q8WU58; baseline and differential.
DR Genevisible; Q8WU58; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR InterPro; IPR029340; FAM222.
DR PANTHER; PTHR16070; PTHR16070; 1.
DR Pfam; PF15258; FAM222A; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Polymorphism; Reference proteome.
FT CHAIN 1 562 Protein FAM222B.
FT /FTId=PRO_0000274245.
FT COMPBIAS 148 220 Gln-rich.
FT VARIANT 471 471 L -> S (in dbSNP:rs2043031).
FT /FTId=VAR_050900.
FT VARIANT 542 542 G -> S (in dbSNP:rs36029715).
FT /FTId=VAR_050901.
FT CONFLICT 15 15 L -> P (in Ref. 1; BAA91757).
FT {ECO:0000305}.
FT CONFLICT 261 261 Q -> R (in Ref. 1; BAA91757).
FT {ECO:0000305}.
FT CONFLICT 557 557 Q -> L (in Ref. 1; BAA91757).
FT {ECO:0000305}.
SQ SEQUENCE 562 AA; 59652 MW; 5DCE56EBA36523C3 CRC64;
MLACLPGPGD LSFQLLSHTQ MNTGLQKWDT TQKMRTAHYP TPAELDAYAK KVANNPLTIK
IFPNSVKVPQ RKHVRRTVNG LDTSAQRYSP YPTQAATKAG LLAIVKVPAK SILKDFDGTR
ARLLPEAIMN PPVAPYATVA PSTLAHPQAQ ALARQQALQH AQTLAHAPPQ TLQHPQGIPP
PQALSHPQSL QQPQGLGHPQ PMAQTQGLVH PQALAHQGLQ HPHNPLLHGG RKMPDSDAPP
NVTVSTSTIP LSMAATLQHS QPPDLSSIVH QINQFCQTRA GISTTSVCEG QIANPSPISR
SLLINASTRV STHSVPTPMP SCVVNPMEHT HAATAALPAA GPVNLPTGIS RVPTGYPSDL
KPVTWNQHQL AHLQQMCSEA SGTPAPGLTG KHAAGRELAG PGFVGKAPAY PQELCLAQSF
HLKPPLEKPT PSPPVNGMAA PLAYPNGHYF QPLWNNILPT PNSDSSGSQD LAMPFHGGQP
TGAPLDCAAA PGAHYRAGTG GGPVASQNSL MQTVDYLSGD FQQACFREQS LAMLSKAHRA
PGNRAPDPTE SRSLHIQHPG YR
//
ID CQ050_HUMAN Reviewed; 174 AA.
AC Q8WW18; Q6Q621;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 22-NOV-2017, entry version 97.
DE RecName: Full=Uncharacterized protein C17orf50;
GN Name=C17orf50;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Li H., Ke R., Zhong G., Shen C., Zhou G., Lin L., Yang S.;
RL Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases.
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DR EMBL; AY557347; AAS67921.1; -; mRNA.
DR CCDS; CCDS42298.1; -.
DR RefSeq; NP_660315.2; NM_145272.3.
DR UniGene; Hs.127194; -.
DR ProteinModelPortal; Q8WW18; -.
DR IntAct; Q8WW18; 10.
DR BioMuta; C17orf50; -.
DR DMDM; 115502131; -.
DR PaxDb; Q8WW18; -.
DR PeptideAtlas; Q8WW18; -.
DR PRIDE; Q8WW18; -.
DR DNASU; 146853; -.
DR Ensembl; ENST00000605587; ENSP00000475146; ENSG00000270806.
DR GeneID; 146853; -.
DR KEGG; hsa:146853; -.
DR UCSC; uc002hjx.4; human.
DR CTD; 146853; -.
DR EuPathDB; HostDB:ENSG00000270806.1; -.
DR GeneCards; C17orf50; -.
DR HGNC; HGNC:29581; C17orf50.
DR HPA; HPA043184; -.
DR HPA; HPA063464; -.
DR neXtProt; NX_Q8WW18; -.
DR OpenTargets; ENSG00000270806; -.
DR PharmGKB; PA142672233; -.
DR eggNOG; ENOG410J7R1; Eukaryota.
DR eggNOG; ENOG4111ED0; LUCA.
DR GeneTree; ENSGT00390000007830; -.
DR HOGENOM; HOG000004857; -.
DR HOVERGEN; HBG081324; -.
DR InParanoid; Q8WW18; -.
DR OMA; RADSGFW; -.
DR OrthoDB; EOG091G0RGW; -.
DR PhylomeDB; Q8WW18; -.
DR TreeFam; TF337655; -.
DR GenomeRNAi; 146853; -.
DR PRO; PR:Q8WW18; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000270806; -.
DR CleanEx; HS_C17orf50; -.
DR ExpressionAtlas; Q8WW18; baseline and differential.
DR Genevisible; Q8WW18; HS.
DR InterPro; IPR029174; DUF4637.
DR PANTHER; PTHR37878; PTHR37878; 1.
DR Pfam; PF15470; DUF4637; 1.
PE 2: Evidence at transcript level;
KW Complete proteome; Polymorphism; Reference proteome.
FT CHAIN 1 174 Uncharacterized protein C17orf50.
FT /FTId=PRO_0000251202.
FT VARIANT 22 22 D -> E (in dbSNP:rs4795087).
FT /FTId=VAR_050899.
SQ SEQUENCE 174 AA; 19346 MW; DECB7ADE092596CE CRC64;
MDKHGVKTPL WKKETEELRA EDAEQEEGKE GSEDEDEDNQ RPLEDSATEG EEPPRVAEEG
EGRERRSVSY CPLRQESSTQ QVALLRRADS GFWGWLGPLA LLGGLTAPTD RKRSLPEEPC
VLEIRRRPPR RGGCACCELL FCKKCRSLHS HPAYVAHCVL DHPDLGKAGA AGNS
//
ID CSKI2_HUMAN Reviewed; 1202 AA.
AC Q8WXE0; B4DTT3; B7Z9H1; Q7LG69; Q9ULT1;
DT 15-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 28-FEB-2018, entry version 143.
DE RecName: Full=Caskin-2;
DE AltName: Full=CASK-interacting protein 2;
GN Name=CASKIN2; Synonyms=KIAA1139;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT GLY-891.
RX PubMed=12040031;
RA Tabuchi K., Biederer T., Butz S., Suedhof T.C.;
RT "CASK participates in alternative tripartite complexes in which Mint 1
RT competes for binding with Caskin 1, a novel CASK-binding protein.";
RL J. Neurosci. 22:4264-4273(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
RP GLY-891.
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP GLY-891.
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 79-1202 (ISOFORM 1), AND
RP VARIANT GLY-891.
RC TISSUE=Brain;
RX PubMed=10574461; DOI=10.1093/dnares/6.5.329;
RA Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.;
RT "Characterization of cDNA clones selected by the GeneMark analysis
RT from size-fractionated cDNA libraries from human brain.";
RL DNA Res. 6:329-336(1999).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-393; SER-396; SER-471;
RP SER-858 AND SER-892, VARIANT [LARGE SCALE ANALYSIS] GLY-891, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-396 AND SER-471, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-393 AND SER-396, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-253; SER-358; SER-393;
RP SER-396; SER-471; SER-725; SER-858; SER-878 AND SER-892, VARIANT
RP [LARGE SCALE ANALYSIS] GLY-891, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-403 AND SER-406, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA Wang L., Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT liver phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [11]
RP STRUCTURE BY NMR OF 284-348.
RX PubMed=21328705; DOI=10.1142/S0219720011005276;
RA Alipanahi B., Gao X., Karakoc E., Li S.C., Balbach F., Feng G.,
RA Donaldson L., Li M.;
RT "Error tolerant NMR backbone resonance assignment and automated
RT structure generation.";
RL J. Bioinform. Comput. Biol. 9:15-41(2011).
CC -!- SUBUNIT: May not bind CASK.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8WXE0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WXE0-2; Sequence=VSP_040568;
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DR EMBL; AF451976; AAL49757.1; -; mRNA.
DR EMBL; AK300354; BAG62095.1; -; mRNA.
DR EMBL; AK315936; BAH14307.1; -; mRNA.
DR EMBL; AC100787; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC066643; AAH66643.1; -; mRNA.
DR EMBL; AB032965; BAA86453.1; -; mRNA.
DR CCDS; CCDS11723.1; -. [Q8WXE0-1]
DR CCDS; CCDS45775.1; -. [Q8WXE0-2]
DR RefSeq; NP_001136115.1; NM_001142643.2. [Q8WXE0-2]
DR RefSeq; NP_065804.2; NM_020753.4. [Q8WXE0-1]
DR UniGene; Hs.274408; -.
DR UniGene; Hs.745460; -.
DR PDB; 2KE9; NMR; -; A=284-348.
DR PDB; 4IS7; X-ray; 2.75 A; A=483-633.
DR PDB; 5L1M; X-ray; 2.75 A; A=483-633.
DR PDBsum; 2KE9; -.
DR PDBsum; 4IS7; -.
DR PDBsum; 5L1M; -.
DR ProteinModelPortal; Q8WXE0; -.
DR SMR; Q8WXE0; -.
DR BioGrid; 121577; 8.
DR IntAct; Q8WXE0; 3.
DR STRING; 9606.ENSP00000325355; -.
DR iPTMnet; Q8WXE0; -.
DR PhosphoSitePlus; Q8WXE0; -.
DR SwissPalm; Q8WXE0; -.
DR DMDM; 296434467; -.
DR EPD; Q8WXE0; -.
DR MaxQB; Q8WXE0; -.
DR PaxDb; Q8WXE0; -.
DR PeptideAtlas; Q8WXE0; -.
DR PRIDE; Q8WXE0; -.
DR Ensembl; ENST00000321617; ENSP00000325355; ENSG00000177303. [Q8WXE0-1]
DR Ensembl; ENST00000433559; ENSP00000406963; ENSG00000177303. [Q8WXE0-2]
DR GeneID; 57513; -.
DR KEGG; hsa:57513; -.
DR UCSC; uc002joc.5; human. [Q8WXE0-1]
DR CTD; 57513; -.
DR EuPathDB; HostDB:ENSG00000177303.9; -.
DR GeneCards; CASKIN2; -.
DR H-InvDB; HIX0020291; -.
DR HGNC; HGNC:18200; CASKIN2.
DR HPA; HPA055836; -.
DR HPA; HPA065308; -.
DR MIM; 612185; gene.
DR neXtProt; NX_Q8WXE0; -.
DR OpenTargets; ENSG00000177303; -.
DR PharmGKB; PA134944093; -.
DR eggNOG; KOG0507; Eukaryota.
DR eggNOG; KOG4384; Eukaryota.
DR eggNOG; COG0666; LUCA.
DR GeneTree; ENSGT00530000063104; -.
DR HOGENOM; HOG000049168; -.
DR HOVERGEN; HBG051133; -.
DR InParanoid; Q8WXE0; -.
DR KO; K21952; -.
DR OMA; PYVFMYP; -.
DR OrthoDB; EOG091G00P3; -.
DR PhylomeDB; Q8WXE0; -.
DR TreeFam; TF320582; -.
DR GenomeRNAi; 57513; -.
DR PRO; PR:Q8WXE0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000177303; -.
DR CleanEx; HS_CASKIN2; -.
DR ExpressionAtlas; Q8WXE0; baseline and differential.
DR Genevisible; Q8WXE0; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR CDD; cd00204; ANK; 3.
DR CDD; cd09497; SAM_caskin1_2_repeat1; 1.
DR CDD; cd09498; SAM_caskin1_2_repeat2; 1.
DR CDD; cd12063; SH3_Caskin2; 1.
DR Gene3D; 1.25.40.20; -; 1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR020683; Ankyrin_rpt-contain_dom.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR035497; Caskin1/2_SAM_1.
DR InterPro; IPR035498; Caskin1/2_SAM_2.
DR InterPro; IPR035499; Caskin2_SH3.
DR InterPro; IPR032117; Caskin_C.
DR InterPro; IPR001660; SAM.
DR InterPro; IPR013761; SAM/pointed_sf.
DR InterPro; IPR036028; SH3-like_dom_sf.
DR InterPro; IPR001452; SH3_domain.
DR Pfam; PF12796; Ank_2; 2.
DR Pfam; PF16632; Caskin-tail; 1.
DR Pfam; PF00536; SAM_1; 2.
DR Pfam; PF07653; SH3_2; 1.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 6.
DR SMART; SM00454; SAM; 2.
DR SMART; SM00326; SH3; 1.
DR SUPFAM; SSF47769; SSF47769; 2.
DR SUPFAM; SSF48403; SSF48403; 1.
DR SUPFAM; SSF50044; SSF50044; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 5.
DR PROSITE; PS50105; SAM_DOMAIN; 2.
DR PROSITE; PS50002; SH3; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; ANK repeat; Complete proteome;
KW Cytoplasm; Phosphoprotein; Polymorphism; Reference proteome; Repeat;
KW SH3 domain.
FT CHAIN 1 1202 Caskin-2.
FT /FTId=PRO_0000066983.
FT REPEAT 48 77 ANK 1.
FT REPEAT 81 110 ANK 2.
FT REPEAT 114 143 ANK 3.
FT REPEAT 147 176 ANK 4.
FT REPEAT 188 217 ANK 5.
FT REPEAT 220 249 ANK 6.
FT DOMAIN 281 347 SH3. {ECO:0000255|PROSITE-
FT ProRule:PRU00192}.
FT DOMAIN 489 552 SAM 1. {ECO:0000255|PROSITE-
FT ProRule:PRU00184}.
FT DOMAIN 558 622 SAM 2. {ECO:0000255|PROSITE-
FT ProRule:PRU00184}.
FT COMPBIAS 685 1133 Pro-rich.
FT MOD_RES 253 253 Phosphotyrosine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 358 358 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 393 393 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:20068231,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 396 396 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:19690332,
FT ECO:0000244|PubMed:20068231,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 403 403 Phosphoserine.
FT {ECO:0000244|PubMed:24275569}.
FT MOD_RES 406 406 Phosphoserine.
FT {ECO:0000244|PubMed:24275569}.
FT MOD_RES 409 409 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8VHK1}.
FT MOD_RES 471 471 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:19690332,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 725 725 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 858 858 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 877 877 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q8VHK1}.
FT MOD_RES 878 878 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 892 892 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:23186163}.
FT VAR_SEQ 1 82 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_040568.
FT VARIANT 891 891 E -> G (in dbSNP:rs7503373).
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:23186163,
FT ECO:0000269|PubMed:10574461,
FT ECO:0000269|PubMed:12040031,
FT ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_060244.
FT CONFLICT 640 640 A -> G (in Ref. 2; BAH14307).
FT {ECO:0000305}.
FT CONFLICT 1093 1093 L -> P (in Ref. 2; BAH14307).
FT {ECO:0000305}.
FT STRAND 284 290 {ECO:0000244|PDB:2KE9}.
FT STRAND 308 312 {ECO:0000244|PDB:2KE9}.
FT STRAND 320 324 {ECO:0000244|PDB:2KE9}.
FT STRAND 335 337 {ECO:0000244|PDB:2KE9}.
FT HELIX 339 341 {ECO:0000244|PDB:2KE9}.
FT STRAND 342 345 {ECO:0000244|PDB:2KE9}.
FT HELIX 490 499 {ECO:0000244|PDB:4IS7}.
FT TURN 500 502 {ECO:0000244|PDB:4IS7}.
FT HELIX 504 506 {ECO:0000244|PDB:5L1M}.
FT HELIX 507 512 {ECO:0000244|PDB:4IS7}.
FT HELIX 517 520 {ECO:0000244|PDB:4IS7}.
FT HELIX 525 530 {ECO:0000244|PDB:4IS7}.
FT HELIX 536 547 {ECO:0000244|PDB:4IS7}.
FT TURN 555 558 {ECO:0000244|PDB:4IS7}.
FT HELIX 563 569 {ECO:0000244|PDB:4IS7}.
FT HELIX 573 575 {ECO:0000244|PDB:4IS7}.
FT HELIX 576 581 {ECO:0000244|PDB:4IS7}.
FT HELIX 587 590 {ECO:0000244|PDB:4IS7}.
FT HELIX 595 597 {ECO:0000244|PDB:4IS7}.
FT HELIX 598 601 {ECO:0000244|PDB:4IS7}.
FT HELIX 606 624 {ECO:0000244|PDB:4IS7}.
SQ SEQUENCE 1202 AA; 126783 MW; 881E6BAEEBDF3DC5 CRC64;
MGREQDLILA VKNGDVTGVQ KLVAKVKATK TKLLGSTKRL NVNYQDADGF SALHHAALGG
SLELIALLLE AQATVDIKDS NGMRPLHYAA WQGRLEPVRL LLRASAAVNA ASLDGQIPLH
LAAQYGHYEV SEMLLQHQSN PCLVNKAKKT PLDLACEFGR LKVAQLLLNS HLCVALLEGE
AKDPCDPNYT TPLHLAAKNG HREVIRQLLR AGIEINRQTK TGTALHEAAL YGKTEVVRLL
LEGGVDVNIR NTYNQTALDI VNQFTTSQAS REIKQLLREA SGILKVRALK DFWNLHDPTA
LNVRAGDVIT VLEQHPDGRW KGHIHESQRG TDRIGYFPPG IVEVVSKRVG IPAARLPSAP
TPLRPGFSRT PQPPAEEPPH PLTYSQLPRV GLSPDSPAGD RNSVGSEGSV GSIRSAGSGQ
SSEGTNGHGP GLLIENAQPL PSAGEDQVLP GLHPPSLADN LSHRPLANCR SGEQIFTQDV
RPEQLLEGKD AQAIHNWLSE FQLEGYTAHF LQAGYDVPTI SRMTPEDLTA IGVTKPGHRK
KIASEIAQLS IAEWLPSYIP TDLLEWLCAL GLPQYHKQLV SSGYDSMGLV ADLTWEELQE
IGVNKLGHQK KLMLGVKRLA ELRRGLLQGE ALSEGGRRLA KGPELMAIEG LENGEGPATA
GPRLLTFQGS ELSPELQAAM AGGGPEPLPL PPARSPSQES IGARSRGSGH SQEQPAPQPS
GGDPSPPQER NLPEGTERPP KLCSSLPGQG PPPYVFMYPQ GSPSSPAPGP PPGAPWAFSY
LAGPPATPPD PPRPKRRSHS LSRPGPTEGD AEGEAEGPVG STLGSYATLT RRPGRSALVR
TSPSVTPTPA RGTPRSQSFA LRARRKGPPP PPPKRLSSVS GPSPEPPPLD ESPGPKEGAT
GPRRRTLSEP AGPSEPPGPP APAGPASDTE EEEPGPEGTP PSRGSSGEGL PFAEEGNLTI
KQRPKPAGPP PRETPVPPGL DFNLTESDTV KRRPKCRERE PLQTALLAFG VASATPGPAA
PLPSPTPGES PPASSLPQPE PSSLPAQGVP TPLAPSPAMQ PPVPPCPGPG LESSAASRWN
GETEPPAAPA ALLKVPGAGT APKPVSVACT QLAFSGPKLA PRLGPRPVPP PRPESTGTVG
PGQAQQRLEQ TSSSLAAALR AAEKSIGTKE QEGTPSASTK HILDDISTMF DALADQLDAM
LD
//
ID F104A_HUMAN Reviewed; 186 AA.
