MAGC2_HUMAN
ID MAGC2_HUMAN Reviewed; 373 AA.
AC Q9UBF1; Q5JZ00; Q96D45; Q9P1M6; Q9P1M7;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Melanoma-associated antigen C2;
DE AltName: Full=Cancer/testis antigen 10;
DE Short=CT10;
DE AltName: Full=Hepatocellular carcinoma-associated antigen 587;
DE AltName: Full=MAGE-C2 antigen;
DE AltName: Full=MAGE-E1 antigen;
GN Name=MAGEC2; Synonyms=HCA587, MAGEE1;
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 / MRNA], AND IDENTIFICATION AS A
RP CANCER/TESTIS ANTIGEN.
RX PubMed=10699956;
RX DOI=10.1002/(sici)1097-0215(20000301)85:5<726::aid-ijc21>3.0.co;2-f;
RA Gure A.O., Stockert E., Arden K.C., Boyer A.D., Viars C.S., Scanlan M.J.,
RA Old L.J., Chen Y.-T.;
RT "CT10: a new cancer-testis (CT) antigen homologous to CT7 and the MAGE
RT family, identified by representational difference analysis.";
RL Int. J. Cancer 85:726-732(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
RX PubMed=10861452;
RX DOI=10.1002/1097-0215(20000701)87:1<55::aid-ijc8>3.0.co;2-j;
RA Lucas S., De Plaen E., Boon T.;
RT "MAGE-B5, MAGE-B6, MAGE-C2, and MAGE-C3: four new members of the MAGE
RT family with tumor-specific expression.";
RL Int. J. Cancer 87:55-60(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY, AND
RP IDENTIFICATION AS A CANCER/TESTIS ANTIGEN.
RC TISSUE=Hepatoma;
RX PubMed=12097419; DOI=10.4049/jimmunol.169.2.1102;
RA Wang Y., Han K.-J., Pang X.-W., Vaughan H.A., Qu W., Dong X.-Y.,
RA Peng J.-R., Zhao H.-T., Rui J.-A., Leng X.-S., Cebon J., Burgess A.W.,
RA Chen W.-F.;
RT "Large scale identification of human hepatocellular carcinoma-associated
RT antigens by autoantibodies.";
RL J. Immunol. 169:1102-1109(2002).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Chronic myeloid leukemia cell, and Melanoma;
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 [6]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=12920247; DOI=10.1097/01.lab.0000080605.73839.96;
RA Li B., Qian X.-P., Pang X.-W., Zou W.-Z., Wang Y.-P., Wu H.-Y., Chen W.-F.;
RT "HCA587 antigen expression in normal tissues and cancers: correlation with
RT tumor differentiation in hepatocellular carcinoma.";
RL Lab. Invest. 83:1185-1192(2003).
RN [7]
RP INTERACTION WITH TRIM28.
RX PubMed=17942928; DOI=10.1158/0008-5472.can-07-1478;
RA Yang B., O'Herrin S.M., Wu J., Reagan-Shaw S., Ma Y., Bhat K.M.,
RA Gravekamp C., Setaluri V., Peters N., Hoffmann F.M., Peng H., Ivanov A.V.,
RA Simpson A.J., Longley B.J.;
RT "MAGE-A, mMage-b, and MAGE-C proteins form complexes with KAP1 and suppress
RT p53-dependent apoptosis in MAGE-positive cell lines.";
RL Cancer Res. 67:9954-9962(2007).
RN [8]
RP FUNCTION, INTERACTION WITH TRIM28 AND UBE2H, AND MUTAGENESIS OF
RP 152-LEU-LEU-153.
RX PubMed=20864041; DOI=10.1016/j.molcel.2010.08.029;
RA Doyle J.M., Gao J., Wang J., Yang M., Potts P.R.;
RT "MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases.";
RL Mol. Cell 39:963-974(2010).
RN [9]
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 [10]
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 [11]
RP VARIANT [LARGE SCALE ANALYSIS] CYS-6.
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., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Proposed to enhance ubiquitin ligase activity of RING-type
CC zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances
CC ubiquitin ligase activity of TRIM28 and stimulates p53/TP53
CC ubiquitination in presence of Ubl-conjugating enzyme UBE2H leading to
CC p53/TP53 degradation. Proposed to act through recruitment and/or
CC stabilization of the Ubl-conjugating enzymes (E2) at the E3:substrate
CC complex. {ECO:0000269|PubMed:20864041}.
