ID MAGC1_HUMAN Reviewed; 1142 AA. AC O60732; A0PK03; O75451; Q8TCV4; DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot. DT 27-JUN-2006, sequence version 3. DT 24-JAN-2024, entry version 160. DE RecName: Full=Melanoma-associated antigen C1; DE AltName: Full=Cancer/testis antigen 7.1; DE Short=CT7.1; DE AltName: Full=MAGE-C1 antigen; GN Name=MAGEC1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS TYR-25; ILE-151 AND RP GLN-327. RC TISSUE=Melanoma; RX PubMed=9485030; RA Lucas S., De Smet C., Arden K.C., Viars C.S., Lethe B.G., Lurquin C., RA Boon T.; RT "Identification of a new MAGE gene with tumor-specific expression by RT representational difference analysis."; RL Cancer Res. 58:743-752(1998). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS ILE-151 AND GLN-327. RC TISSUE=Melanoma; RX PubMed=9618514; DOI=10.1073/pnas.95.12.6919; RA Chen Y.-T., Gure A.O., Tsang S., Stockert E., Jager E., Knuth A., Old L.J.; RT "Identification of multiple cancer/testis antigens by allogeneic antibody RT screening of a melanoma cell line library."; RL Proc. Natl. Acad. Sci. U.S.A. 95:6919-6923(1998). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C., RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., RA Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). 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 project: RT 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., Buerckstuemmer T., RA 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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-63; SER-207; SER-382 AND RP SER-1063, AND 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). CC -!- INTERACTION: CC O60732; P78358: CTAG1B; NbExp=6; IntAct=EBI-1188463, EBI-1188472; CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=O60732-1; Sequence=Displayed; CC Name=2; CC IsoId=O60732-2; Sequence=VSP_056382; CC -!- TISSUE SPECIFICITY: Expressed in testis and in tumors of a wide variety CC of histologic types. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF064589; AAC18837.1; -; Genomic_DNA. DR EMBL; AF056334; AAC24227.1; -; mRNA. DR EMBL; AL022152; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC127771; AAI27772.1; -; mRNA. DR CCDS; CCDS35417.1; -. [O60732-1] DR RefSeq; NP_005453.2; NM_005462.4. [O60732-1] DR RefSeq; XP_011529720.1; XM_011531418.2. [O60732-1] DR AlphaFoldDB; O60732; -. DR SMR; O60732; -. DR BioGRID; 115272; 17. DR IntAct; O60732; 9. DR MINT; O60732; -. DR STRING; 9606.ENSP00000285879; -. DR GlyGen; O60732; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; O60732; -. DR PhosphoSitePlus; O60732; -. DR BioMuta; MAGEC1; -. DR EPD; O60732; -. DR MassIVE; O60732; -. DR MaxQB; O60732; -. DR PaxDb; 9606-ENSP00000285879; -. DR PeptideAtlas; O60732; -. DR ProteomicsDB; 49577; -. [O60732-1] DR ProteomicsDB; 77; -. DR Pumba; O60732; -. DR Antibodypedia; 528; 171 antibodies from 27 providers. DR DNASU; 9947; -. DR Ensembl; ENST00000285879.5; ENSP00000285879.4; ENSG00000155495.9. [O60732-1] DR Ensembl; ENST00000406005.2; ENSP00000385500.2; ENSG00000155495.9. [O60732-2] DR GeneID; 9947; -. DR KEGG; hsa:9947; -. DR