AC Q969W3; B4E339;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 2.
DT 28-MAR-2018, entry version 107.
DE RecName: Full=Protein FAM104A;
GN Name=FAM104A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Teratocarcinoma, and Uterus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 51-186 (ISOFORM 1).
RC TISSUE=Brain, and Rhabdomyosarcoma;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 57-186 (ISOFORM 2).
RX PubMed=9417904; DOI=10.1006/geno.1997.5044;
RA Reddy P.H., Stockburger E., Gillevet P., Tagle D.A.;
RT "Mapping and characterization of novel (CAG)n repeat cDNAs from adult
RT human brain derived by the oligo capture method.";
RL Genomics 46:174-182(1997).
RN [6]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-4, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Colon carcinoma;
RX PubMed=24129315; DOI=10.1074/mcp.O113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V.,
RA Aguiar M., Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C.,
RA Vemulapalli V., Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
CC -!- INTERACTION:
CC V9HW80:HEL-S-70; NbExp=3; IntAct=EBI-10281506, EBI-10175326;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q969W3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q969W3-2; Sequence=VSP_039868;
CC -!- SIMILARITY: Belongs to the FAM104 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH11054.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
CC Sequence=AAH25238.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
CC Sequence=BAB55292.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
CC Sequence=BAC11183.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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DR EMBL; AK027681; BAB55292.1; ALT_INIT; mRNA.
DR EMBL; AK074755; BAC11183.1; ALT_INIT; mRNA.
DR EMBL; AK304556; BAG65351.1; -; mRNA.
DR EMBL; AC097641; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471099; EAW89116.1; -; Genomic_DNA.
DR EMBL; BC011054; AAH11054.1; ALT_INIT; mRNA.
DR EMBL; BC025238; AAH25238.1; ALT_INIT; mRNA.
DR EMBL; U92989; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS11693.2; -. [Q969W3-1]
DR CCDS; CCDS45766.1; -. [Q969W3-2]
DR RefSeq; NP_001092302.1; NM_001098832.1. [Q969W3-2]
DR RefSeq; NP_001276339.1; NM_001289410.1.
DR RefSeq; NP_001276340.1; NM_001289411.1.
DR RefSeq; NP_001276341.1; NM_001289412.1.
DR RefSeq; NP_116226.2; NM_032837.2. [Q969W3-1]
DR UniGene; Hs.741276; -.
DR ProteinModelPortal; Q969W3; -.
DR SMR; Q969W3; -.
DR BioGrid; 124358; 6.
DR IntAct; Q969W3; 3.
DR iPTMnet; Q969W3; -.
DR PhosphoSitePlus; Q969W3; -.
DR BioMuta; FAM104A; -.
DR DMDM; 308153443; -.
DR EPD; Q969W3; -.
DR MaxQB; Q969W3; -.
DR PeptideAtlas; Q969W3; -.
DR PRIDE; Q969W3; -.
DR Ensembl; ENST00000403627; ENSP00000384648; ENSG00000133193. [Q969W3-1]
DR Ensembl; ENST00000405159; ENSP00000384832; ENSG00000133193. [Q969W3-2]
DR GeneID; 84923; -.
DR KEGG; hsa:84923; -.
DR UCSC; uc002jji.5; human. [Q969W3-1]
DR CTD; 84923; -.
DR EuPathDB; HostDB:ENSG00000133193.12; -.
DR GeneCards; FAM104A; -.
DR H-InvDB; HIX0014136; -.
DR H-InvDB; HIX0019625; -.
DR HGNC; HGNC:25918; FAM104A.
DR HPA; HPA021459; -.
DR neXtProt; NX_Q969W3; -.
DR OpenTargets; ENSG00000133193; -.
DR PharmGKB; PA142671787; -.
DR GeneTree; ENSGT00390000001055; -.
DR HOGENOM; HOG000231053; -.
DR HOVERGEN; HBG059882; -.
DR InParanoid; Q969W3; -.
DR OMA; NPVFHDS; -.
DR OrthoDB; EOG091G11TE; -.
DR PhylomeDB; Q969W3; -.
DR TreeFam; TF335777; -.
DR ChiTaRS; FAM104A; human.
DR GenomeRNAi; 84923; -.
DR PRO; PR:Q969W3; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000133193; -.
DR CleanEx; HS_FAM104A; -.
DR ExpressionAtlas; Q969W3; baseline and differential.
DR Genevisible; Q969W3; HS.
DR InterPro; IPR029222; FAM104.
DR PANTHER; PTHR34763; PTHR34763; 1.
DR Pfam; PF15434; FAM104; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Methylation;
KW Reference proteome.
FT CHAIN 1 186 Protein FAM104A.
FT /FTId=PRO_0000236182.
FT COMPBIAS 94 145 Ser-rich.
FT MOD_RES 4 4 Omega-N-methylarginine.
FT {ECO:0000244|PubMed:24129315}.
FT VAR_SEQ 107 107 E -> ETVPVMRNSKENRLRGNKAFCA (in isoform
FT 2). {ECO:0000303|PubMed:9417904}.
FT /FTId=VSP_039868.
SQ SEQUENCE 186 AA; 19484 MW; BE96E7F6BC18DEB4 CRC64;
MGGRGADAGS SGGTGPTEGY SPPAASTRAA ARAKARGGGR GGRRNTTPSV PSLRGAAPRS
FHPPAAMSER LRPRKRRRNG NEEDNHLPPQ TKRSSRNPVF QDSWDTESSG SDSGGSSSSS
SSSINSPDRA SGPEGSLSQT MAGSSPNTPQ PVPEQSALCQ GLYFHINQTL REAHFHSLQH
RGRPLT
//
ID T106A_HUMAN Reviewed; 262 AA.
AC Q96A25; A8K2X2; B7Z698;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 28-FEB-2018, entry version 115.
DE RecName: Full=Transmembrane protein 106A;
GN Name=TMEM106A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Umbilical cord blood;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Kidney, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96A25-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96A25-2; Sequence=VSP_056642;
CC Note=No experimental confirmation available.;
CC -!- SIMILARITY: Belongs to the TMEM106 family. {ECO:0000305}.
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DR EMBL; AK056132; BAB71101.1; -; mRNA.
DR EMBL; AK290387; BAF83076.1; -; mRNA.
DR EMBL; AK299974; BAH13184.1; -; mRNA.
DR EMBL; BC012139; AAH12139.1; -; mRNA.
DR EMBL; BC146974; AAI46975.1; -; mRNA.
DR EMBL; BC146976; AAI46977.1; -; mRNA.
DR EMBL; BC147023; AAI47024.1; -; mRNA.
DR EMBL; AC087365; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC109326; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471152; EAW60954.1; -; Genomic_DNA.
DR EMBL; BC157892; AAI57893.1; -; mRNA.
DR CCDS; CCDS11462.1; -. [Q96A25-1]
DR CCDS; CCDS74073.1; -. [Q96A25-2]
DR RefSeq; NP_001278515.1; NM_001291586.1. [Q96A25-1]
DR RefSeq; NP_001278516.1; NM_001291587.1. [Q96A25-2]
DR RefSeq; NP_659478.1; NM_145041.3. [Q96A25-1]
DR RefSeq; XP_006721721.1; XM_006721658.2. [Q96A25-1]
DR RefSeq; XP_006721722.1; XM_006721659.3. [Q96A25-2]
DR RefSeq; XP_016879603.1; XM_017024114.1. [Q96A25-2]
DR UniGene; Hs.536474; -.
DR ProteinModelPortal; Q96A25; -.
DR BioGrid; 125240; 47.
DR IntAct; Q96A25; 12.
DR iPTMnet; Q96A25; -.
DR PhosphoSitePlus; Q96A25; -.
DR BioMuta; TMEM106A; -.
DR DMDM; 74731081; -.
DR MaxQB; Q96A25; -.
DR PaxDb; Q96A25; -.
DR PeptideAtlas; Q96A25; -.
DR PRIDE; Q96A25; -.
DR DNASU; 113277; -.
DR Ensembl; ENST00000541594; ENSP00000439844; ENSG00000184988. [Q96A25-2]
DR Ensembl; ENST00000588659; ENSP00000466820; ENSG00000184988. [Q96A25-1]
DR Ensembl; ENST00000612339; ENSP00000483246; ENSG00000184988. [Q96A25-1]
DR GeneID; 113277; -.
DR KEGG; hsa:113277; -.
DR UCSC; uc002idn.2; human. [Q96A25-1]
DR CTD; 113277; -.
DR DisGeNET; 113277; -.
DR EuPathDB; HostDB:ENSG00000184988.8; -.
DR GeneCards; TMEM106A; -.
DR HGNC; HGNC:28288; TMEM106A.
DR neXtProt; NX_Q96A25; -.
DR OpenTargets; ENSG00000184988; -.
DR PharmGKB; PA142670755; -.
DR eggNOG; ENOG410IJ5J; Eukaryota.
DR eggNOG; ENOG410XUHT; LUCA.
DR GeneTree; ENSGT00390000013076; -.
DR HOGENOM; HOG000230966; -.
DR HOVERGEN; HBG055025; -.
DR InParanoid; Q96A25; -.
DR OMA; QMFYAVA; -.
DR OrthoDB; EOG091G0KDT; -.
DR PhylomeDB; Q96A25; -.
DR GeneWiki; TMEM106A; -.
DR GenomeRNAi; 113277; -.
DR PRO; PR:Q96A25; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000184988; -.
DR CleanEx; HS_TMEM106A; -.
DR ExpressionAtlas; Q96A25; baseline and differential.
DR Genevisible; Q96A25; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR InterPro; IPR009790; DUF1356_TMEM106.
DR PANTHER; PTHR28556; PTHR28556; 1.
DR Pfam; PF07092; DUF1356; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1 262 Transmembrane protein 106A.
FT /FTId=PRO_0000242137.
FT TRANSMEM 95 115 Helical. {ECO:0000255}.
FT VAR_SEQ 1 49 MGKTFSQLGSWREDENKSILSSKPAIGSKAVNYSSTGSSKS
FT FCSCVPCE -> M (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_056642.
SQ SEQUENCE 262 AA; 28920 MW; 306433230D5E8D8B CRC64;
MGKTFSQLGS WREDENKSIL SSKPAIGSKA VNYSSTGSSK SFCSCVPCEG TADASFVTCP
TCQGSGKIPQ ELEKQLVALI PYGDQRLKPK HTKLFVFLAV LICLVTSSFI VFFLFPRSVI
VQPAGLNSST VAFDEADIYL NITNILNISN GNYYPIMVTQ LTLEVLHLSL VVGQVSNNLL
LHIGPLASEQ MFYAVATKIR DENTYKICTW LEIKVHHVLL HIQGTLTCSY LSHSEQLVFQ
SYEYVDCRGN ASVPHQLTPH PP
//
ID CEP95_HUMAN Reviewed; 821 AA.
AC Q96GE4; B4DMD2; Q96M81;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 28-FEB-2018, entry version 116.
DE RecName: Full=Centrosomal protein of 95 kDa;
DE Short=Cep95;
DE AltName: Full=Coiled-coil domain-containing protein 45;
GN Name=CEP95; Synonyms=CCDC45, CEP45;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1-607 (ISOFORM 1).
RC TISSUE=Brain, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lymph;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-449; SER-451 AND
RP SER-453, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION.
RX PubMed=21399614; DOI=10.1038/emboj.2011.63;
RA Jakobsen L., Vanselow K., Skogs M., Toyoda Y., Lundberg E., Poser I.,
RA Falkenby L.G., Bennetzen M., Westendorf J., Nigg E.A., Uhlen M.,
RA Hyman A.A., Andersen J.S.;
RT "Novel asymmetrically localizing components of human centrosomes
RT identified by complementary proteomics methods.";
RL EMBO J. 30:1520-1535(2011).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-449 AND SER-451, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
CC -!- INTERACTION:
CC Q8IZU0:FAM9B; NbExp=3; IntAct=EBI-372775, EBI-10175124;
CC Q5JR59:MTUS2; NbExp=3; IntAct=EBI-372775, EBI-742948;
CC Q8NA61:SPERT; NbExp=3; IntAct=EBI-372775, EBI-741724;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule
CC organizing center, centrosome {ECO:0000269|PubMed:21399614}.
CC Cytoplasm, cytoskeleton, spindle pole
CC {ECO:0000269|PubMed:21399614}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96GE4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96GE4-2; Sequence=VSP_056356;
CC Note=No experimental confirmation available.;
CC -----------------------------------------------------------------------
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CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AK057326; BAB71428.1; -; mRNA.
DR EMBL; AK297409; BAG59844.1; -; mRNA.
DR EMBL; AC009994; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC009518; AAH09518.1; -; mRNA.
DR CCDS; CCDS45763.1; -. [Q96GE4-1]
DR RefSeq; NP_001303919.1; NM_001316990.1. [Q96GE4-2]
DR RefSeq; NP_612372.1; NM_138363.2. [Q96GE4-1]
DR UniGene; Hs.569713; -.
DR ProteinModelPortal; Q96GE4; -.
DR SMR; Q96GE4; -.
DR BioGrid; 124762; 20.
DR IntAct; Q96GE4; 24.
DR STRING; 9606.ENSP00000450461; -.
DR iPTMnet; Q96GE4; -.
DR PhosphoSitePlus; Q96GE4; -.
DR BioMuta; CEP95; -.
DR DMDM; 74751882; -.
DR EPD; Q96GE4; -.
DR MaxQB; Q96GE4; -.
DR PaxDb; Q96GE4; -.
DR PeptideAtlas; Q96GE4; -.
DR PRIDE; Q96GE4; -.
DR Ensembl; ENST00000556440; ENSP00000450461; ENSG00000258890. [Q96GE4-1]
DR GeneID; 90799; -.
DR KEGG; hsa:90799; -.
DR UCSC; uc002jem.4; human. [Q96GE4-1]
DR CTD; 90799; -.
DR DisGeNET; 90799; -.
DR EuPathDB; HostDB:ENSG00000258890.6; -.
DR GeneCards; CEP95; -.
DR HGNC; HGNC:25141; CEP95.
DR HPA; HPA023654; -.
DR HPA; HPA052426; -.
DR HPA; HPA052428; -.
DR HPA; HPA061371; -.
DR neXtProt; NX_Q96GE4; -.
DR OpenTargets; ENSG00000258890; -.
DR PharmGKB; PA142672162; -.
DR eggNOG; ENOG410IHYF; Eukaryota.
DR eggNOG; ENOG4110YN5; LUCA.
DR GeneTree; ENSGT00390000005412; -.
DR HOVERGEN; HBG056170; -.
DR InParanoid; Q96GE4; -.
DR KO; K16544; -.
DR OMA; RAPCPIG; -.
DR OrthoDB; EOG091G0MMH; -.
DR PhylomeDB; Q96GE4; -.
DR TreeFam; TF333224; -.
DR ChiTaRS; CEP95; human.
DR GenomeRNAi; 90799; -.
DR PRO; PR:Q96GE4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000258890; -.
DR CleanEx; HS_CCDC45; -.
DR ExpressionAtlas; Q96GE4; baseline and differential.
DR Genevisible; Q96GE4; HS.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0000922; C:spindle pole; IDA:UniProtKB.
DR Gene3D; 1.10.418.10; -; 1.
DR InterPro; IPR026619; CEP95.
DR InterPro; IPR036872; CH_dom_sf.
DR PANTHER; PTHR22545; PTHR22545; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Complete proteome; Cytoplasm;
KW Cytoskeleton; Phosphoprotein; Polymorphism; Reference proteome.
FT CHAIN 1 821 Centrosomal protein of 95 kDa.
FT /FTId=PRO_0000234505.
FT COILED 585 632 {ECO:0000255}.
FT COILED 700 794 {ECO:0000255}.
FT MOD_RES 449 449 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:21406692}.
FT MOD_RES 451 451 Phosphoserine.
FT {ECO:0000244|PubMed:18669648,
FT ECO:0000244|PubMed:21406692}.
FT MOD_RES 453 453 Phosphoserine.
FT {ECO:0000244|PubMed:18669648}.
FT VAR_SEQ 1 164 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_056356.
FT VARIANT 165 165 M -> I (in dbSNP:rs9910506).
FT /FTId=VAR_033666.
FT VARIANT 811 811 A -> V (in dbSNP:rs11550922).
FT /FTId=VAR_050751.