CC -!- SUBUNIT: Interacts with TRIM28 and UBE2H. {ECO:0000269|PubMed:17942928,
CC ECO:0000269|PubMed:20864041}.
CC -!- INTERACTION:
CC Q9UBF1; Q53GS7: GLE1; NbExp=3; IntAct=EBI-5651487, EBI-1955541;
CC Q9UBF1; Q7Z4N8: P4HA3; NbExp=4; IntAct=EBI-5651487, EBI-10181968;
CC Q9UBF1; Q5JS98: PBX3; NbExp=3; IntAct=EBI-5651487, EBI-10244393;
CC Q9UBF1; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-5651487, EBI-5235340;
CC Q9UBF1; Q16384: SSX1; NbExp=3; IntAct=EBI-5651487, EBI-10237585;
CC Q9UBF1; Q16385: SSX2B; NbExp=3; IntAct=EBI-5651487, EBI-2210673;
CC Q9UBF1; P04637: TP53; NbExp=3; IntAct=EBI-5651487, EBI-366083;
CC Q9UBF1; Q13263: TRIM28; NbExp=14; IntAct=EBI-5651487, EBI-78139;
CC Q9UBF1; Q86WV8: TSC1; NbExp=3; IntAct=EBI-5651487, EBI-12806590;
CC Q9UBF1; P62256: UBE2H; NbExp=3; IntAct=EBI-5651487, EBI-2129909;
CC Q9UBF1; P54577: YARS1; NbExp=3; IntAct=EBI-5651487, EBI-1048893;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12920247}. Nucleus
CC {ECO:0000269|PubMed:12920247}. Note=Nuclear in germ cells. Cytoplasmic
CC in well-differentiated hepatocellular carcinoma, nuclear in
CC moderately- and poorly-differentiated hepatocellular carcinoma.
CC -!- TISSUE SPECIFICITY: Not expressed in normal tissues, except in germ
CC cells in the seminiferous tubules and in Purkinje cells of the
CC cerebellum. Expressed in various tumors, including melanoma, lymphoma,
CC as well as pancreatic cancer, mammary gland cancer, non-small cell lung
CC cancer and liver cancer. In hepatocellular carcinoma, there is an
CC inverse correlation between tumor differentiation and protein
CC expression, i.e. the lower the differentiation, the higher percentage
CC of expression. {ECO:0000269|PubMed:12097419,
CC ECO:0000269|PubMed:12920247}.
CC -!- DEVELOPMENTAL STAGE: Strongly expressed in spermatogonia and primary
CC spermatocytes. At later stages of maturation, expression gradually
CC decreases and becomes undetectable in mature spermatids.
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DR EMBL; AF116194; AAF34816.1; -; mRNA.
DR EMBL; AF116195; AAF34817.1; -; Genomic_DNA.
DR EMBL; AF196482; AAF07210.1; -; mRNA.
DR EMBL; AF196483; AAF07211.1; -; Genomic_DNA.
DR EMBL; AF151378; AAF36533.1; -; mRNA.
DR EMBL; AF239802; AAK15073.1; -; Genomic_DNA.
DR EMBL; AL031073; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC005891; AAH05891.1; -; mRNA.
DR EMBL; BC013318; AAH13318.1; -; mRNA.
DR CCDS; CCDS14678.1; -.
DR RefSeq; NP_057333.1; NM_016249.3.
DR AlphaFoldDB; Q9UBF1; -.
DR SMR; Q9UBF1; -.
DR BioGRID; 119540; 28.
DR IntAct; Q9UBF1; 14.
DR MINT; Q9UBF1; -.
DR STRING; 9606.ENSP00000354660; -.
DR iPTMnet; Q9UBF1; -.
DR PhosphoSitePlus; Q9UBF1; -.
DR BioMuta; MAGEC2; -.
DR DMDM; 17380150; -.
DR jPOST; Q9UBF1; -.
DR MassIVE; Q9UBF1; -.
DR MaxQB; Q9UBF1; -.
DR PaxDb; Q9UBF1; -.
DR PeptideAtlas; Q9UBF1; -.
DR PRIDE; Q9UBF1; -.
DR ProteomicsDB; 83954; -.