MANE-Select; ENST00000285879.5; ENSP00000285879.4; NM_005462.5; NP_005453.2. DR UCSC; uc004fbt.4; human. [O60732-1] DR AGR; HGNC:6812; -. DR CTD; 9947; -. DR DisGeNET; 9947; -. DR GeneCards; MAGEC1; -. DR HGNC; HGNC:6812; MAGEC1. DR HPA; ENSG00000155495; Tissue enriched (testis). DR MIM; 300223; gene. DR neXtProt; NX_O60732; -. DR OpenTargets; ENSG00000155495; -. DR PharmGKB; PA30558; -. DR VEuPathDB; HostDB:ENSG00000155495; -. DR eggNOG; KOG4562; Eukaryota. DR GeneTree; ENSGT00940000164535; -. DR HOGENOM; CLU_277023_0_0_1; -. DR InParanoid; O60732; -. DR OMA; HSQYPQC; -. DR OrthoDB; 4706401at2759; -. DR PhylomeDB; O60732; -. DR TreeFam; TF328505; -. DR PathwayCommons; O60732; -. DR SignaLink; O60732; -. DR BioGRID-ORCS; 9947; 12 hits in 775 CRISPR screens. DR GenomeRNAi; 9947; -. DR Pharos; O60732; Tbio. DR PRO; PR:O60732; -. DR Proteomes; UP000005640; Chromosome X. DR RNAct; O60732; Protein. DR Bgee; ENSG00000155495; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 18 other cell types or tissues. DR GO; GO:0005634; C:nucleus; IBA:GO_Central. DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central. DR Gene3D; 1.10.10.1200; MAGE homology domain, winged helix WH1 motif; 1. DR Gene3D; 1.10.10.1210; MAGE homology domain, winged helix WH2 motif; 1. DR InterPro; IPR037445; MAGE. DR InterPro; IPR041898; MAGE_WH1. DR InterPro; IPR041899; MAGE_WH2. DR InterPro; IPR002190; MHD_dom. DR PANTHER; PTHR11736:SF17; MELANOMA-ASSOCIATED ANTIGEN C1; 1. DR PANTHER; PTHR11736; MELANOMA-ASSOCIATED ANTIGEN MAGE ANTIGEN; 1. DR Pfam; PF01454; MAGE; 1. DR SMART; SM01373; MAGE; 1. DR PROSITE; PS50838; MAGE; 1. DR Genevisible; O60732; HS. PE 1: Evidence at protein level; KW Alternative splicing; Phosphoprotein; Reference proteome; Repeat; KW Tumor antigen. FT CHAIN 1..1142 FT /note="Melanoma-associated antigen C1" FT /id="PRO_0000156720" FT DOMAIN 908..1106 FT /note="MAGE" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00127" FT REGION 1..132 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 502..778 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 791..893 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 1118..1142 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 11..61 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 70..132 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 502..532 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 547..655 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 663..713 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 732..759 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 809..893 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 1119..1142 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOD_RES 63 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:23186163" FT MOD_RES 207 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:23186163" FT MOD_RES 382 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:23186163" FT MOD_RES 1063 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:23186163" FT VAR_SEQ 1..933 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_056382" FT VARIANT 25 FT /note="C -> Y (in dbSNP:rs176036)" FT /evidence="ECO:0000269|PubMed:9485030" FT /id="VAR_053501" FT VARIANT 151 FT /note="T -> I (in dbSNP:rs176037)" FT /evidence="ECO:0000269|PubMed:9485030, FT ECO:0000269|PubMed:9618514" FT /id="VAR_053502" FT VARIANT 257 FT /note="Q -> H (in dbSNP:rs143440588)" FT /id="VAR_053503" FT VARIANT 276 FT /note="F -> S (in dbSNP:rs75148863)" FT /id="VAR_053504" FT VARIANT 327 FT /note="H -> Q (in dbSNP:rs176047)" FT /evidence="ECO:0000269|PubMed:9485030, FT ECO:0000269|PubMed:9618514" FT /id="VAR_060068" FT VARIANT 709 FT /note="H -> Y (in dbSNP:rs56256227)" FT /id="VAR_062121" FT CONFLICT 221..225 FT /note="TQSTF -> SQRTS (in Ref. 1 and 2)" FT /evidence="ECO:0000305" FT CONFLICT 239 FT /note="P -> S (in Ref. 1 and 2)" FT /evidence="ECO:0000305" FT CONFLICT 252..253 FT /note="FS -> SP (in Ref. 1 and 2)" FT /evidence="ECO:0000305" FT CONFLICT 264 FT /note="A -> P (in Ref. 1 and 2)" FT /evidence="ECO:0000305" FT CONFLICT 267 FT /note="S -> P (in Ref. 1 and 2)" FT /evidence="ECO:0000305" FT CONFLICT 274 FT /note="P -> R (in Ref. 1 and 2)" FT /evidence="ECO:0000305" FT CONFLICT 281..283 FT /note="VSL -> LSI (in Ref. 1 and 2)" FT /evidence="ECO:0000305" FT CONFLICT 299 FT /note="P -> A (in Ref. 1 and 2)" FT /evidence="ECO:0000305" FT CONFLICT 309..311 FT /note="SSS -> PSF (in Ref. 2; AAC24227)" FT /evidence="ECO:0000305" FT CONFLICT 316..318 FT /note="LSL -> VSI (in Ref. 2; AAC24227)" FT /evidence="ECO:0000305" FT CONFLICT 337 FT /note="L -> P (in Ref. 2; AAC24227)" FT /evidence="ECO:0000305" FT CONFLICT 342..343 FT /note="MT -> VS (in Ref. 2; AAC24227)" FT /evidence="ECO:0000305" FT CONFLICT 353 FT /note="I -> L (in Ref. 2; AAC24227)" FT /evidence="ECO:0000305" FT CONFLICT 360..361 FT /note="SA -> RT (in Ref. 2; AAC24227)" FT /evidence="ECO:0000305" FT CONFLICT 467 FT /note="H -> Q (in Ref. 1; AAC18837)" FT /evidence="ECO:0000305" SQ SEQUENCE 1142 AA; 123643 MW; 6C9AE820156F3C50 CRC64; MGDKDMPTAG MPSLLQSSSE SPQSCPEGED SQSPLQIPQS SPESDDTLYP LQSPQSRSEG EDSSDPLQRP PEGKDSQSPL QIPQSSPEGD DTQSPLQNSQ SSPEGKDSLS PLEISQSPPE GEDVQSPLQN PASSFFSSAL LSIFQSSPES TQSPFEGFPQ SVLQIPVSAA SSSTLVSIFQ SSPESTQSPF EGFPQSPLQI PVSRSFSSTL LSIFQSSPER TQSTFEGFAQ SPLQIPVSPS SSSTLLSLFQ SFSERTQSTF EGFAQSSLQI PVSPSFSSTL VSLFQSSPER TQSTFEGFPQ SPLQIPVSSS SSSTLLSLFQ SSPERTHSTF EGFPQSLLQI PMTSSFSSTL LSIFQSSPES AQSTFEGFPQ SPLQIPGSPS FSSTLLSLFQ SSPERTHSTF EGFPQSPLQI PMTSSFSSTL LSILQSSPES AQSAFEGFPQ SPLQIPVSSS FSYTLLSLFQ SSPERTHSTF EGFPQSPLQI PVSSSSSSST LLSLFQSSPE CTQSTFEGFP QSPLQIPQSP PEGENTHSPL QIVPSLPEWE DSLSPHYFPQ SPPQGEDSLS PHYFPQSPPQ GEDSLSPHYF PQSPQGEDSL SPHYFPQSPP QGEDSMSPLY FPQSPLQGEE FQSSLQSPVS ICSSSTPSSL PQSFPESSQS PPEGPVQSPL HSPQSPPEGM HSQSPLQSPE SAPEGEDSLS PLQIPQSPLE GEDSLSSLHF PQSPPEWEDS LSPLHFPQFP PQGEDFQSSL QSPVSICSSS TSLSLPQSFP ESPQSPPEGP AQSPLQRPVS SFFSYTLASL LQSSHESPQS PPEGPAQSPL QSPVSSFPSS TSSSLSQSSP VSSFPSSTSS SLSKSSPESP LQSPVISFSS STSLSPFSEE SSSPVDEYTS SSDTLLESDS LTDSESLIES EPLFTYTLDE KVDELARFLL LKYQVKQPIT KAEMLTNVIS RYTGYFPVIF RKAREFIEIL FGISLREVDP DDSYVFVNTL DLTSEGCLSD EQGMSQNRLL ILILSIIFIK GTYASEEVIW DVLSGIGVRA GREHFAFGEP RELLTKVWVQ EHYLEYREVP NSSPPRYEFL WGPRAHSEVI KRKVVEFLAM LKNTVPITFP SSYKDALKDV EERAQAIIDT TDDSTATESA SSSVMSPSFS SE //