SQ SEQUENCE 821 AA; 95297 MW; 789AB2EF7E057F51 CRC64;
MAGSDAEWVT IANNLLFKCH IHLRIHELQD CDANVFIALY QSILGEKVPD LIVIPRSQED
DAHNVQAVID SLALDYLQVS LSHITGENIV KGDKESIKNL LEIFDGLLEY LTERISETSH
EKSETEQYFK ESDRGERLEE PESTKESKSS WKRVSFGRCS LSSEMLGPSW DGDEAESTGE
IIRLGDTAHT FSLRSNGAQC PNEMLSKKAL ASPSSKSHED MLYPPSVLSK SRTSFVEDTE
TLSVSGIPNA RKLGEPIRAA IPLHPPYHPS EPRAPCPIGK EYLHSSHCSP AVNSTGEHTE
FSGDLDDGLF LISKLPKGSK WEVYPAQVQG PRTRKPPKGK RNENRATASS CNSPFPQRPR
KRLTEQELHD VSEKLSQRLS ELDWMLKSAL GDRIKEKTDH KEENTGNEEV EDGTEETLSQ
HSDGIVEYGP KKSRPGLSMR RKPPYRSHSL SPSPVNKHKQ FHLERKRQRK PRETDVRQFQ
AQAFTEAFER ELRRHKVQEN IGPLRIHEKE EETEKIYRGE AVRKGTPECS QPWKIYSRKT
TTQSLRGGLP KPNKAVPMKV SEHSLLPLML EQFPFLYVSG PTLSKMWKQQ IAQVEQLKKE
ACRENRSKKK LQDEIEEALR RHDLLTTLVK KEYEHNKRLQ DFKDCIRRQR LTQSKIKENR
QQIVRARKYY DDYRVQLCAK MMRMRTREEM IFKKLFEEGL NIQKQRLRDL RNYAKEKRDE
QRRRHQDELD SMENYYKDQF SLLAEAISQE HQELKAREKS QAQTLHKVKR ELRSKMEKEI
QQLQDMITQN DDDVFFRELE AERFRSRLQL ASFQYSKSPS L
//
ID TRI47_HUMAN Reviewed; 638 AA.
AC Q96LD4; Q96AD0; Q96GU5; Q9BRN7;
DT 23-NOV-2004, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 2.
DT 28-FEB-2018, entry version 150.
DE RecName: Full=Tripartite motif-containing protein 47;
DE AltName: Full=Gene overexpressed in astrocytoma protein;
DE AltName: Full=RING finger protein 100;
GN Name=TRIM47; Synonyms=GOA, RNF100;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND CHROMOSOMAL LOCATION.
RC TISSUE=Astrocytoma;
RX PubMed=11511098; DOI=10.1006/bbrc.2001.5431;
RA Vandeputte D.A.A., Meije C.B., van Dartel M., Leenstra S.,
RA Ijlst-Keizers H., Das P.K., Troost D., Bosch D.A., Baas F.,
RA Hulsebos T.J.M.;
RT "GOA, a novel gene encoding a ring finger B-box coiled-coil protein,
RT is overexpressed in astrocytoma.";
RL Biochem. Biophys. Res. Commun. 286:574-579(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 236-638 (ISOFORM 1).
RC TISSUE=Lung, and Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-588, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P.,
RA Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in
RT signaling networks.";
RL Cell 127:635-648(2006).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-461, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=16964243; DOI=10.1038/nbt1240;
RA Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.;
RT "A probability-based approach for high-throughput protein
RT phosphorylation analysis and site localization.";
RL Nat. Biotechnol. 24:1285-1292(2006).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1 (ISOFORM 2), AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-588, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-588, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA Wang L., Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT liver phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [11]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-582, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Colon carcinoma;
RX PubMed=24129315; DOI=10.1074/mcp.O113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V.,
RA Aguiar M., Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C.,
RA Vemulapalli V., Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11511098}.
CC Nucleus {ECO:0000269|PubMed:11511098}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96LD4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96LD4-2; Sequence=VSP_055440;
CC Note=No experimental confirmation available. Contains a
CC N-acetylmethionine at position 1. {ECO:0000244|PubMed:22814378};
CC -!- TISSUE SPECIFICITY: Low expression in most tissues. Higher
CC expression in kidney tubular cells. Overexpressed in astrocytoma
CC tumor cells. {ECO:0000269|PubMed:11511098}.
CC -!- SIMILARITY: Belongs to the TRIM/RBCC family. {ECO:0000305}.
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DR EMBL; AY026763; AAK07687.1; -; mRNA.
DR EMBL; AC087289; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471099; EAW89332.1; -; Genomic_DNA.
DR EMBL; BC006153; AAH06153.1; -; mRNA.
DR EMBL; BC009225; AAH09225.2; -; mRNA.
DR EMBL; BC017299; AAH17299.1; -; mRNA.
DR CCDS; CCDS32737.1; -. [Q96LD4-1]
DR PIR; JC7753; JC7753.
DR RefSeq; NP_258411.2; NM_033452.2. [Q96LD4-1]
DR RefSeq; XP_005257844.1; XM_005257787.4. [Q96LD4-2]
DR RefSeq; XP_005257845.1; XM_005257788.4. [Q96LD4-2]
DR UniGene; Hs.293660; -.
DR ProteinModelPortal; Q96LD4; -.
DR SMR; Q96LD4; -.
DR BioGrid; 124794; 22.
DR IntAct; Q96LD4; 9.
DR STRING; 9606.ENSP00000254816; -.
DR iPTMnet; Q96LD4; -.
DR PhosphoSitePlus; Q96LD4; -.
DR BioMuta; TRIM47; -.
DR DMDM; 313104035; -.
DR EPD; Q96LD4; -.
DR MaxQB; Q96LD4; -.
DR PaxDb; Q96LD4; -.
DR PeptideAtlas; Q96LD4; -.
DR PRIDE; Q96LD4; -.
DR DNASU; 91107; -.
DR Ensembl; ENST00000254816; ENSP00000254816; ENSG00000132481. [Q96LD4-1]
DR GeneID; 91107; -.
DR KEGG; hsa:91107; -.
DR UCSC; uc002jpv.4; human. [Q96LD4-1]
DR CTD; 91107; -.
DR EuPathDB; HostDB:ENSG00000132481.6; -.
DR GeneCards; TRIM47; -.
DR H-InvDB; HIX0027215; -.
DR H-InvDB; HIX0202491; -.
DR HGNC; HGNC:19020; TRIM47.
DR HPA; HPA014933; -.
DR MIM; 611041; gene.
DR neXtProt; NX_Q96LD4; -.
DR OpenTargets; ENSG00000132481; -.
DR PharmGKB; PA134883590; -.
DR eggNOG; ENOG410IJ9G; Eukaryota.
DR eggNOG; ENOG41116W7; LUCA.
DR GeneTree; ENSGT00760000118995; -.
DR HOGENOM; HOG000231104; -.
DR HOVERGEN; HBG074469; -.
DR InParanoid; Q96LD4; -.
DR KO; K12023; -.
DR OMA; GPFSCPI; -.
DR OrthoDB; EOG091G055Y; -.
DR PhylomeDB; Q96LD4; -.
DR TreeFam; TF351086; -.
DR ChiTaRS; TRIM47; human.
DR GenomeRNAi; 91107; -.
DR PRO; PR:Q96LD4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000132481; -.
DR CleanEx; HS_TRIM47; -.
DR ExpressionAtlas; Q96LD4; baseline and differential.
DR Genevisible; Q96LD4; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR CDD; cd00021; BBOX; 1.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR001870; B30.2/SPRY.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR000315; Znf_B-box.
DR InterPro; IPR001841; Znf_RING.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR InterPro; IPR017907; Znf_RING_CS.
DR Pfam; PF00643; zf-B_box; 1.
DR SMART; SM00336; BBOX; 1.
DR SMART; SM00184; RING; 1.
DR SUPFAM; SSF49899; SSF49899; 1.
DR PROSITE; PS50188; B302_SPRY; 1.
DR PROSITE; PS50119; ZF_BBOX; 1.
DR PROSITE; PS00518; ZF_RING_1; 1.
DR PROSITE; PS50089; ZF_RING_2; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Coiled coil; Complete proteome;
KW Cytoplasm; Metal-binding; Methylation; Nucleus; Phosphoprotein;
KW Polymorphism; Reference proteome; Zinc; Zinc-finger.
FT CHAIN 1 638 Tripartite motif-containing protein 47.
FT /FTId=PRO_0000056270.
FT DOMAIN 410 631 B30.2/SPRY. {ECO:0000255|PROSITE-
FT ProRule:PRU00548}.
FT ZN_FING 9 58 RING-type. {ECO:0000255|PROSITE-
FT ProRule:PRU00175}.
FT ZN_FING 177 217 B box-type. {ECO:0000255|PROSITE-
FT ProRule:PRU00024}.
FT COILED 296 324 {ECO:0000255}.
FT COMPBIAS 85 126 Pro-rich.
FT COMPBIAS 272 277 Poly-Ala.
FT MOD_RES 72 72 Phosphothreonine.
FT {ECO:0000250|UniProtKB:Q8C0E3}.
FT MOD_RES 461 461 Phosphoserine.
FT {ECO:0000244|PubMed:16964243}.
FT MOD_RES 582 582 Omega-N-methylarginine.
FT {ECO:0000244|PubMed:24129315}.
FT MOD_RES 588 588 Phosphoserine.
FT {ECO:0000244|PubMed:17081983,
FT ECO:0000244|PubMed:23186163,
FT ECO:0000244|PubMed:24275569}.
FT VAR_SEQ 1 238 Missing (in isoform 2).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_055440.
FT VARIANT 500 500 E -> A (in dbSNP:rs1047043).
FT /FTId=VAR_057223.
SQ SEQUENCE 638 AA; 69532 MW; F524910DFC5CDF28 CRC64;
MDGSGPFSCP ICLEPLREPV TLPCGHNFCL ACLGALWPHR GASGAGGPGG AARCPLCQEP
FPDGLQLRKN HTLSELLQLR QGSGPGSGPG PAPALAPEPS APSALPSVPE PSAPCAPEPW
PAGEEPVRCD ACPEGAALPA ALSCLSCLAS FCPAHLGPHE RSPALRGHRL VPPLRRLEES
LCPRHLRPLE RYCRAERVCL CEACAAQEHR GHELVPLEQE RALQEAEQSK VLSAVEDRMD
ELGAGIAQSR RTVALIKSAA VAERERVSRL FADAAAALQG FQTQVLGFIE EGEAAMLGRS
QGDLRRQEEQ RSRLSRARQN LSQVPEADSV SFLQELLALR LALEDGCGPG PGPPRELSFT
KSSQAVRAVR DMLAVACVNQ WEQLRGPGGN EDGPQKLDSE ADAEPQDLES TNLLESEAPR
DYFLKFAYIV DLDSDTADKF LQLFGTKGVK RVLCPINYPL SPTRFTHCEQ VLGEGALDRG
TYYWEVEIIE GWVSMGVMAE DFSPQEPYDR GRLGRNAHSC CLQWNGRSFS VWFHGLEAPL
PHPFSPTVGV CLEYADRALA FYAVRDGKMS LLRRLKASRP RRGGIPASPI DPFQSRLDSH
FAGLFTHRLK PAFFLESVDA HLQIGPLKKS CISVLKRR
//
ID C295L_HUMAN Reviewed; 621 AA.
AC Q96MC4;
DT 01-MAY-2013, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 28-MAR-2018, entry version 100.
DE RecName: Full=CEP295 N-terminal-like protein {ECO:0000305};
DE AltName: Full=KIAA1731 N-terminal like protein {ECO:0000312|HGNC:HGNC:44659};
GN Name=CEP295NL {ECO:0000312|HGNC:HGNC:44659};
GN Synonyms=KIAA1731NL {ECO:0000312|HGNC:HGNC:44659};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}.
CC Note=Colocalizes to the motile cilium of mature spermatozoa.
CC {ECO:0000250}.
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DR EMBL; AK057217; BAB71383.1; -; mRNA.
DR EMBL; AC022966; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC100788; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS58603.1; -.
DR RefSeq; NP_001230469.1; NM_001243540.1.
DR RefSeq; NP_001230470.1; NM_001243541.1.
DR UniGene; Hs.734636; -.
DR ProteinModelPortal; Q96MC4; -.
DR SMR; Q96MC4; -.
DR BioGrid; 1530759; 1.
DR STRING; 9606.ENSP00000312767; -.
DR iPTMnet; Q96MC4; -.
DR PhosphoSitePlus; Q96MC4; -.
DR BioMuta; DDC8; -.
DR DMDM; 74732346; -.
DR PaxDb; Q96MC4; -.
DR PeptideAtlas; Q96MC4; -.
DR PRIDE; Q96MC4; -.
DR Ensembl; ENST00000322630; ENSP00000312767; ENSG00000178404.
DR Ensembl; ENST00000619342; ENSP00000483863; ENSG00000178404.
DR GeneID; 100653515; -.
DR KEGG; hsa:100653515; -.
DR UCSC; uc002jwg.3; human.
DR CTD; 100653515; -.
DR EuPathDB; HostDB:ENSG00000178404.9; -.
DR GeneCards; CEP295NL; -.
DR HGNC; HGNC:44659; CEP295NL.
DR HPA; HPA023609; -.
DR HPA; HPA024619; -.
DR HPA; HPA025717; -.
DR neXtProt; NX_Q96MC4; -.
DR OpenTargets; ENSG00000178404; -.
DR eggNOG; ENOG410IDYA; Eukaryota.
DR eggNOG; ENOG4111B0S; LUCA.
DR GeneTree; ENSGT00540000072076; -.
DR HOGENOM; HOG000134228; -.
DR HOVERGEN; HBG053459; -.
DR InParanoid; Q96MC4; -.
DR OMA; IHYKAEL; -.
DR OrthoDB; EOG091G06J1; -.
DR PhylomeDB; Q96MC4; -.
DR TreeFam; TF331536; -.
DR GenomeRNAi; 100653515; -.
DR PRO; PR:Q96MC4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000178404; -.
DR ExpressionAtlas; Q96MC4; baseline and differential.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Coiled coil; Complete proteome;
KW Reference proteome.
FT CHAIN 1 621 CEP295 N-terminal-like protein.
FT /FTId=PRO_0000422183.
FT COILED 328 359 {ECO:0000255}.
FT COILED 498 525 {ECO:0000255}.
SQ SEQUENCE 621 AA; 69839 MW; A388BC29EC45F287 CRC64;
MCSGWSSSVI WRHTQFAVER CGFCGSSGPG APLEPSTLGS KHLPWEAVSA GFADRNRNMD
GAMWLSLCPD NEDLLWRKKH KLLQARGKGD LALQRRADAK LWKNYQLQRL AEELRRGYQE
AQHLHVGGLD RLQSARLLGW GGGRARENEP DSQGPIQRRS ARPPRAKEKH RAALSEERSC
REELGQQHPR HSRPRKTAAS PEKPQTTKAT GRMNSHLAPP EKRKGRPEPS TKSGGGRCAI
HPRRSKGADL ERSNPLVAAV GEIGLVEEKE KGTARAGRRQ LGKGAVCFVP ALTSRSQGQS
LEGKLRDLGQ LWPADSSCRR EAVSPASQCT LREKNKWQKE LELAFEELFN INRKLKKHLC
LYLALKPRMD QRPGEGHAFS EMQECGAGTP RGKKMADPEM LPAGEPRSPA EEEAQQAASK
TDLKTFMGKA QNQKYQGTVK PTFRNGSQTL SPEAGIFINK EDSLLYSTES GQETPKLGTL
AEGSLQLHLQ DQADRVGSTA SRQRQKAEME QRRQKQLESL EQMEHPDMSL EIHYKAELEK
ERREQRRARL AHLKSSSTRA QERERGSELS TTSPSGTSLA DDDRHSQMIR DQQQQILQQN
RLHKQFLEEA RKCLREFQNI C
//
ID CCD43_HUMAN Reviewed; 224 AA.
AC Q96MW1; C9JVK9;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 28-FEB-2018, entry version 105.
DE RecName: Full=Coiled-coil domain-containing protein 43;
GN Name=CCDC43;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Small intestine;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-139, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-139, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-139, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-139, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [10]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-95, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25114211; DOI=10.1073/pnas.1413825111;
RA Impens F., Radoshevich L., Cossart P., Ribet D.;
RT "Mapping of SUMO sites and analysis of SUMOylation changes induced by
RT external stimuli.";
RL Proc. Natl. Acad. Sci. U.S.A. 111:12432-12437(2014).
CC -!- INTERACTION:
CC O95198:KLHL2; NbExp=3; IntAct=EBI-9247198, EBI-746999;
CC Q9BSI4:TINF2; NbExp=2; IntAct=EBI-9247198, EBI-717399;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96MW1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96MW1-2; Sequence=VSP_040750;
CC -!- SIMILARITY: Belongs to the CCDC43 family. {ECO:0000305}.
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CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AK056357; BAB71162.1; -; mRNA.
DR EMBL; BX648868; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC091152; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS45704.1; -. [Q96MW1-1]
DR CCDS; CCDS45705.1; -. [Q96MW1-2]
DR RefSeq; NP_001092695.1; NM_001099225.1. [Q96MW1-2]
DR RefSeq; NP_653210.2; NM_144609.2. [Q96MW1-1]
DR UniGene; Hs.579115; -.
DR ProteinModelPortal; Q96MW1; -.
DR SMR; Q96MW1; -.
DR BioGrid; 125890; 9.
DR IntAct; Q96MW1; 3.
DR STRING; 9606.ENSP00000323782; -.
DR iPTMnet; Q96MW1; -.
DR PhosphoSitePlus; Q96MW1; -.
DR BioMuta; CCDC43; -.
DR DMDM; 296434426; -.
DR EPD; Q96MW1; -.
DR MaxQB; Q96MW1; -.
DR PaxDb; Q96MW1; -.
DR PeptideAtlas; Q96MW1; -.
DR PRIDE; Q96MW1; -.
DR DNASU; 124808; -.
DR Ensembl; ENST00000315286; ENSP00000323782; ENSG00000180329. [Q96MW1-1]
DR Ensembl; ENST00000457422; ENSP00000400845; ENSG00000180329. [Q96MW1-2]
DR GeneID; 124808; -.
DR KEGG; hsa:124808; -.
DR UCSC; uc002ihc.3; human. [Q96MW1-1]
DR CTD; 124808; -.
DR EuPathDB; HostDB:ENSG00000180329.13; -.