DR Antibodypedia; 30560; 162 antibodies from 24 providers.
DR DNASU; 51438; -.
DR Ensembl; ENST00000247452.4; ENSP00000354660.2; ENSG00000046774.10.
DR GeneID; 51438; -.
DR KEGG; hsa:51438; -.
DR MANE-Select; ENST00000247452.4; ENSP00000354660.2; NM_016249.4; NP_057333.1.
DR UCSC; uc004fbu.3; human.
DR CTD; 51438; -.
DR DisGeNET; 51438; -.
DR GeneCards; MAGEC2; -.
DR HGNC; HGNC:13574; MAGEC2.
DR HPA; ENSG00000046774; Tissue enriched (testis).
DR MIM; 300468; gene.
DR neXtProt; NX_Q9UBF1; -.
DR OpenTargets; ENSG00000046774; -.
DR PharmGKB; PA134954317; -.
DR VEuPathDB; HostDB:ENSG00000046774; -.
DR eggNOG; KOG4562; Eukaryota.
DR GeneTree; ENSGT00940000164535; -.
DR HOGENOM; CLU_039582_1_1_1; -.
DR InParanoid; Q9UBF1; -.
DR OMA; YREVPHS; -.
DR OrthoDB; 1195799at2759; -.
DR PhylomeDB; Q9UBF1; -.
DR TreeFam; TF328505; -.
DR PathwayCommons; Q9UBF1; -.
DR SignaLink; Q9UBF1; -.
DR SIGNOR; Q9UBF1; -.
DR BioGRID-ORCS; 51438; 12 hits in 704 CRISPR screens.
DR GeneWiki; MAGEC2; -.
DR GenomeRNAi; 51438; -.
DR Pharos; Q9UBF1; Tbio.
DR PRO; PR:Q9UBF1; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9UBF1; protein.
DR Bgee; ENSG00000046774; Expressed in right testis and 28 other tissues.
DR Genevisible; Q9UBF1; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0031625; F:ubiquitin protein ligase binding; IDA:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0051443; P:positive regulation of ubiquitin-protein transferase activity; IMP:UniProtKB.
DR GO; GO:0030163; P:protein catabolic process; IMP:UniProtKB.
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; 1.
DR SMART; SM01373; MAGE; 1.
DR PROSITE; PS50838; MAGE; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Nucleus; Reference proteome; Tumor antigen;
KW Ubl conjugation pathway.
FT CHAIN 1..373
FT /note="Melanoma-associated antigen C2"
FT /id="PRO_0000156721"
FT DOMAIN 141..336
FT /note="MAGE"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00127"
FT REGION 1..102
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 135..373
FT /note="Interaction with TRIM28"
FT COMPBIAS 41..63
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 6
FT /note="G -> C (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036583"
FT MUTAGEN 152..153
FT /note="LL->AA: Decreases interaction with TRIM28, abolishes
FT in vitro ubiquitination of TP53."
FT /evidence="ECO:0000269|PubMed:20864041"
FT CONFLICT 12
FT /note="V -> A (in Ref. 5; AAH13318)"
FT /evidence="ECO:0000305"
FT CONFLICT 189
FT /note="M -> T (in Ref. 1; AAF34816)"
FT /evidence="ECO:0000305"
FT CONFLICT 334
FT /note="K -> E (in Ref. 1; AAF34816/AAF34817)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 373 AA; 41163 MW; D55867D7972BF49F CRC64;
MPPVPGVPFR NVDNDSPTSV ELEDWVDAQH PTDEEEEEAS SASSTLYLVF SPSSFSTSSS
LILGGPEEEE VPSGVIPNLT ESIPSSPPQG PPQGPSQSPL SSCCSSFSWS SFSEESSSQK
GEDTGTCQGL PDSESSFTYT LDEKVAELVE FLLLKYEAEE PVTEAEMLMI VIKYKDYFPV
ILKRAREFME LLFGLALIEV GPDHFCVFAN TVGLTDEGSD DEGMPENSLL IIILSVIFIK
GNCASEEVIW EVLNAVGVYA GREHFVYGEP RELLTKVWVQ GHYLEYREVP HSSPPYYEFL
WGPRAHSESI KKKVLEFLAK LNNTVPSSFP SWYKDALKDV EERVQATIDT ADDATVMASE
SLSVMSSNVS FSE
