MAGC1_HUMAN
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 03-AUG-2022, entry version 152.
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.
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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; 14.
DR IntAct; O60732; 9.
DR MINT; O60732; -.
DR STRING; 9606.ENSP00000285879; -.
DR iPTMnet; O60732; -.
DR PhosphoSitePlus; O60732; -.
DR BioMuta; MAGEC1; -.
DR EPD; O60732; -.
DR MassIVE; O60732; -.
DR MaxQB; O60732; -.
DR PaxDb; O60732; -.
DR PeptideAtlas; O60732; -.
DR PRIDE; O60732; -.
DR ProteomicsDB; 49577; -. [O60732-1]
DR ProteomicsDB; 77; -.
DR Antibodypedia; 528; 144 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 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; HYFPQSP; -.
DR OrthoDB; 1195799at2759; -.
DR PhylomeDB; O60732; -.
DR TreeFam; TF328505; -.
DR PathwayCommons; O60732; -.
DR SignaLink; O60732; -.
DR BioGRID-ORCS; 9947; 11 hits in 701 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 right testis and 16 other tissues.
DR Genevisible; O60732; HS.
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; -; 1.
DR Gene3D; 1.10.10.1210; -; 1.
DR InterPro; IPR037445; MAGE.
DR InterPro; IPR041898; MAGE_WH1.
DR InterPro; IPR041899; MAGE_WH2.
DR InterPro; IPR002190; MHD_dom.
DR PANTHER; PTHR11736; PTHR11736; 10.
DR Pfam; PF01454; MAGE; 1.
DR SMART; SM01373; MAGE; 1.
DR PROSITE; PS50838; MAGE; 1.
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