DR GeneCards; CCDC43; -.
DR H-InvDB; HIX0039024; -.
DR HGNC; HGNC:26472; CCDC43.
DR HPA; HPA023391; -.
DR neXtProt; NX_Q96MW1; -.
DR OpenTargets; ENSG00000180329; -.
DR PharmGKB; PA142672160; -.
DR eggNOG; ENOG410IXU7; Eukaryota.
DR eggNOG; ENOG4111JC7; LUCA.
DR GeneTree; ENSGT00390000015009; -.
DR HOGENOM; HOG000231398; -.
DR HOVERGEN; HBG059861; -.
DR InParanoid; Q96MW1; -.
DR PhylomeDB; Q96MW1; -.
DR TreeFam; TF324859; -.
DR ChiTaRS; CCDC43; human.
DR GenomeRNAi; 124808; -.
DR PRO; PR:Q96MW1; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000180329; -.
DR CleanEx; HS_CCDC43; -.
DR ExpressionAtlas; Q96MW1; baseline and differential.
DR Genevisible; Q96MW1; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR InterPro; IPR037666; CCDC43.
DR PANTHER; PTHR31684; PTHR31684; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Complete proteome; Isopeptide bond;
KW Phosphoprotein; Reference proteome; Ubl conjugation.
FT CHAIN 1 224 Coiled-coil domain-containing protein 43.
FT /FTId=PRO_0000234500.
FT COILED 121 145 {ECO:0000255}.
FT COILED 177 218 {ECO:0000255}.
FT COMPBIAS 13 23 Poly-Gly.
FT COMPBIAS 50 55 Poly-Glu.
FT MOD_RES 139 139 Phosphothreonine.
FT {ECO:0000244|PubMed:19690332,
FT ECO:0000244|PubMed:20068231,
FT ECO:0000244|PubMed:21406692,
FT ECO:0000244|PubMed:23186163}.
FT CROSSLNK 95 95 Glycyl lysine isopeptide (Lys-Gly)
FT (interchain with G-Cter in SUMO1).
FT {ECO:0000244|PubMed:25114211}.
FT VAR_SEQ 144 224 EADEKDDSGATTMNIGSDKLLFRNTNVEDVLNARKLERDSL
FT RDESQRKKEQDKLQRERDKLAKQERKEKEKKRTQRGERKR
FT -> SVPKHQCGRCP (in isoform 2).
FT {ECO:0000303|PubMed:17974005}.
FT /FTId=VSP_040750.
FT CONFLICT 174 174 L -> F (in Ref. 1; BAB71162).
FT {ECO:0000305}.
SQ SEQUENCE 224 AA; 25248 MW; ED4E1CB196FEEFA7 CRC64;
MAAPSEVAAI APGEGDGGGG GFGSWLDGRL EALGVDRAVY GAYILGILQE EEEEEKLDAL
QGILSAFLEE DSLLNICKEI VERWSETQNV VTKVKKEDEV QAIATLIEKQ AQIVVKPRMV
SEEEKQRKAA LLAQYADVTD EEDEADEKDD SGATTMNIGS DKLLFRNTNV EDVLNARKLE
RDSLRDESQR KKEQDKLQRE RDKLAKQERK EKEKKRTQRG ERKR
//
ID AP4AT_HUMAN Reviewed; 525 AA.
AC Q96N21; Q6ZQU0; Q6ZSQ9;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 28-FEB-2018, entry version 120.
DE RecName: Full=AP-4 complex accessory subunit Tepsin {ECO:0000305};
DE AltName: Full=ENTH domain-containing protein 2 {ECO:0000312|HGNC:HGNC:26458};
DE AltName: Full=Epsin for AP-4;
DE AltName: Full=Tetra-epsin {ECO:0000303|PubMed:22472443};
GN Name=TEPSIN {ECO:0000303|PubMed:22472443,
GN ECO:0000312|HGNC:HGNC:26458};
GN Synonyms=C17orf56 {ECO:0000312|HGNC:HGNC:26458},
GN ENTHD2 {ECO:0000312|HGNC:HGNC:26458};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Hippocampus, Teratocarcinoma, and Uterus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-356, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18220336; DOI=10.1021/pr0705441;
RA Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D.,
RA Yates J.R. III;
RT "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for
RT efficient phosphoproteomic analysis.";
RL J. Proteome Res. 7:1346-1351(2008).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-333 AND SER-356, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of
RT the kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-356, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [6]
RP FUNCTION, INTERACTION WITH AP4B1, SUBUNIT, SUBCELLULAR LOCATION, AND
RP TOPOLOGY.
RX PubMed=22472443; DOI=10.1083/jcb.201111049;
RA Borner G.H., Antrobus R., Hirst J., Bhumbra G.S., Kozik P.,
RA Jackson L.P., Sahlender D.A., Robinson M.S.;
RT "Multivariate proteomic profiling identifies novel accessory proteins
RT of coated vesicles.";
RL J. Cell Biol. 197:141-160(2012).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-333 AND SER-356, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [8]
RP FUNCTION, INTERACTION WITH AP4B1 AND AP4E1, SUBCELLULAR LOCATION,
RP REGION, AND MUTAGENESIS OF ARG-467; ASP-468; SER-469; LEU-470;
RP PHE-471; ALA-472; GLY-473; MET-474; GLU-475; LEU-476; VAL-477;
RP GLU-516; PRO-517; SER-518; ALA-519; PHE-520; ALA-521; PHE-522;
RP LEU-523; ASN-524 AND ALA-525.
RX PubMed=26542808; DOI=10.1074/jbc.M115.683409;
RA Mattera R., Guardia C.M., Sidhu S.S., Bonifacino J.S.;
RT "Bivalent motif-ear interactions mediate the association of the
RT accessory protein tepsin with the AP-4 adaptor complex.";
RL J. Biol. Chem. 290:30736-30749(2015).
RN [9]
RP INTERACTION WITH AP4B1, SUBCELLULAR LOCATION, TOPOLOGY, REGION, AND
RP MUTAGENESIS OF LEU-470; PHE-471; GLY-473; MET-474; LEU-476 AND
RP VAL-477.
RX PubMed=26756312; DOI=10.1111/tra.12375;
RA Frazier M.N., Davies A.K., Voehler M., Kendall A.K., Borner G.H.,
RA Chazin W.J., Robinson M.S., Jackson L.P.;
RT "Molecular basis for the interaction between AP4 beta4 and its
RT accessory protein, tepsin.";
RL Traffic 17:400-415(2016).
CC -!- FUNCTION: Associates with the adapter-like complex 4 (AP-4) and
CC may therefore play a role in vesicular trafficking of proteins at
CC the trans-Golgi network. {ECO:0000305|PubMed:22472443,
CC ECO:0000305|PubMed:26542808}.
CC -!- SUBUNIT: Interacts with AP4B1 and AP4E1; the interaction is direct
CC and mediates the association of TEPSIN with the adapter-like
CC complex 4 (AP-4), a heterotetramer composed of AP4B1, AP4E1, AP4M1
CC and AP4S1. {ECO:0000269|PubMed:22472443,
CC ECO:0000269|PubMed:26542808, ECO:0000269|PubMed:26756312}.
CC -!- INTERACTION:
CC Q9NP55:BPIFA1; NbExp=4; IntAct=EBI-11139477, EBI-953896;
CC Q9Y2F9:BTBD3; NbExp=4; IntAct=EBI-11139477, EBI-311155;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network
CC membrane {ECO:0000269|PubMed:26542808,
CC ECO:0000269|PubMed:26756312}; Peripheral membrane protein
CC {ECO:0000269|PubMed:26756312}. Cytoplasmic vesicle
CC {ECO:0000269|PubMed:22472443}. Cytoplasm, cytosol
CC {ECO:0000269|PubMed:22472443}. Note=Extensively colocalizes with
CC AP-4 which mediates the recruitment of TEPSIN to the trans-Golgi
CC network. {ECO:0000269|PubMed:22472443,
CC ECO:0000269|PubMed:26542808}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96N21-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96N21-2; Sequence=VSP_025141, VSP_025142;
CC Note=Ref.1 (BAC87593) sequence is in conflict in position:
CC 22:R->H. {ECO:0000305};
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AK056090; BAB71091.1; -; mRNA.
DR EMBL; AK127221; BAC86888.1; -; mRNA.
DR EMBL; AK128728; BAC87593.1; -; mRNA.
DR EMBL; BC064483; AAH64483.1; -; mRNA.
DR CCDS; CCDS11779.1; -. [Q96N21-1]
DR RefSeq; NP_653280.1; NM_144679.2. [Q96N21-1]
DR RefSeq; XP_006721775.1; XM_006721712.2. [Q96N21-2]
DR UniGene; Hs.631761; -.
DR PDB; 5WF9; X-ray; 1.80 A; A=1-153.
DR PDB; 5WFB; X-ray; 1.38 A; A/B=1-140.
DR PDBsum; 5WF9; -.
DR PDBsum; 5WFB; -.
DR ProteinModelPortal; Q96N21; -.
DR SMR; Q96N21; -.
DR BioGrid; 127002; 37.
DR IntAct; Q96N21; 51.
DR STRING; 9606.ENSP00000300714; -.
DR iPTMnet; Q96N21; -.
DR PhosphoSitePlus; Q96N21; -.
DR BioMuta; ENTHD2; -.
DR DMDM; 74732479; -.
DR EPD; Q96N21; -.
DR MaxQB; Q96N21; -.
DR PaxDb; Q96N21; -.
DR PeptideAtlas; Q96N21; -.
DR PRIDE; Q96N21; -.
DR Ensembl; ENST00000300714; ENSP00000300714; ENSG00000167302. [Q96N21-1]
DR GeneID; 146705; -.
DR KEGG; hsa:146705; -.
DR UCSC; uc002jzu.2; human. [Q96N21-1]
DR CTD; 146705; -.
DR DisGeNET; 146705; -.
DR EuPathDB; HostDB:ENSG00000167302.9; -.
DR GeneCards; TEPSIN; -.
DR H-InvDB; HIX0014244; -.
DR H-InvDB; HIX0014245; -.
DR HGNC; HGNC:26458; TEPSIN.
DR HPA; HPA063410; -.
DR neXtProt; NX_Q96N21; -.
DR OpenTargets; ENSG00000167302; -.
DR PharmGKB; PA142672239; -.
DR eggNOG; ENOG410IEKN; Eukaryota.
DR eggNOG; ENOG410ZYSQ; LUCA.
DR GeneTree; ENSGT00390000015076; -.
DR HOGENOM; HOG000049246; -.
DR HOVERGEN; HBG064281; -.
DR InParanoid; Q96N21; -.
DR OrthoDB; EOG091G03PK; -.
DR PhylomeDB; Q96N21; -.
DR TreeFam; TF331354; -.
DR ChiTaRS; TEPSIN; human.
DR GenomeRNAi; 146705; -.
DR PRO; PR:Q96N21; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000167302; -.
DR CleanEx; HS_C17orf56; -.
DR ExpressionAtlas; Q96N21; baseline and differential.
DR Genevisible; Q96N21; HS.
DR GO; GO:0030124; C:AP-4 adaptor complex; IEA:Ensembl.
DR GO; GO:0030662; C:coated vesicle membrane; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
DR GO; GO:0031312; C:extrinsic component of organelle membrane; IDA:UniProtKB.
DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
DR GO; GO:0031965; C:nuclear membrane; IDA:HPA.
DR GO; GO:0016607; C:nuclear speck; IDA:HPA.
DR GO; GO:0032588; C:trans-Golgi network membrane; IDA:UniProtKB.
DR CDD; cd03572; ENTH_epsin_related; 1.
DR Gene3D; 1.25.40.90; -; 1.
DR InterPro; IPR013809; ENTH.
DR InterPro; IPR035802; ENTH/VHS_tepsin.
DR InterPro; IPR008942; ENTH_VHS.
DR Pfam; PF01417; ENTH; 1.
DR SUPFAM; SSF48464; SSF48464; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Complete proteome; Cytoplasm;
KW Cytoplasmic vesicle; Golgi apparatus; Membrane; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1 525 AP-4 complex accessory subunit Tepsin.
FT /FTId=PRO_0000286678.
FT DOMAIN 8 141 ENTH.
FT REGION 467 477 Interaction with AP4B1.
FT {ECO:0000269|PubMed:26542808,
FT ECO:0000269|PubMed:26756312}.
FT REGION 515 525 Interaction with AP4E1.
FT {ECO:0000269|PubMed:26542808}.
FT COMPBIAS 193 225 Ser-rich.
FT COMPBIAS 365 431 Pro-rich.
FT MOD_RES 333 333 Phosphoserine.
FT {ECO:0000244|PubMed:18691976,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 356 356 Phosphoserine.
FT {ECO:0000244|PubMed:18220336,
FT ECO:0000244|PubMed:18691976,
FT ECO:0000244|PubMed:20068231,
FT ECO:0000244|PubMed:23186163}.
FT VAR_SEQ 1 85 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_025141.
FT VAR_SEQ 86 175 FFLLILKRNSAFIQEAAAFAGPPDPLHGNSLYQKVRAAAQD
FT LGSTLFSDTVLPLAPSQPLGTPPATGMGSQARPHSTLQGFG
FT YSKEHGRT -> MGSQARPHSTLQGFGYSKEHGRTGSAGEA
FT FLSTIQKAAEVVASAMRPGPESPSTRRLLPRGDTYQPAMMP
FT SASHGPPTLGNLLPGAIPGPR (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_025142.
FT MUTAGEN 467 467 R->A: No effect on interaction with AP4B1
FT in vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 468 468 D->A: No effect on interaction with AP4B1
FT in vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 469 469 S->A,P: No effect on interaction with
FT AP4B1 in vitro.
FT {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 470 470 L->A: Loss of interaction with AP4B1 n
FT vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 470 470 L->S: Loss of interaction with AP4B1 in
FT vitro; when associated with S-471.
FT {ECO:0000269|PubMed:26756312}.
FT MUTAGEN 471 471 F->A: Loss of interaction with AP4B1 in
FT vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 471 471 F->S: Loss of interaction with AP4B1 in
FT vitro; when associated with S-470.
FT {ECO:0000269|PubMed:26756312}.
FT MUTAGEN 472 472 A->D,P: No effect on interaction with
FT AP4B1 in vitro.
FT {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 473 473 G->A: No effect on interaction with AP4B1
FT in vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 473 473 G->I: Loss of interaction with AP4B1 in
FT vitro; when associated with Q-474.
FT {ECO:0000269|PubMed:26756312}.
FT MUTAGEN 474 474 M->A: Decreased interaction with AP4B1 in
FT vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 474 474 M->D: Decreased interaction with AP4B1 in
FT vitro; when associated with A-476.
FT {ECO:0000269|PubMed:26756312}.
FT MUTAGEN 474 474 M->Q: Loss of interaction with AP4B1 in
FT vitro; when associated with I-473.
FT {ECO:0000269|PubMed:26756312}.
FT MUTAGEN 475 475 E->A: No effect on interaction with AP4B1
FT in vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 476 476 L->A: No effect on interaction with AP4B1
FT in vitro. Decreased interaction with
FT AP4B1; when associated with D-474.
FT {ECO:0000269|PubMed:26542808,
FT ECO:0000269|PubMed:26756312}.
FT MUTAGEN 476 476 L->S: Decreased interaction with AP4B1 in
FT vitro; when associated with S-477.
FT {ECO:0000269|PubMed:26756312}.
FT MUTAGEN 477 477 V->A: No effect on interaction with AP4B1
FT in vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 477 477 V->S: Decreased interaction with AP4B1 in
FT vitro; when associated with S-476.
FT {ECO:0000269|PubMed:26756312}.
FT MUTAGEN 516 516 E->A: No effect on interaction with AP4E1
FT in vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 517 517 P->A: No effect on interaction with AP4E1
FT in vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 518 518 S->A: Loss of interaction with AP4E1 in
FT vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 519 519 A->D: Loss of interaction with AP4E1 in
FT vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 520 520 F->A: Loss of interaction with AP4E1 in
FT vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 521 521 A->D: No effect on interaction with AP4E1
FT in vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 522 522 F->A: Loss of interaction with AP4E1 in
FT vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 523 523 L->A: Loss of interaction with AP4E1 in
FT vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 524 524 N->A: Decreased interaction with AP4E1 in
FT vitro. {ECO:0000269|PubMed:26542808}.
FT MUTAGEN 525 525 A->D: No effect on interaction with AP4E1
FT in vitro. {ECO:0000269|PubMed:26542808}.
FT HELIX 7 24 {ECO:0000244|PDB:5WFB}.
FT STRAND 26 29 {ECO:0000244|PDB:5WFB}.
FT HELIX 35 45 {ECO:0000244|PDB:5WFB}.
FT HELIX 47 63 {ECO:0000244|PDB:5WFB}.
FT HELIX 66 82 {ECO:0000244|PDB:5WFB}.
FT HELIX 85 93 {ECO:0000244|PDB:5WFB}.
FT HELIX 95 102 {ECO:0000244|PDB:5WFB}.
FT TURN 110 112 {ECO:0000244|PDB:5WFB}.
FT HELIX 115 131 {ECO:0000244|PDB:5WFB}.
SQ SEQUENCE 525 AA; 55137 MW; B79970A37B801549 CRC64;
MAAAPPLRDR LSFLHRLPIL LKGTSDDDVP CPGYLFEEIA KISHESPGSS QCLLEYLLSR
LHSSSGHGKL KVLKILLYLC SHGSSFFLLI LKRNSAFIQE AAAFAGPPDP LHGNSLYQKV
RAAAQDLGST LFSDTVLPLA PSQPLGTPPA TGMGSQARPH STLQGFGYSK EHGRTAVRHQ
PGQAGGGWDE LDSGPSSQNS SQNSDLSRVS DSGSHSGSDS HSGASREPGD LAERVEVVAL
SDCQQELSLV RTVTRGPRAF LSREEAQHFI KACGLLNCEA VLQLLTCHLR GTSECTQLRA
LCAIASLGSS DLLPQEHILL RTRPWLQELS MGSPGPVTNK ATKILRHFEA SCGQLSPARG
TSAEPGPTAA LPGPSDLLTD AVPLPGSQVF LQPLSSTPVS SRSPAPSSGM PSSPVPTPPP
DASPIPAPGD PSEAEARLAE SRRWRPERIP GGTDSPKRGP SSCAWSRDSL FAGMELVACP
RLVGAGAAAG ESCPDAPRAP QTSSQRTAAK EPPGSEPSAF AFLNA
//
ID LR37B_HUMAN Reviewed; 947 AA.
AC Q96QE4; Q17RC9; Q5YKG6;
DT 18-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 28-FEB-2018, entry version 125.
DE RecName: Full=Leucine-rich repeat-containing protein 37B;
DE AltName: Full=C66 SLIT-like testicular protein;
DE Flags: Precursor;
GN Name=LRRC37B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=10843809; DOI=10.1006/geno.2000.6179;
RA Jenne D.E., Tinschert S., Stegmann E., Reimann H., Nuernberg P.,
RA Horn D., Naumann I., Buske A., Thiel G.;
RT "A common set of at least 11 functional genes is lost in the majority
RT of NF1 patients with gross deletions.";
RL Genomics 66:93-97(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RA Wolkowicz M.J., Shetty J., Herr J.C.;
RL Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Liver;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96QE4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96QE4-2; Sequence=VSP_054513;
CC Note=No experimental confirmation available.;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAR28082.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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DR EMBL; AJ314647; CAC44536.1; -; mRNA.
DR EMBL; AY386261; AAR28082.1; ALT_INIT; mRNA.
DR EMBL; AC090616; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC117373; AAI17374.1; -; mRNA.
DR EMBL; BC143581; AAI43582.1; -; mRNA.
DR CCDS; CCDS32609.1; -. [Q96QE4-1]
DR RefSeq; NP_443120.2; NM_052888.2. [Q96QE4-1]
DR UniGene; Hs.514071; -.
DR UniGene; Hs.568209; -.
DR UniGene; Hs.738806; -.
DR UniGene; Hs.744157; -.
DR ProteinModelPortal; Q96QE4; -.
DR BioGrid; 125332; 1.
DR STRING; 9606.ENSP00000340519; -.
DR iPTMnet; Q96QE4; -.
DR PhosphoSitePlus; Q96QE4; -.
DR BioMuta; LRRC37B; -.
DR DMDM; 296439308; -.
DR PaxDb; Q96QE4; -.
DR PeptideAtlas; Q96QE4; -.
DR PRIDE; Q96QE4; -.
DR DNASU; 114659; -.
DR Ensembl; ENST00000341671; ENSP00000340519; ENSG00000185158. [Q96QE4-1]
DR Ensembl; ENST00000394713; ENSP00000378202; ENSG00000185158. [Q96QE4-1]
DR GeneID; 114659; -.
DR KEGG; hsa:114659; -.
DR UCSC; uc060dst.1; human. [Q96QE4-1]
DR CTD; 114659; -.
DR DisGeNET; 114659; -.
DR EuPathDB; HostDB:ENSG00000185158.12; -.
DR GeneCards; LRRC37B; -.
DR H-InvDB; HIX0039097; -.
DR H-InvDB; HIX0039456; -.
DR HGNC; HGNC:29070; LRRC37B.
DR HPA; HPA015134; -.
DR HPA; HPA015135; -.
DR MIM; 616558; gene.
DR neXtProt; NX_Q96QE4; -.
DR OpenTargets; ENSG00000185158; -.
DR PharmGKB; PA142671525; -.
DR eggNOG; ENOG410IJNR; Eukaryota.
DR eggNOG; ENOG410YV94; LUCA.
DR GeneTree; ENSGT00530000063282; -.
DR HOGENOM; HOG000293202; -.
DR HOVERGEN; HBG060837; -.
DR InParanoid; Q96QE4; -.
DR PhylomeDB; Q96QE4; -.
DR TreeFam; TF341959; -.
DR ChiTaRS; LRRC37B; human.
DR GenomeRNAi; 114659; -.
DR PRO; PR:Q96QE4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000185158; -.
DR CleanEx; HS_LRRC37B; -.
DR ExpressionAtlas; Q96QE4; baseline and differential.
DR Genevisible; Q96QE4; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR015753; LRRC37.
DR InterPro; IPR032754; LRRC37_N.
DR InterPro; IPR029423; LRRC37AB_C.
DR PANTHER; PTHR23045; PTHR23045; 2.
DR Pfam; PF13855; LRR_8; 1.
DR Pfam; PF15779; LRRC37; 2.
DR Pfam; PF14914; LRRC37AB_C; 1.
DR SMART; SM00369; LRR_TYP; 4.
DR PROSITE; PS51450; LRR; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Complete proteome; Glycoprotein;
KW Leucine-rich repeat; Membrane; Reference proteome; Repeat; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1 27 {ECO:0000255}.
FT CHAIN 28 947 Leucine-rich repeat-containing protein
FT 37B.
FT /FTId=PRO_0000232653.
FT TOPO_DOM 28 905 Extracellular. {ECO:0000255}.
FT TRANSMEM 906 926 Helical. {ECO:0000255}.
FT TOPO_DOM 927 947 Cytoplasmic. {ECO:0000255}.
FT REPEAT 556 577 LRR 1.
FT REPEAT 580 601 LRR 2.
FT REPEAT 604 625 LRR 3.
FT REPEAT 628 649 LRR 4.
FT REPEAT 655 676 LRR 5.
FT REPEAT 679 699 LRR 6.
FT COILED 867 897 {ECO:0000255}.
FT CARBOHYD 358 358 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT CARBOHYD 789 789 N-linked (GlcNAc...) asparagine.
FT {ECO:0000255}.
FT VAR_SEQ 608 658 Missing (in isoform 2).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_054513.
FT CONFLICT 6 24 FWGPWPLLTWQLLSLLVKE -> ITAMAPPYVATIVFTSQG
FT (in Ref. 1; CAC44536). {ECO:0000305}.
FT CONFLICT 198 198 E -> G (in Ref. 2; AAR28082).
FT {ECO:0000305}.
FT CONFLICT 336 336 Y -> H (in Ref. 2; AAR28082).
FT {ECO:0000305}.
FT CONFLICT 469 469 K -> E (in Ref. 2; AAR28082).
FT {ECO:0000305}.
FT CONFLICT 604 604 Y -> S (in Ref. 1; CAC44536).
FT {ECO:0000305}.
FT CONFLICT 621 621 Q -> H (in Ref. 1; CAC44536 and 2;
FT AAR28082). {ECO:0000305}.
FT CONFLICT 641 641 K -> E (in Ref. 1; CAC44536).
FT {ECO:0000305}.
FT CONFLICT 702 702 T -> S (in Ref. 2; AAR28082).
FT {ECO:0000305}.
FT CONFLICT 772 772 S -> G (in Ref. 2; AAR28082).
FT {ECO:0000305}.
SQ SEQUENCE 947 AA; 105567 MW; 2C599D50C8C637AC CRC64;
MSWLRFWGPW PLLTWQLLSL LVKEAQPLVW VKDPLQLTSN PLGPPEPWSS RSSHLPWESP
HAPAPPAAPG DFDYLGPSAS SQMSALPQEP TENLAPFLKE LDSAGELPLG PEPFLAAHQD
LNDKRTPEER LPEVVPLLNR DQNQALVQLP RLKWVQTTDL DRAAGHQADE ILVPLDSKVS
RPTKFVVSPK NLKKDLAERW SLPEIVGIPH QLSKPQRQKQ TLPDDYLSMD TLYPGSLPPE
LRVNADEPPG PPEQVGLSQF HLEPKSQNPE TLEDIQSSSL QEEAPAQLLQ LPQEVEPSTQ
QEAPALPPES SMESLAQTPL NHEVTVQPPG EDQAHYNLPK FTVKPADVEV TMTSEPKNET
ESTQAQQEAP IQPPEEAEPS STALRTTDPP PEHPEVTLPP SDKGQAQHSH LTEATVQPLD
LELSITTEPT TEVKPSPTTE ETSAQPPDPG LAITPEPTTE IGHSTALEKT RAPHPDQVQT
LHRSLTEVTG PPTKLESSQD SLVQSETAPE EQKASTSTNI CELCTCGDET LSCVGLSPKQ
RLRQVPVPEP DTYNGIFTTL NFQGNYISYL DGNVWKAYSW TEKLILSENY LTELPKDSFE
GLLYLQYLDL SCNKIRYIER QTFESLPFLQ YINLGCNLIT KLSLGTFQAW HGMQFLHNLI
LNRNPLTTVE DPYLFELPAL KYLDMGTTHI TLTTLKNILT MTVELEKLIL PSHMACCLCQ
FKNSIEAVCK TVKLHCNTAC LTNSIHCPEE ASVGNPEGAF MKMLQARKQH MSTQLTIESE
APSDSSGINL SGFGGDQLEI QLTEQLRSLI PNEDVRKFMS HVIRTLKMEC SETHVQGSCA
KLMLRTGLLM KLLSEQQEAK ALNVEWDTDQ QKTNYINENM EQNEQKEQKS SELMKEVPGD
DYKNKLIFAI SVTVILIILI IIFCLIEVNS HKRASEKYKD NPSISGA
//
ID CDRTF_HUMAN Reviewed; 188 AA.
AC Q96T59; B2RUU5;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 28-FEB-2018, entry version 82.
DE RecName: Full=CMT1A duplicated region transcript 15 protein;
GN Name=CDRT15;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND TISSUE SPECIFICITY.
RX PubMed=11381029; DOI=10.1101/gr.180401;
RA Inoue K., Dewar K., Katsanis N., Reiter L.T., Lander E.S., Devon K.L.,
RA Wyman D.W., Lupski J.R., Birren B.;
RT "The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals
RT unique genome architectural features and provides insights into the
RT recent evolution of new genes.";
RL Genome Res. 11:1018-1033(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- TISSUE SPECIFICITY: Expressed in fetal heart, kidney, liver, lung
CC and spleen. {ECO:0000269|PubMed:11381029}.
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DR EMBL; AF355097; AAK39098.1; -; Genomic_DNA.
DR EMBL; BC146859; AAI46860.1; -; mRNA.
DR CCDS; CCDS32569.1; -.
DR RefSeq; NP_001007531.1; NM_001007530.2.
DR UniGene; Hs.447556; -.
DR UniGene; Hs.735172; -.
DR ProteinModelPortal; Q96T59; -.
DR BioGrid; 127013; 9.
DR IntAct; Q96T59; 1.
DR MINT; Q96T59; -.
DR STRING; 9606.ENSP00000402355; -.
DR iPTMnet; Q96T59; -.
DR PhosphoSitePlus; Q96T59; -.
DR BioMuta; CDRT15; -.
DR DMDM; 74717324; -.
DR PaxDb; Q96T59; -.
DR PeptideAtlas; Q96T59; -.
DR PRIDE; Q96T59; -.
DR Ensembl; ENST00000420162; ENSP00000402355; ENSG00000223510.
DR GeneID; 146822; -.
DR KEGG; hsa:146822; -.
DR UCSC; uc010vvu.3; human.
DR CTD; 146822; -.
DR EuPathDB; HostDB:ENSG00000223510.6; -.
DR GeneCards; CDRT15; -.
DR H-InvDB; HIX0024211; -.
DR H-InvDB; HIX0173548; -.
DR HGNC; HGNC:14395; CDRT15.
DR HPA; HPA055952; -.
DR neXtProt; NX_Q96T59; -.
DR OpenTargets; ENSG00000223510; -.
DR PharmGKB; PA26337; -.
DR eggNOG; ENOG410KIGZ; Eukaryota.
DR eggNOG; ENOG4110Q8R; LUCA.
DR GeneTree; ENSGT00390000011755; -.
DR HOGENOM; HOG000111476; -.
DR HOVERGEN; HBG095395; -.
DR InParanoid; Q96T59; -.
DR OMA; LLQAWMR; -.
DR OrthoDB; EOG091G0QU4; -.
DR PhylomeDB; Q96T59; -.
DR TreeFam; TF342212; -.
DR GenomeRNAi; 146822; -.
DR PRO; PR:Q96T59; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000223510; -.
DR CleanEx; HS_CDRT15; -.
DR ExpressionAtlas; Q96T59; baseline and differential.
DR Genevisible; Q96T59; HS.
PE 2: Evidence at transcript level;
KW Complete proteome; Polymorphism; Reference proteome.
FT CHAIN 1 188 CMT1A duplicated region transcript 15
FT protein.
FT /FTId=PRO_0000314905.
FT VARIANT 24 24 R -> Q (in dbSNP:rs17679866).
FT /FTId=VAR_038121.
FT CONFLICT 87 87 L -> R (in Ref. 2; AAI46860).
FT {ECO:0000305}.
SQ SEQUENCE 188 AA; 20651 MW; D3654E4F9A5D61BC CRC64;
MFSCCFPTSR GCCFRNGGSE SLFRRCRRRL IPHPRRLSPV VIRRIQVPQD SLGQALAGQA
TPEIPLGLQL HTVLVQEIQE LIEAQTLAPG PCAEVRALPA PAAEPEPAWE EAPPERALEL
EGAPAKDQTN EELPEITEVP ESIKRRLGRR VPAATPAPRG NLLLQAWMRV HSWASRLFAP
NVLPGTGP
//
ID CQ062_HUMAN Reviewed; 187 AA.
AC Q9BQA9; E1B6X3; Q96NR1;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 25-APR-2018, entry version 108.
DE RecName: Full=Uncharacterized protein C17orf62;
GN Name=C17orf62;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung carcinoma;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA Wang L., Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT liver phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- INTERACTION:
CC Q8N6L0:CCDC155; NbExp=5; IntAct=EBI-2680384, EBI-749265;
CC P14921:ETS1; NbExp=3; IntAct=EBI-2680384, EBI-913209;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BQA9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BQA9-2; Sequence=VSP_046335;
CC Note=No experimental confirmation available.;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB70818.1; Type=Miscellaneous discrepancy; Note=Wrong choice of frame.; Evidence={ECO:0000305};
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AK054876; BAB70818.1; ALT_SEQ; mRNA.
DR EMBL; AC132938; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471099; EAW89786.1; -; Genomic_DNA.
DR EMBL; BC004171; AAH04171.1; -; mRNA.
DR EMBL; BC003595; AAH03595.1; -; mRNA.
DR CCDS; CCDS32776.1; -. [Q9BQA9-1]
DR CCDS; CCDS45817.1; -. [Q9BQA9-2]
DR RefSeq; NP_001028218.1; NM_001033046.3. [Q9BQA9-1]
DR RefSeq; NP_001093877.1; NM_001100407.2. [Q9BQA9-1]
DR RefSeq; NP_001093878.1; NM_001100408.2. [Q9BQA9-2]
DR RefSeq; NP_001180582.1; NM_001193653.1. [Q9BQA9-1]
DR RefSeq; NP_001180583.1; NM_001193654.1. [Q9BQA9-1]
DR RefSeq; NP_001180584.1; NM_001193655.1. [Q9BQA9-1]
DR RefSeq; NP_001180586.1; NM_001193657.1. [Q9BQA9-1]
DR RefSeq; XP_006722356.1; XM_006722293.2. [Q9BQA9-2]
DR RefSeq; XP_016880563.1; XM_017025074.1. [Q9BQA9-1]
DR RefSeq; XP_016880564.1; XM_017025075.1. [Q9BQA9-1]
DR RefSeq; XP_016880565.1; XM_017025076.1. [Q9BQA9-1]
DR RefSeq; XP_016880566.1; XM_017025077.1. [Q9BQA9-1]
DR RefSeq; XP_016880567.1; XM_017025078.1. [Q9BQA9-2]
DR UniGene; Hs.163113; -.
DR ProteinModelPortal; Q9BQA9; -.
DR SMR; Q9BQA9; -.
DR BioGrid; 122665; 9.
DR IntAct; Q9BQA9; 11.
DR MINT; Q9BQA9; -.
DR STRING; 9606.ENSP00000307765; -.
DR iPTMnet; Q9BQA9; -.
DR PhosphoSitePlus; Q9BQA9; -.
DR BioMuta; C17orf62; -.
DR DMDM; 74732825; -.
DR EPD; Q9BQA9; -.
DR MaxQB; Q9BQA9; -.
DR PaxDb; Q9BQA9; -.
DR PeptideAtlas; Q9BQA9; -.
DR PRIDE; Q9BQA9; -.
DR TopDownProteomics; Q9BQA9-1; -. [Q9BQA9-1]
DR DNASU; 79415; -.
DR Ensembl; ENST00000306645; ENSP00000307765; ENSG00000178927. [Q9BQA9-1]
DR Ensembl; ENST00000434650; ENSP00000401626; ENSG00000178927. [Q9BQA9-2]
DR Ensembl; ENST00000437807; ENSP00000388909; ENSG00000178927. [Q9BQA9-1]
DR Ensembl; ENST00000577436; ENSP00000464633; ENSG00000178927. [Q9BQA9-2]
DR Ensembl; ENST00000577732; ENSP00000463228; ENSG00000178927. [Q9BQA9-1]
DR Ensembl; ENST00000578919; ENSP00000464080; ENSG00000178927. [Q9BQA9-1]
DR Ensembl; ENST00000585064; ENSP00000463846; ENSG00000178927. [Q9BQA9-1]
DR Ensembl; ENST00000585080; ENSP00000462529; ENSG00000178927. [Q9BQA9-1]
DR GeneID; 79415; -.
DR KEGG; hsa:79415; -.
DR UCSC; uc002kfa.5; human. [Q9BQA9-1]
DR CTD; 79415; -.
DR EuPathDB; HostDB:ENSG00000178927.16; -.
DR GeneCards; C17orf62; -.
DR H-InvDB; HIX0014275; -.
DR H-InvDB; HIX0039552; -.
DR HGNC; HGNC:28672; C17orf62.
DR HPA; HPA045696; -.
DR neXtProt; NX_Q9BQA9; -.
DR OpenTargets; ENSG00000178927; -.
DR PharmGKB; PA142672245; -.
DR eggNOG; ENOG410IVNK; Eukaryota.
DR eggNOG; ENOG4111MD2; LUCA.
DR GeneTree; ENSGT00390000004691; -.
DR HOGENOM; HOG000111936; -.
DR HOVERGEN; HBG081327; -.
DR InParanoid; Q9BQA9; -.
DR OMA; MQVETRT; -.
DR PhylomeDB; Q9BQA9; -.
DR TreeFam; TF332389; -.
DR ChiTaRS; C17orf62; human.
DR GenomeRNAi; 79415; -.
DR PRO; PR:Q9BQA9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000178927; -.
DR CleanEx; HS_C17orf62; -.
DR ExpressionAtlas; Q9BQA9; baseline and differential.
DR Genevisible; Q9BQA9; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR027846; DUF4564.
DR PANTHER; PTHR31837; PTHR31837; 1.
DR Pfam; PF15169; DUF4564; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 187 Uncharacterized protein C17orf62.
FT /FTId=PRO_0000281418.
FT TRANSMEM 20 42 Helical. {ECO:0000255}.
FT MOD_RES 168 168 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q6AYA6}.
FT VAR_SEQ 29 42 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_046335.
SQ SEQUENCE 187 AA; 20774 MW; 363321B2FC5D36A7 CRC64;
MYLQVETRTS SRLHLKRAPG IRSWSLLVGI LSIGLAAAYY SGDSLGWKLF YVTGCLFVAV
QNLEDWEEAI FDKSTGKVVL KTFSLYKKLL TLFRAGHDQV VVLLHDVRDV SVEEEKVRYF
GKGYMVVLRL ATGFSHPLTQ SAVMGHRSDV EAIAKLITSF LELHCLESPT ELSQSSDSEA
GDPASQS
//
ID HSPB9_HUMAN Reviewed; 159 AA.
AC Q9BQS6; B3KSG6; Q52LB4;
DT 26-APR-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 27-SEP-2017, entry version 111.
DE RecName: Full=Heat shock protein beta-9;
DE Short=HspB9;
DE AltName: Full=Cancer/testis antigen 51;
DE Short=CT51;
GN Name=HSPB9;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND TISSUE SPECIFICITY.
RX PubMed=11470154;
RA Kappe G., Verschuure P., Philipsen R.L.A., Staalduinen A.A.,
RA Van de Boogaart P., Boelens W.C., de Jong W.W.;
RT "Characterization of two novel human small heat shock proteins:
RT protein kinase-related HspB8 and testis-specific HspB9.";
RL Biochim. Biophys. Acta 1520:1-6(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP SUBCELLULAR LOCATION.
RX PubMed=19464326; DOI=10.1016/j.bbamcr.2009.05.005;
RA Vos M.J., Kanon B., Kampinga H.H.;
RT "HSPB7 is a SC35 speckle resident small heat shock protein.";
RL Biochim. Biophys. Acta 1793:1343-1353(2009).
CC -!- INTERACTION:
CC P63172:DYNLT1; NbExp=5; IntAct=EBI-1176448, EBI-1176455;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326}.
CC Nucleus {ECO:0000269|PubMed:19464326}. Note=Translocates to
CC nuclear foci during heat shock.
CC -!- TISSUE SPECIFICITY: Testis specific.
CC {ECO:0000269|PubMed:11470154}.
CC -!- SIMILARITY: Belongs to the small heat shock protein (HSP20)
CC family. {ECO:0000255|PROSITE-ProRule:PRU00285}.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AJ302068; CAC35727.1; -; Genomic_DNA.
DR EMBL; AK093488; BAG52728.1; -; mRNA.
DR EMBL; CH471152; EAW60804.1; -; Genomic_DNA.
DR EMBL; BC093991; AAH93991.1; -; mRNA.
DR EMBL; BC093993; AAH93993.1; -; mRNA.
DR CCDS; CCDS11418.1; -.
DR RefSeq; NP_149971.1; NM_033194.2.
DR UniGene; Hs.620611; -.
DR ProteinModelPortal; Q9BQS6; -.
DR SMR; Q9BQS6; -.
DR BioGrid; 125108; 10.
DR IntAct; Q9BQS6; 3.
DR STRING; 9606.ENSP00000347178; -.
DR PhosphoSitePlus; Q9BQS6; -.
DR BioMuta; HSPB9; -.
DR DMDM; 46576635; -.
DR PaxDb; Q9BQS6; -.
DR PRIDE; Q9BQS6; -.
DR DNASU; 94086; -.
DR Ensembl; ENST00000565659; ENSP00000458018; ENSG00000260325.
DR GeneID; 94086; -.
DR KEGG; hsa:94086; -.
DR UCSC; uc002hyy.3; human.
DR CTD; 94086; -.
DR DisGeNET; 94086; -.
DR EuPathDB; HostDB:ENSG00000260325.1; -.
DR GeneCards; HSPB9; -.
DR HGNC; HGNC:30589; HSPB9.
DR MIM; 608344; gene.
DR neXtProt; NX_Q9BQS6; -.
DR OpenTargets; ENSG00000260325; -.
DR PharmGKB; PA134875756; -.
DR eggNOG; KOG3591; Eukaryota.
DR eggNOG; ENOG410YERS; LUCA.
DR GeneTree; ENSGT00510000049735; -.
DR HOGENOM; HOG000230993; -.
DR HOVERGEN; HBG052041; -.
DR InParanoid; Q9BQS6; -.
DR KO; K09547; -.
DR OMA; AMTCCLT; -.
DR OrthoDB; EOG091G0WOM; -.
DR PhylomeDB; Q9BQS6; -.
DR TreeFam; TF338684; -.
DR GenomeRNAi; 94086; -.
DR PRO; PR:Q9BQS6; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000260325; -.
DR CleanEx; HS_HSPB9; -.
DR Genevisible; Q9BQS6; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR Gene3D; 2.60.40.790; -; 1.
DR InterPro; IPR002068; A-crystallin/Hsp20_dom.
DR InterPro; IPR031107; HSP20.
DR InterPro; IPR008978; HSP20-like_chaperone.
DR PANTHER; PTHR11527; PTHR11527; 1.
DR Pfam; PF00011; HSP20; 1.
DR SUPFAM; SSF49764; SSF49764; 1.
DR PROSITE; PS01031; SHSP; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Cytoplasm; Nucleus; Polymorphism;
KW Reference proteome; Stress response.
FT CHAIN 1 159 Heat shock protein beta-9.
FT /FTId=PRO_0000125950.
FT DOMAIN 36 147 sHSP. {ECO:0000255|PROSITE-
FT ProRule:PRU00285}.
FT VARIANT 2 2 Q -> P (in dbSNP:rs1122326).
FT /FTId=VAR_022054.
SQ SEQUENCE 159 AA; 17486 MW; F28E40D0512C4997 CRC64;
MQRVGNTFSN ESRVASRCPS VGLAERNRVA TMPVRLLRDS PAAQEDNDHA RDGFQMKLDA
HGFAPEELVV QVDGQWLMVT GQQQLDVRDP ERVSYRMSQK VHRKMLPSNL SPTAMTCCLT
PSGQLWVRGQ CVALALPEAQ TGPSPRLGSL GSKASNLTR
//
ID CQ080_HUMAN Reviewed; 609 AA.
AC Q9BSJ5; A8K9X3; Q5JB45; Q6YAU3; Q9H0L9; Q9H5E6; Q9NWN5;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 28-FEB-2018, entry version 107.
DE RecName: Full=Uncharacterized protein C17orf80;
DE AltName: Full=Cell migration-inducing gene 3 protein;
DE AltName: Full=Human lung cancer oncogene 8 protein;
DE Short=HLC-8;
GN Name=C17orf80; ORFNames=HLC8, MIG3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 377-609 (ISOFORM 1), AND VARIANTS
RP LEU-356; ASN-395; ARG-396; HIS-420 AND THR-522.
RA Kim J.W.;
RT "Identification of a new human cancer-related gene (HLC-8).";
RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
RP ASN-395.
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.GR1547R;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
RA Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
RA Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
RA Wambutt R., Korn B., Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and
RT analysis of 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND
RP VARIANTS ASN-395; HIS-420 AND THR-522.
RC TISSUE=Lung, and Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ASN-395.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP ASN-395.
RC TISSUE=Kidney;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BSJ5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BSJ5-2; Sequence=VSP_024572;
CC Name=3;
CC IsoId=Q9BSJ5-3; Sequence=VSP_024573, VSP_024574;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAP72185.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
CC Sequence=BAA91344.1; Type=Frameshift; Positions=121; Evidence={ECO:0000305};
CC Sequence=BAB15680.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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DR EMBL; AY163812; AAO25513.1; -; mRNA.
DR EMBL; AY239293; AAP72185.1; ALT_INIT; mRNA.
DR EMBL; AL136740; CAB66674.1; -; mRNA.
DR EMBL; AK000728; BAA91344.1; ALT_FRAME; mRNA.
DR EMBL; AK027166; BAB15680.1; ALT_INIT; mRNA.
DR EMBL; AK292838; BAF85527.1; -; mRNA.
DR EMBL; AC087301; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC097641; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471099; EAW89118.1; -; Genomic_DNA.
DR EMBL; BC005005; AAH05005.1; -; mRNA.
DR CCDS; CCDS11694.1; -. [Q9BSJ5-1]
DR CCDS; CCDS42377.1; -. [Q9BSJ5-2]
DR CCDS; CCDS45767.1; -. [Q9BSJ5-3]
DR RefSeq; NP_001094091.1; NM_001100621.2.
DR RefSeq; NP_001275699.1; NM_001288770.1.
DR RefSeq; NP_060411.2; NM_017941.5.
DR RefSeq; XP_005257544.1; XM_005257487.3.
DR RefSeq; XP_011523263.1; XM_011524961.1. [Q9BSJ5-1]
DR RefSeq; XP_011523264.1; XM_011524962.2. [Q9BSJ5-1]
DR RefSeq; XP_016880295.1; XM_017024806.1. [Q9BSJ5-1]
DR UniGene; Hs.12929; -.
DR ProteinModelPortal; Q9BSJ5; -.
DR SMR; Q9BSJ5; -.
DR BioGrid; 120358; 24.
DR IntAct; Q9BSJ5; 2.
DR STRING; 9606.ENSP00000351937; -.
DR iPTMnet; Q9BSJ5; -.
DR PhosphoSitePlus; Q9BSJ5; -.
DR BioMuta; C17orf80; -.
DR DMDM; 317373351; -.
DR EPD; Q9BSJ5; -.
DR MaxQB; Q9BSJ5; -.
DR PaxDb; Q9BSJ5; -.
DR PeptideAtlas; Q9BSJ5; -.
DR PRIDE; Q9BSJ5; -.
DR DNASU; 55028; -.
DR Ensembl; ENST00000268942; ENSP00000268942; ENSG00000141219. [Q9BSJ5-2]
DR Ensembl; ENST00000359042; ENSP00000351937; ENSG00000141219. [Q9BSJ5-1]
DR Ensembl; ENST00000426147; ENSP00000396970; ENSG00000141219. [Q9BSJ5-3]
DR Ensembl; ENST00000535032; ENSP00000440551; ENSG00000141219. [Q9BSJ5-1]
DR Ensembl; ENST00000577615; ENSP00000464132; ENSG00000141219. [Q9BSJ5-2]
DR GeneID; 55028; -.
DR KEGG; hsa:55028; -.
DR UCSC; uc002jjk.3; human. [Q9BSJ5-1]
DR CTD; 55028; -.
DR DisGeNET; 55028; -.
DR EuPathDB; HostDB:ENSG00000141219.15; -.
DR GeneCards; C17orf80; -.
DR HGNC; HGNC:29601; C17orf80.
DR HPA; HPA012896; -.
DR neXtProt; NX_Q9BSJ5; -.
DR OpenTargets; ENSG00000141219; -.
DR PharmGKB; PA143485404; -.
DR eggNOG; ENOG410IGD8; Eukaryota.
DR eggNOG; ENOG4111ZKT; LUCA.
DR GeneTree; ENSGT00510000049019; -.
DR HOVERGEN; HBG057035; -.
DR InParanoid; Q9BSJ5; -.
DR OMA; LEWFPEL; -.
DR OrthoDB; EOG091G0F0L; -.
DR PhylomeDB; Q9BSJ5; -.
DR TreeFam; TF324369; -.
DR ChiTaRS; C17orf80; human.
DR GenomeRNAi; 55028; -.
DR PRO; PR:Q9BSJ5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000141219; -.
DR CleanEx; HS_C17orf80; -.
DR ExpressionAtlas; Q9BSJ5; baseline and differential.
DR Genevisible; Q9BSJ5; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR037694; C17orf80.
DR PANTHER; PTHR16270; PTHR16270; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Membrane; Polymorphism;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 609 Uncharacterized protein C17orf80.
FT /FTId=PRO_0000284612.
FT TOPO_DOM 1 552 Extracellular. {ECO:0000255}.
FT TRANSMEM 553 573 Helical. {ECO:0000255}.
FT TOPO_DOM 574 609 Cytoplasmic. {ECO:0000255}.
FT VAR_SEQ 505 540 Missing (in isoform 2).
FT {ECO:0000303|PubMed:11230166,
FT ECO:0000303|PubMed:14702039,
FT ECO:0000303|Ref.1}.
FT /FTId=VSP_024572.
FT VAR_SEQ 578 583 KLCRPL -> LQRWRK (in isoform 3).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_024573.
FT VAR_SEQ 584 609 Missing (in isoform 3).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_024574.
FT VARIANT 226 226 G -> S (in dbSNP:rs9902726).
FT /FTId=VAR_031779.
FT VARIANT 322 322 K -> Q (in dbSNP:rs34784472).
FT /FTId=VAR_031780.
FT VARIANT 356 356 F -> L (in dbSNP:rs745143).
FT {ECO:0000269|Ref.1}.
FT /FTId=VAR_031781.
FT VARIANT 395 395 H -> N (in dbSNP:rs904384).
FT {ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.1, ECO:0000269|Ref.5}.
FT /FTId=VAR_031782.
FT VARIANT 396 396 C -> R (in dbSNP:rs904383).
FT {ECO:0000269|Ref.1}.
FT /FTId=VAR_031783.
FT VARIANT 420 420 Q -> H (in dbSNP:rs745142).
FT {ECO:0000269|PubMed:14702039,
FT ECO:0000269|Ref.1}.
FT /FTId=VAR_031784.
FT VARIANT 522 522 A -> T (in dbSNP:rs1566286).
FT {ECO:0000269|PubMed:14702039,
FT ECO:0000269|Ref.1}.
FT /FTId=VAR_031785.
FT CONFLICT 33 33 P -> S (in Ref. 2; CAB66674).
FT {ECO:0000305}.
FT CONFLICT 484 484 C -> R (in Ref. 4; BAB15680).
FT {ECO:0000305}.
FT CONFLICT 536 536 G -> R (in Ref. 4; BAA91344).
FT {ECO:0000305}.
SQ SEQUENCE 609 AA; 67315 MW; 2579A2A739C10A43 CRC64;
MSDNPPRMEV CPYCKKPFKR LKSHLPYCKM IGPTIPTDQK VYQSKPATLP RAKKMKGPIK
DLIKAKGKEL ETENEERNSK LVVDKPEQTV KTFPLPAVGL ERAATTKADK DIKNPIQPSF
KMLKNTKPMT TFQEETKAQF YASEKTSPKR ELAKDLPKSG ESRCNPSEAG ASLLVGSIEP
SLSNQDRKYS STLPNDVQTT SGDLKLDKID PQRQELLVKL LDVPTGDCHI SPKNVSDGVK
RVRTLLSNER DSKGRDHLSG VPTDVTVTET PEKNTESLIL SLKMSSLGKI QVMEKQEKGL
TLGVETCGSK GNAEKSMSAT EKQERTVMSH GCENFNTRDS VTGKESQGER PHLSLFIPRE
TTYQFHSVSQ SSSQSLASLA TTFLQEKKAE AQNHHCVPDV KALMESPEGQ LSLEPKSDSQ
FQASHTGCQS PLCSAQRHTP QSPFTNHAAA AGRKTLRSCM GLEWFPELYP GYLGLGVLPG
KPQCWNAMTQ KPQLISPQGE RLSQVSLLER SSTHIRSLEP PAGLTTSNFS LMRLLGAVQK
GWIRCNTTIR KSGFGGITML FTGYFVLCCS WSFRRLKKLC RPLPWKSTVP PCIGVAKTTG
DCRSKTCLD
//
ID PR15L_HUMAN Reviewed; 103 AA.
AC Q9BU68; D3DTU0;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 28-FEB-2018, entry version 99.
DE RecName: Full=Proline-rich protein 15-like protein;
DE AltName: Full=Protein ATAD4;
GN Name=PRR15L; Synonyms=ATAD4;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SIMILARITY: Belongs to the PRR15 family. {ECO:0000305}.
CC -----------------------------------------------------------------------
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DR EMBL; CH471109; EAW94779.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94780.1; -; Genomic_DNA.
DR EMBL; BC002865; AAH02865.1; -; mRNA.
DR CCDS; CCDS11523.1; -.
DR RefSeq; NP_077296.1; NM_024320.3.
DR RefSeq; XP_005257720.1; XM_005257663.4.
DR RefSeq; XP_005257721.1; XM_005257664.2.
DR RefSeq; XP_005257722.1; XM_005257665.1.
DR RefSeq; XP_005257723.1; XM_005257666.4.
DR UniGene; Hs.368260; -.
DR ProteinModelPortal; Q9BU68; -.
DR STRING; 9606.ENSP00000300557; -.
DR iPTMnet; Q9BU68; -.
DR PhosphoSitePlus; Q9BU68; -.
DR BioMuta; PRR15L; -.
DR MaxQB; Q9BU68; -.
DR PaxDb; Q9BU68; -.
DR PeptideAtlas; Q9BU68; -.
DR PRIDE; Q9BU68; -.
DR DNASU; 79170; -.
DR Ensembl; ENST00000300557; ENSP00000300557; ENSG00000167183.
DR GeneID; 79170; -.
DR KEGG; hsa:79170; -.
DR UCSC; uc002imp.5; human.
DR CTD; 79170; -.
DR EuPathDB; HostDB:ENSG00000167183.2; -.
DR GeneCards; PRR15L; -.
DR HGNC; HGNC:28149; PRR15L.
DR HPA; HPA022918; -.
DR neXtProt; NX_Q9BU68; -.
DR OpenTargets; ENSG00000167183; -.
DR PharmGKB; PA165432527; -.
DR eggNOG; ENOG410J00A; Eukaryota.
DR eggNOG; ENOG4112BUZ; LUCA.
DR GeneTree; ENSGT00390000014994; -.
DR HOGENOM; HOG000034120; -.
DR HOVERGEN; HBG102089; -.
DR InParanoid; Q9BU68; -.
DR OMA; VGWWKLT; -.
DR OrthoDB; EOG091G11H9; -.
DR PhylomeDB; Q9BU68; -.
DR TreeFam; TF333189; -.
DR GenomeRNAi; 79170; -.
DR PRO; PR:Q9BU68; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000167183; -.
DR CleanEx; HS_ATAD4; -.
DR ExpressionAtlas; Q9BU68; baseline and differential.
DR Genevisible; Q9BU68; HS.
DR InterPro; IPR028237; PRR15.
DR PANTHER; PTHR14581; PTHR14581; 1.
DR Pfam; PF15321; ATAD4; 1.
PE 3: Inferred from homology;
KW Complete proteome; Reference proteome.
FT CHAIN 1 103 Proline-rich protein 15-like protein.
FT /FTId=PRO_0000294352.
SQ SEQUENCE 103 AA; 11705 MW; 073C897D479709B9 CRC64;
MTTEIGWWKL TFLRKKKSTP KVLYEIPDTY AQTEGDAEPP RPDAGGPNSD FNTRLEKIVD
KSTKGKHVKV SNSGRFKEKK KVRATLAENP NLFDDHEEGR SSK
//
ID F117A_HUMAN Reviewed; 453 AA.
AC Q9C073; B7Z7Q3;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 28-MAR-2018, entry version 101.
DE RecName: Full=Protein FAM117A;
DE AltName: Full=C/EBP-induced protein;
GN Name=FAM117A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Bone marrow;
RA Tian Q., Schwartz R.C.;
RT "A novel C/EBP-regulated gene.";
RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Blood, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-213, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-213, AND IDENTIFICATION
RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-29; SER-67; SER-178;
RP SER-193; SER-201; SER-213; THR-299; THR-354 AND SER-428, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-29; SER-178 AND SER-193,
RP AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA Wang L., Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT liver phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9C073-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9C073-2; Sequence=VSP_056129;
CC Note=No experimental confirmation available.;
CC -!- SIMILARITY: Belongs to the FAM117 family. {ECO:0000305}.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AF123073; AAK01477.1; -; mRNA.
DR EMBL; AK302376; BAH13689.1; -; mRNA.
DR EMBL; AC015795; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC037572; AAH37572.1; -; mRNA.
DR EMBL; BC065199; AAH65199.1; -; mRNA.
DR CCDS; CCDS11553.1; -. [Q9C073-1]
DR RefSeq; NP_110429.1; NM_030802.3. [Q9C073-1]
DR UniGene; Hs.514308; -.
DR ProteinModelPortal; Q9C073; -.
DR BioGrid; 123522; 5.
DR IntAct; Q9C073; 4.
DR iPTMnet; Q9C073; -.
DR PhosphoSitePlus; Q9C073; -.
DR BioMuta; FAM117A; -.
DR DMDM; 74733494; -.
DR EPD; Q9C073; -.
DR MaxQB; Q9C073; -.
DR PaxDb; Q9C073; -.
DR PeptideAtlas; Q9C073; -.
DR PRIDE; Q9C073; -.
DR Ensembl; ENST00000240364; ENSP00000240364; ENSG00000121104. [Q9C073-1]
DR Ensembl; ENST00000513602; ENSP00000465808; ENSG00000121104. [Q9C073-2]
DR GeneID; 81558; -.
DR KEGG; hsa:81558; -.
DR UCSC; uc002ipk.4; human. [Q9C073-1]
DR CTD; 81558; -.
DR EuPathDB; HostDB:ENSG00000121104.7; -.
DR GeneCards; FAM117A; -.
DR HGNC; HGNC:24179; FAM117A.
DR HPA; HPA022531; -.
DR neXtProt; NX_Q9C073; -.
DR OpenTargets; ENSG00000121104; -.
DR PharmGKB; PA145008393; -.
DR eggNOG; ENOG410IEAU; Eukaryota.
DR eggNOG; ENOG4111PY2; LUCA.
DR GeneTree; ENSGT00390000005655; -.
DR HOGENOM; HOG000252927; -.
DR HOVERGEN; HBG079782; -.
DR InParanoid; Q9C073; -.
DR OMA; PPQSGSC; -.
DR OrthoDB; EOG091G0B78; -.
DR PhylomeDB; Q9C073; -.
DR TreeFam; TF333159; -.
DR GenomeRNAi; 81558; -.
DR PRO; PR:Q9C073; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000121104; -.
DR CleanEx; HS_FAM117A; -.
DR ExpressionAtlas; Q9C073; baseline and differential.
DR Genevisible; Q9C073; HS.
DR InterPro; IPR026642; Glcci1/FAM117.
DR PANTHER; PTHR14972; PTHR14972; 1.
DR Pfam; PF15388; FAM117; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Complete proteome; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1 453 Protein FAM117A.
FT /FTId=PRO_0000264988.
FT COILED 149 175 {ECO:0000255}.
FT COMPBIAS 402 444 Pro-rich.
FT MOD_RES 29 29 Phosphoserine.
FT {ECO:0000244|PubMed:23186163,
FT ECO:0000244|PubMed:24275569}.
FT MOD_RES 67 67 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 178 178 Phosphoserine.
FT {ECO:0000244|PubMed:23186163,
FT ECO:0000244|PubMed:24275569}.
FT MOD_RES 193 193 Phosphoserine.
FT {ECO:0000244|PubMed:23186163,
FT ECO:0000244|PubMed:24275569}.
FT MOD_RES 201 201 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 213 213 Phosphoserine.
FT {ECO:0000244|PubMed:19690332,
FT ECO:0000244|PubMed:21406692,
FT ECO:0000244|PubMed:23186163}.
FT MOD_RES 299 299 Phosphothreonine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 319 319 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q7TNF9}.
FT MOD_RES 327 327 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q7TNF9}.
FT MOD_RES 354 354 Phosphothreonine.
FT {ECO:0000244|PubMed:23186163}.
FT MOD_RES 413 413 Phosphoserine.
FT {ECO:0000250|UniProtKB:Q7TNF9}.
FT MOD_RES 428 428 Phosphoserine.
FT {ECO:0000244|PubMed:23186163}.
FT VAR_SEQ 1 272 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_056129.
SQ SEQUENCE 453 AA; 48319 MW; 93B83B4E293BBC7E CRC64;
MAGAAAGGRG GGAWGPGRGG AGGLRRGCSP PAPAGSPRAG LQPLRATIPF QLQQPHQRRD
GGGRAASVPC SVAPEKSVCR PQPLQVRRTF SLDTILSSYL LGQWPRDADG AFTCCTNDKA
TQTPLSWQEL EGERASSCAH KRSASWGSTD HRKEISKLKQ QLQRTKLSRS GKEKERGSPL
LGDHAVRGAL RASPPSFPSG SPVLRLSPCL HRSLEGLNQE LEEVFVKEQG EEELLRILDI
PDGHRAPAPP QSGSCDHPLL LLEPGNLASS PSMSLASPQP CGLASHEEHR GAAEELASTP
NDKASSPGHP AFLEDGSPSP VLAFAASPRP NHSYIFKREP PEGCEKVRVF EEATSPGPDL
AFLTSCPDKN KVHFNPTGSA FCPVNLMKPL FPGMGFIFRN CPSNPGSPLP PASPRPPPRK
DPEASKASPL PFEPWQRTPP SEEPVLFQSS LMV
//
ID QRIC2_HUMAN Reviewed; 1663 AA.
AC Q9H0J4; A2RRE1; Q96LM3;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 28-MAR-2018, entry version 107.
DE RecName: Full=Glutamine-rich protein 2;
GN Name=QRICH2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.GR1547R;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
RA Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
RA Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
RA Wambutt R., Korn B., Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and
RT analysis of 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 993-1663 (ISOFORM 2), AND
RP VARIANT GLN-1036.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=T-cell;
RX PubMed=19367720; DOI=10.1021/pr800500r;
RA Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J.;
RT "Phosphorylation analysis of primary human T lymphocytes using
RT sequential IMAC and titanium oxide enrichment.";
RL J. Proteome Res. 7:5167-5176(2008).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9H0J4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H0J4-2; Sequence=VSP_027102, VSP_027103;
CC Note=No experimental confirmation available.;
CC Name=3;
CC IsoId=Q9H0J4-3; Sequence=VSP_027101;
CC Note=No experimental confirmation available.;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB71667.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -----------------------------------------------------------------------
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CC Distributed under the Creative Commons Attribution-NoDerivs License
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DR EMBL; AL136774; CAB66708.1; -; mRNA.
DR EMBL; BC131559; AAI31560.1; -; mRNA.
DR EMBL; AK058102; BAB71667.1; ALT_INIT; mRNA.
DR CCDS; CCDS32741.1; -. [Q9H0J4-1]
DR RefSeq; NP_115510.1; NM_032134.2. [Q9H0J4-1]
DR UniGene; Hs.252739; -.
DR ProteinModelPortal; Q9H0J4; -.
DR SMR; Q9H0J4; -.
DR BioGrid; 123869; 6.
DR DIP; DIP-50256N; -.
DR IntAct; Q9H0J4; 10.
DR STRING; 9606.ENSP00000262765; -.
DR iPTMnet; Q9H0J4; -.
DR PhosphoSitePlus; Q9H0J4; -.
DR BioMuta; QRICH2; -.
DR DMDM; 74717987; -.
DR PaxDb; Q9H0J4; -.
DR PeptideAtlas; Q9H0J4; -.
DR PRIDE; Q9H0J4; -.
DR DNASU; 84074; -.
DR Ensembl; ENST00000262765; ENSP00000262765; ENSG00000129646. [Q9H0J4-1]
DR GeneID; 84074; -.
DR KEGG; hsa:84074; -.
DR UCSC; uc002jrd.1; human. [Q9H0J4-1]
DR CTD; 84074; -.
DR EuPathDB; HostDB:ENSG00000129646.13; -.
DR GeneCards; QRICH2; -.
DR HGNC; HGNC:25326; QRICH2.
DR HPA; HPA021935; -.
DR HPA; HPA052219; -.
DR neXtProt; NX_Q9H0J4; -.
DR OpenTargets; ENSG00000129646; -.
DR PharmGKB; PA142671107; -.
DR eggNOG; ENOG410JR2U; Eukaryota.
DR eggNOG; ENOG4111JFX; LUCA.
DR GeneTree; ENSGT00910000144214; -.
DR HOGENOM; HOG000154055; -.
DR HOVERGEN; HBG104793; -.
DR InParanoid; Q9H0J4; -.
DR OrthoDB; EOG091G01GZ; -.
DR PhylomeDB; Q9H0J4; -.
DR TreeFam; TF334838; -.
DR ChiTaRS; QRICH2; human.
DR GenomeRNAi; 84074; -.
DR PRO; PR:Q9H0J4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000129646; -.
DR CleanEx; HS_QRICH2; -.
DR ExpressionAtlas; Q9H0J4; baseline and differential.
DR Genevisible; Q9H0J4; HS.
DR InterPro; IPR032013; DUF4795.
DR Pfam; PF16043; DUF4795; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Complete proteome; Polymorphism;
KW Reference proteome.
FT CHAIN 1 1663 Glutamine-rich protein 2.
FT /FTId=PRO_0000295814.
FT COILED 1085 1160 {ECO:0000255}.
FT COILED 1286 1325 {ECO:0000255}.
FT COMPBIAS 381 759 Gln-rich.
FT VAR_SEQ 1 1156 Missing (in isoform 3).
FT {ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_027101.
FT VAR_SEQ 1375 1375 N -> A (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_027102.
FT VAR_SEQ 1376 1609 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_027103.
FT VARIANT 202 202 L -> S (in dbSNP:rs6501880).
FT /FTId=VAR_051295.
FT VARIANT 630 630 I -> T (in dbSNP:rs6501878).
FT /FTId=VAR_051296.
FT VARIANT 630 630 I -> V (in dbSNP:rs6501879).
FT /FTId=VAR_059711.
FT VARIANT 681 681 V -> D (in dbSNP:rs6501874).
FT /FTId=VAR_059712.
FT VARIANT 906 906 H -> Y (in dbSNP:rs2279054).
FT /FTId=VAR_051297.
FT VARIANT 974 974 H -> R (in dbSNP:rs2279053).
FT /FTId=VAR_051298.
FT VARIANT 1036 1036 E -> Q (in dbSNP:rs2279052).
FT {ECO:0000269|PubMed:14702039}.
FT /FTId=VAR_051299.
SQ SEQUENCE 1663 AA; 180827 MW; 62E1441FEF5C4DEE CRC64;
MKDAAEELSF ARVLLQRVDE LEKLFKDREQ FLELVSRKLS LVPGAEEVTM VTWEELEQAI
TDGWRASQAG SETLMGFSKH GGFTSLTSPE GTLSGDSTKQ PSIEQALDSA SGLGPDRTAS
GSGGTAHPSD GVSSREQSKV PSGTGRQQQP RARDEAGVPR LHQSSTFQFK SDSDRHRSRE
KLTSTQPRRN ARPGPVQQDL PLARDQPSSV PASQSQVHLR PDRRGLEPTG MNQPGLVPAS
TYPHGVVPLS MGQLGVPPPE MDDRELIPFV VDEQRMLPPS VPGRDQQGLE LPSTDQHGLV
SVSAYQHGMT FPGTDQRSME PLGMDQRGCV ISGMGQQGLV PPGIDQQGLT LPVVDQHGLV
LPFTDQHGLV SPGLMPISAD QQGFVQPSLE ATGFIQPGTE QHDLIQSGRF QRALVQRGAY
QPGLVQPGAD QRGLVRPGMD QSGLAQPGAD QRGLVWPGMD QSGLAQPGRD QHGLIQPGTG
QHDLVQSGTG QGVLVQPGVD QPGMVQPGRF QRALVQPGAY QPGLVQPGAD QIDVVQPGAD
QHGLVQSGAD QSDLAQPGAV QHGLVQPGVD QRGLAQPRAD HQRGLVPPGA DQRGLVQPGA
DQHGLVQPGV DQHGLAQPGE VQRSLVQPGI VQRGLVQPGA VQRGLVQPGA VQRGLVQPGV
DQRGLVQPGA VQRGLVQPGA VQHGLVQPGA DQRGLVQPGV DQRGLVQPGV DQRGLVQPGM
DQRGLIQPGA DQPGLVQPGA GQLGMVQPGI GQQGMVQPQA DPHGLVQPGA YPLGLVQPGA
YLHDLSQSGT YPRGLVQPGM DQYGLRQPGA YQPGLIAPGT KLRGSSTFQA DSTGFISVRP
YQHGMVPPGR EQYGQVSPLL ASQGLASPGI DRRSLVPPET YQQGLMHPGT DQHSPIPLST
GLGSTHPDQQ HVASPGPGEH DQVYPDAAQH GHAFSLFDSH DSMYPGYRGP GYLSADQHGQ
EGLDPNRTRA SDRHGIPAQK APGQDVTLFR SPDSVDRVLS EGSEVSSEVL SERRNSLRRM
SSSFPTAVET FHLMGELSSL YVGLKESMKD LDEEQAGQTD LEKIQFLLAQ MVKRTIPPEL
QEQLKTVKTL AKEVWQEKAK VERLQRILEG EGNQEAGKEL KAGELRLQLG VLRVTVADIE
KELAELRESQ DRGKAAMENS VSEASLYLQD QLDKLRMIIE SMLTSSSTLL SMSMAPHKAH
TLAPGQIDPE ATCPACSLDV SHQVSTLVRR YEQLQDMVNS LAVSRPSKKA KLQRQDEELL
GRVQSAILQV QGDCEKLNIT TSNLIEDHRQ KQKDIAMLYQ GLEKLEKEKA NREHLEMEID
VKADKSALAT KVSRVQFDAT TEQLNHMMQE LVAKMSGQEQ DWQKMLDRLL TEMDNKLDRL
ELDPVKQLLE DRWKSLRQQL RERPPLYQAD EAAAMRRQLL AHFHCLSCDR PLETPVTGHA
IPVTPAGPGL PGHHSIRPYT VFELEQVRQH SRNLKLGSAF PRGDLAQMEQ SVGRLRSMHS
KMLMNIEKVQ IHFGGSTKAS SQIIRELLHA QCLGSPCYKR VTDMADYTYS TVPRRCGGSH
TLTYPYHRSR PQHLPRGLYP TEEIQIAMKH DEVDILGLDG HIYKGRMDTR LPGILRKDSS
GTSKRKSQQP RPHVHRPPSL SSNGQLPSRP QSAQISAGNT SER
//
ID CUED1_HUMAN Reviewed; 386 AA.
AC Q9NWM3; D3DTZ2; Q9NWD0;
DT 10-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 28-MAR-2018, entry version 122.
DE RecName: Full=CUE domain-containing protein 1;
GN Name=CUEDC1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Embryonic head, and Hepatoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP STRUCTURE BY NMR OF 34-96.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of the CUE domain in the human CUE domain
RT containing protein 1 (CUEDC1).";
RL Submitted (SEP-2006) to the PDB data bank.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NWM3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NWM3-2; Sequence=VSP_010316;
CC Note=No experimental confirmation available.;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AK000746; BAA91357.1; -; mRNA.
DR EMBL; AK000977; BAA91452.1; -; mRNA.
DR EMBL; CH471109; EAW94498.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94501.1; -; Genomic_DNA.
DR EMBL; BC056882; AAH56882.1; -; mRNA.
DR CCDS; CCDS11599.1; -. [Q9NWM3-1]
DR RefSeq; NP_001258804.1; NM_001271875.1. [Q9NWM3-1]
DR RefSeq; NP_001278954.1; NM_001292025.1. [Q9NWM3-1]
DR RefSeq; XP_006721963.1; XM_006721900.2. [Q9NWM3-1]
DR UniGene; Hs.46679; -.
DR PDB; 2DHY; NMR; -; A=37-90.
DR PDBsum; 2DHY; -.
DR ProteinModelPortal; Q9NWM3; -.
DR SMR; Q9NWM3; -.
DR BioGrid; 135642; 46.
DR IntAct; Q9NWM3; 7.
DR MINT; Q9NWM3; -.
DR STRING; 9606.ENSP00000353373; -.
DR iPTMnet; Q9NWM3; -.
DR PhosphoSitePlus; Q9NWM3; -.
DR DMDM; 47116934; -.
DR EPD; Q9NWM3; -.
DR MaxQB; Q9NWM3; -.
DR PaxDb; Q9NWM3; -.
DR PeptideAtlas; Q9NWM3; -.
DR PRIDE; Q9NWM3; -.
DR Ensembl; ENST00000360238; ENSP00000353373; ENSG00000180891. [Q9NWM3-1]
DR Ensembl; ENST00000407144; ENSP00000384712; ENSG00000180891. [Q9NWM3-1]
DR Ensembl; ENST00000577830; ENSP00000462717; ENSG00000180891. [Q9NWM3-1]
DR GeneID; 404093; -.
DR KEGG; hsa:404093; -.
DR UCSC; uc002ivd.3; human. [Q9NWM3-1]
DR CTD; 404093; -.
DR EuPathDB; HostDB:ENSG00000180891.12; -.
DR GeneCards; CUEDC1; -.
DR HGNC; HGNC:31350; CUEDC1.
DR HPA; HPA023050; -.
DR HPA; HPA024836; -.
DR neXtProt; NX_Q9NWM3; -.
DR OpenTargets; ENSG00000180891; -.
DR PharmGKB; PA134913154; -.
DR eggNOG; KOG4588; Eukaryota.
DR eggNOG; ENOG4111S1H; LUCA.
DR GeneTree; ENSGT00390000006762; -.
DR HOGENOM; HOG000007372; -.
DR HOVERGEN; HBG051264; -.
DR InParanoid; Q9NWM3; -.
DR OMA; DANVSPQ; -.
DR OrthoDB; EOG091G0C64; -.
DR PhylomeDB; Q9NWM3; -.
DR TreeFam; TF324332; -.
DR ChiTaRS; CUEDC1; human.
DR EvolutionaryTrace; Q9NWM3; -.
DR GenomeRNAi; 404093; -.
DR PRO; PR:Q9NWM3; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000180891; -.
DR CleanEx; HS_CUEDC1; -.
DR ExpressionAtlas; Q9NWM3; baseline and differential.
DR Genevisible; Q9NWM3; HS.
DR InterPro; IPR003892; CUE.
DR InterPro; IPR009060; UBA-like_sf.
DR Pfam; PF02845; CUE; 1.
DR SMART; SM00546; CUE; 1.
DR SUPFAM; SSF46934; SSF46934; 1.
DR PROSITE; PS51140; CUE; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Complete proteome; Polymorphism;
KW Reference proteome.
FT CHAIN 1 386 CUE domain-containing protein 1.
FT /FTId=PRO_0000079559.
FT DOMAIN 46 89 CUE. {ECO:0000255|PROSITE-
FT ProRule:PRU00468}.
FT COMPBIAS 110 154 Pro-rich.
FT VAR_SEQ 233 260 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_010316.
FT VARIANT 169 169 R -> H (in dbSNP:rs17762338).
FT /FTId=VAR_050933.
FT VARIANT 205 205 P -> S (in dbSNP:rs2304942).
FT /FTId=VAR_021951.
FT VARIANT 316 316 R -> Q (in dbSNP:rs34800498).
FT /FTId=VAR_033765.
FT CONFLICT 47 47 F -> L (in Ref. 1; BAA91452).
FT {ECO:0000305}.
FT HELIX 48 57 {ECO:0000244|PDB:2DHY}.
FT STRAND 59 61 {ECO:0000244|PDB:2DHY}.
FT HELIX 63 73 {ECO:0000244|PDB:2DHY}.
FT HELIX 77 89 {ECO:0000244|PDB:2DHY}.
SQ SEQUENCE 386 AA; 42258 MW; F5530FA47C267895 CRC64;
MTSLFRRSSS GSGGGGTAGA RGGGGGTAAP QELNNSRPAR QVRRLEFNQA MDDFKTMFPN
MDYDIIECVL RANSGAVDAT IDQLLQMNLE GGGSSGGVYE DSSDSEDSIP PEILERTLEP
DSSDEEPPPV YSPPAYHMHV FDRPYPLAPP TPPPRIDALG SGAPTSQRRY RNWNPPLLGN
LPDDFLRILP QQLDSIQGNA GGPKPGSGEG CPPAMAGPGP GDQESRWKQY LEDERIALFL
QNEEFMKELQ RNRDFLLALE RDRLKYESQK SKSSSVAVGN DFGFSSPVPG TGDANPAVSE
DALFRDKLKH MGKSTRRKLF ELARAFSEKT KMRKSKRKHL LKHQSLGAAA STANLLDDVE
GHACDEDFRG RRQEAPKVEE GLREGQ
//
ID HIG1B_HUMAN Reviewed; 99 AA.
AC Q9P298; D3DX57; Q9P297;
DT 27-SEP-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 28-FEB-2018, entry version 103.
DE RecName: Full=HIG1 domain family member 1B;
DE AltName: Full=Protein CLST 11240;
GN Name=HIGD1B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ASN-86.
RA Okaze H., Hayashi A., Kozuma S., Saito T.;
RT "CLST 11240 protein similar to HSPC010.";
RL Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP STRUCTURE BY NMR.
RX PubMed=22609626; DOI=10.1038/nmeth.2033;
RA Klammt C., Maslennikov I., Bayrhuber M., Eichmann C., Vajpai N.,
RA Chiu E.J., Blain K.Y., Esquivies L., Kwon J.H., Balana B., Pieper U.,
RA Sali A., Slesinger P.A., Kwiatkowski W., Riek R., Choe S.;
RT "Facile backbone structure determination of human membrane proteins by
RT NMR spectroscopy.";
RL Nat. Methods 9:834-839(2012).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255|PROSITE-
CC ProRule:PRU00836}; Multi-pass membrane protein
CC {ECO:0000255|PROSITE-ProRule:PRU00836}.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AB038021; BAA90725.1; -; mRNA.
DR EMBL; AB038022; BAA90726.1; -; mRNA.
DR EMBL; CH471178; EAW51575.1; -; Genomic_DNA.
DR EMBL; CH471178; EAW51576.1; -; Genomic_DNA.
DR EMBL; BC020667; AAH20667.1; -; mRNA.
DR CCDS; CCDS11488.1; -.
DR RefSeq; NP_001258809.1; NM_001271880.1.
DR RefSeq; NP_057522.1; NM_016438.3.
DR RefSeq; XP_006722009.1; XM_006721946.2.
DR RefSeq; XP_006722010.1; XM_006721947.3.
DR RefSeq; XP_006722011.1; XM_006721948.3.
DR RefSeq; XP_011523193.1; XM_011524891.2.
DR RefSeq; XP_016880231.1; XM_017024742.1.
DR RefSeq; XP_016880232.1; XM_017024743.1.
DR UniGene; Hs.151787; -.
DR UniGene; Hs.287963; -.
DR PDB; 2LON; NMR; -; A=1-99.
DR PDBsum; 2LON; -.
DR ProteinModelPortal; Q9P298; -.
DR SMR; Q9P298; -.
DR BioGrid; 119712; 1.
DR IntAct; Q9P298; 1.
DR iPTMnet; Q9P298; -.
DR PhosphoSitePlus; Q9P298; -.
DR DMDM; 74734852; -.
DR PaxDb; Q9P298; -.
DR PeptideAtlas; Q9P298; -.
DR PRIDE; Q9P298; -.
DR Ensembl; ENST00000253410; ENSP00000253410; ENSG00000131097.
DR Ensembl; ENST00000591513; ENSP00000468511; ENSG00000131097.
DR GeneID; 51751; -.
DR KEGG; hsa:51751; -.
DR UCSC; uc002ihm.4; human.
DR CTD; 51751; -.
DR EuPathDB; HostDB:ENSG00000131097.6; -.
DR GeneCards; HIGD1B; -.
DR HGNC; HGNC:24318; HIGD1B.
DR neXtProt; NX_Q9P298; -.
DR OpenTargets; ENSG00000131097; -.
DR PharmGKB; PA142671682; -.
DR eggNOG; KOG4431; Eukaryota.
DR eggNOG; ENOG41121ET; LUCA.
DR GeneTree; ENSGT00530000063398; -.
DR HOGENOM; HOG000234513; -.
DR HOVERGEN; HBG054361; -.
DR InParanoid; Q9P298; -.
DR OMA; WAPPEGE; -.
DR OrthoDB; EOG091G166Q; -.
DR PhylomeDB; Q9P298; -.
DR GenomeRNAi; 51751; -.
DR PRO; PR:Q9P298; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000131097; -.
DR CleanEx; HS_HIGD1B; -.
DR ExpressionAtlas; Q9P298; baseline and differential.
DR Genevisible; Q9P298; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR007667; Hypoxia_induced_domain.
DR Pfam; PF04588; HIG_1_N; 1.
DR PROSITE; PS51503; HIG1; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Complete proteome; Membrane; Polymorphism;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 99 HIG1 domain family member 1B.
FT /FTId=PRO_0000215774.
FT TOPO_DOM 1 29 Cytoplasmic. {ECO:0000255}.
FT TRANSMEM 30 47 Helical. {ECO:0000255|PROSITE-
FT ProRule:PRU00836}.
FT TOPO_DOM 48 61 Extracellular. {ECO:0000255}.
FT TRANSMEM 62 84 Helical. {ECO:0000255|PROSITE-
FT ProRule:PRU00836}.
FT TOPO_DOM 85 99 Cytoplasmic. {ECO:0000255}.
FT DOMAIN 1 94 HIG1. {ECO:0000255|PROSITE-
FT ProRule:PRU00836}.
FT VARIANT 86 86 S -> N (in dbSNP:rs1071682).
FT {ECO:0000269|Ref.1}.
FT /FTId=VAR_049354.
FT VARIANT 87 87 D -> N (in dbSNP:rs2231650).
FT /FTId=VAR_049355.
FT STRAND 11 14 {ECO:0000244|PDB:2LON}.
FT HELIX 18 24 {ECO:0000244|PDB:2LON}.
FT HELIX 30 49 {ECO:0000244|PDB:2LON}.
FT HELIX 66 87 {ECO:0000244|PDB:2LON}.
FT STRAND 89 92 {ECO:0000244|PDB:2LON}.
SQ SEQUENCE 99 AA; 11058 MW; 2B5AF9EE5F27FB05 CRC64;
MSANRRWWVP PDDEDCVSEK LLRKTRESPL VPIGLGGCLV VAAYRIYRLR SRGSTKMSIH
LIHTRVAAQA CAVGAIMLGA VYTMYSDYVK RMAQDAGEK
//
ID TMM98_HUMAN Reviewed; 226 AA.
AC Q9Y2Y6; E1P631; Q9UFK2;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 28-FEB-2018, entry version 112.
DE RecName: Full=Transmembrane protein 98;
DE AltName: Full=Protein TADA1;
GN Name=TMEM98; ORFNames=UNQ536/PRO1079;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Teramoto T.;
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=11230166; DOI=10.1101/gr.GR1547R;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
RA Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
RA Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
RA Wambutt R., Korn B., Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and
RT analysis of 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale
RT effort to identify novel human secreted and transmembrane proteins: a
RT bioinformatics assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP TISSUE SPECIFICITY, AND VARIANT NNO4 PRO-193.
RX PubMed=24852644; DOI=10.1001/jamaophthalmol.2014.946;
RA Awadalla M.S., Burdon K.P., Souzeau E., Landers J., Hewitt A.W.,
RA Sharma S., Craig J.E.;
RT "Mutation in TMEM98 in a large white kindred with autosomal dominant
RT nanophthalmos linked to 17p12-q12.";
RL JAMA Ophthalmol. 132:970-977(2014).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in the eye, particularly in corneal
CC endothelium, iris, ciliary body, sclera, optic nerve, optic nerve
CC head, and retina. {ECO:0000269|PubMed:24852644}.
CC -!- DISEASE: Nanophthalmos 4 (NNO4) [MIM:615972]: A rare disorder of
CC eye development characterized by extreme hyperopia
CC (farsightedness) and small functional eyes. The cornea and lens
CC are normal in size and shape. Hyperopia occurs because
CC insufficient growth along the visual axis places these lensing
CC components too close to the retina. Nanophthalmic eyes show
CC considerable thickening of both the choroidal vascular bed and
CC scleral coat, which provide nutritive and structural support for
CC the retina. {ECO:0000269|PubMed:24852644}. Note=The disease is
CC caused by mutations affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TMEM98 family. {ECO:0000305}.
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DR EMBL; AF132000; AAD22105.1; -; mRNA.
DR EMBL; AL117619; CAB56018.1; -; mRNA.
DR EMBL; AY358573; AAQ88936.1; -; mRNA.
DR EMBL; CR457125; CAG33406.1; -; mRNA.
DR EMBL; CH471147; EAW80219.1; -; Genomic_DNA.
DR EMBL; CH471147; EAW80220.1; -; Genomic_DNA.
DR EMBL; BC000526; AAH00526.1; -; mRNA.
DR CCDS; CCDS11274.1; -.
DR PIR; T17328; T17328.
DR RefSeq; NP_001028676.1; NM_001033504.1.
DR RefSeq; NP_001288675.1; NM_001301746.1.
DR RefSeq; NP_056359.2; NM_015544.2.
DR UniGene; Hs.3447; -.
DR ProteinModelPortal; Q9Y2Y6; -.
DR SMR; Q9Y2Y6; -.
DR BioGrid; 117492; 15.
DR IntAct; Q9Y2Y6; 4.
DR MINT; Q9Y2Y6; -.
DR STRING; 9606.ENSP00000378138; -.
DR iPTMnet; Q9Y2Y6; -.
DR PhosphoSitePlus; Q9Y2Y6; -.
DR SwissPalm; Q9Y2Y6; -.
DR BioMuta; TMEM98; -.
DR DMDM; 74735246; -.
DR EPD; Q9Y2Y6; -.
DR PaxDb; Q9Y2Y6; -.
DR PeptideAtlas; Q9Y2Y6; -.
DR PRIDE; Q9Y2Y6; -.
DR DNASU; 26022; -.
DR Ensembl; ENST00000394642; ENSP00000378138; ENSG00000006042.
DR Ensembl; ENST00000579849; ENSP00000463245; ENSG00000006042.
DR GeneID; 26022; -.
DR KEGG; hsa:26022; -.
DR UCSC; uc002hhq.4; human.
DR CTD; 26022; -.
DR DisGeNET; 26022; -.
DR EuPathDB; HostDB:ENSG00000006042.11; -.
DR GeneCards; TMEM98; -.
DR HGNC; HGNC:24529; TMEM98.
DR HPA; HPA040473; -.
DR HPA; HPA053385; -.
DR MalaCards; TMEM98; -.
DR MIM; 615949; gene.
DR MIM; 615972; phenotype.
DR neXtProt; NX_Q9Y2Y6; -.
DR OpenTargets; ENSG00000006042; -.
DR Orphanet; 35612; Nanophthalmia.
DR PharmGKB; PA142670747; -.
DR eggNOG; ENOG410IIT4; Eukaryota.
DR eggNOG; ENOG410ZMUV; LUCA.
DR GeneTree; ENSGT00390000012062; -.
DR HOGENOM; HOG000220854; -.
DR HOVERGEN; HBG079813; -.
DR InParanoid; Q9Y2Y6; -.
DR OMA; LVVVCRH; -.
DR OrthoDB; EOG091G0QX1; -.
DR PhylomeDB; Q9Y2Y6; -.
DR TreeFam; TF336444; -.
DR GeneWiki; TMEM98; -.
DR GenomeRNAi; 26022; -.
DR PRO; PR:Q9Y2Y6; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000006042; -.
DR CleanEx; HS_TMEM98; -.
DR ExpressionAtlas; Q9Y2Y6; baseline and differential.
DR Genevisible; Q9Y2Y6; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR029668; TMEM98.
DR PANTHER; PTHR32510; PTHR32510; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Disease mutation; Membrane; Polymorphism;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 226 Transmembrane protein 98.
FT /FTId=PRO_0000251711.
FT TRANSMEM 4 24 Helical. {ECO:0000255}.
FT VARIANT 83 83 W -> R (in dbSNP:rs35124349).
FT /FTId=VAR_051451.
FT VARIANT 193 193 A -> P (in NNO4; dbSNP:rs587777690).
FT {ECO:0000269|PubMed:24852644}.
FT /FTId=VAR_071807.
FT CONFLICT 104 104 L -> P (in Ref. 2; CAB56018).
FT {ECO:0000305}.
FT CONFLICT 196 196 H -> R (in Ref. 2; CAB56018).
FT {ECO:0000305}.
SQ SEQUENCE 226 AA; 24611 MW; 4F9997AD8FD3DD0F CRC64;
METVVIVAIG VLATIFLASF AALVLVCRQR YCRPRDLLQR YDSKPIVDLI GAMETQSEPS
ELELDDVVIT NPHIEAILEN EDWIEDASGL MSHCIAILKI CHTLTEKLVA MTMGSGAKMK
TSASVSDIIV VAKRISPRVD DVVKSMYPPL DPKLLDARTT ALLLSVSHLV LVTRNACHLT
GGLDWIDQSL SAAEEHLEVL REAALASEPD KGLPGPEGFL QEQSAI
//