MAGAC_HUMAN
ID MAGAC_HUMAN Reviewed; 314 AA.
AC P43365; Q6FHH8; Q9NSD3;
DT 01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 2.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Melanoma-associated antigen 12;
DE AltName: Full=Cancer/testis antigen 1.12;
DE Short=CT1.12;
DE AltName: Full=MAGE-12 antigen;
DE AltName: Full=MAGE12F antigen;
GN Name=MAGEA12; Synonyms=MAGE12;
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].
RX PubMed=8276455; DOI=10.1007/bf00188615;
RA De Smet C., Lurquin C., van der Bruggen P., De Plaen E., Brasseur F.,
RA Boon T.;
RT "Sequence and expression pattern of the human MAGE2 gene.";
RL Immunogenetics 39:121-129(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Skin;
RX PubMed=8037761; DOI=10.1006/bbrc.1994.1963;
RA Ding M., Beck R.J., Keller C.J., Fenton R.G.;
RT "Cloning and analysis of MAGE-1-related genes.";
RL Biochem. Biophys. Res. Commun. 202:549-555(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10854409; DOI=10.1101/gr.10.6.758;
RA Mallon A.-M., Platzer M., Bate R., Gloeckner G., Botcherby M.R.M.,
RA Nordsiek G., Strivens M.A., Kioschis P., Dangel A., Cunningham D.,
RA Straw R.N.A., Weston P., Gilbert M., Fernando S., Goodall K., Hunter G.,
RA Greystrong J.S., Clarke D., Kimberley C., Goerdes M., Blechschmidt K.,
RA Rump A., Hinzmann B., Mundy C.R., Miller W., Poustka A., Herman G.E.,
RA Rhodes M., Denny P., Rosenthal A., Brown S.D.M.;
RT "Comparative genome sequence analysis of the Bpa/Str region in mouse and
RT man.";
RL Genome Res. 10:758-775(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Esophagus;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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 [7]
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 [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [10]
RP FUNCTION.
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).
CC -!- FUNCTION: Not known, though may play a role tumor transformation or
CC progression. In vitro promotes cell viability in melanoma cell lines.
CC {ECO:0000269|PubMed:17942928}.
CC -!- INTERACTION:
CC P43365; Q9P2A4: ABI3; NbExp=3; IntAct=EBI-749530, EBI-742038;
CC P43365; Q6PH81: C16orf87; NbExp=6; IntAct=EBI-749530, EBI-6598617;
CC P43365; Q8N3C7: CLIP4; NbExp=6; IntAct=EBI-749530, EBI-5655540;
CC P43365; Q14CZ7: FASTKD3; NbExp=3; IntAct=EBI-749530, EBI-10234819;
CC P43365; Q9BVV2: FNDC11; NbExp=6; IntAct=EBI-749530, EBI-744935;
CC P43365; A0A087WSW0: HELT; NbExp=3; IntAct=EBI-749530, EBI-12057631;
CC P43365; P52789: HK2; NbExp=3; IntAct=EBI-749530, EBI-741469;
CC P43365; Q7Z3B3: KANSL1; NbExp=3; IntAct=EBI-749530, EBI-740244;
CC P43365; Q7Z7F0-4: KHDC4; NbExp=3; IntAct=EBI-749530, EBI-9089060;
CC P43365; Q9H019: MTFR1L; NbExp=6; IntAct=EBI-749530, EBI-2824497;
CC P43365; Q6P444: MTFR2; NbExp=3; IntAct=EBI-749530, EBI-10252703;
CC P43365; P60321: NANOS2; NbExp=7; IntAct=EBI-749530, EBI-10216569;
CC P43365; P01160: NPPA; NbExp=6; IntAct=EBI-749530, EBI-953859;
CC P43365; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-749530, EBI-741158;
CC P43365; Q9UGP5-2: POLL; NbExp=6; IntAct=EBI-749530, EBI-10320765;
CC P43365; P78424: POU6F2; NbExp=3; IntAct=EBI-749530, EBI-12029004;
CC P43365; Q96GD3: SCMH1; NbExp=3; IntAct=EBI-749530, EBI-713793;
CC P43365; Q8N5T2: TBC1D19; NbExp=3; IntAct=EBI-749530, EBI-1221022;
CC P43365; Q9NUJ3: TCP11L1; NbExp=3; IntAct=EBI-749530, EBI-2555179;
CC P43365; Q06732: ZNF33B; NbExp=3; IntAct=EBI-749530, EBI-474142;
CC -!- TISSUE SPECIFICITY: Expressed in many tumors of several types, such as
CC melanoma, head and neck squamous cell carcinoma, lung carcinoma and
CC breast carcinoma, but not in normal tissues except for testes.
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DR EMBL; L18877; AAA19023.1; -; Genomic_DNA.
DR EMBL; U82671; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BT007108; AAP35772.1; -; mRNA.
DR EMBL; CR541775; CAG46574.1; -; mRNA.
DR EMBL; AK314168; BAG36852.1; -; mRNA.
DR EMBL; CH471169; EAW99432.1; -; Genomic_DNA.
DR EMBL; BC003408; AAH03408.1; -; mRNA.
DR CCDS; CCDS76048.1; -.
DR PIR; I54519; I54519.
DR RefSeq; NP_001159858.1; NM_001166386.3.
DR RefSeq; NP_001159859.1; NM_001166387.3.
DR RefSeq; NP_005358.2; NM_005367.6.
DR AlphaFoldDB; P43365; -.
DR SMR; P43365; -.
DR BioGRID; 110285; 33.
DR IntAct; P43365; 23.
DR STRING; 9606.ENSP00000377478; -.
DR iPTMnet; P43365; -.
DR PhosphoSitePlus; P43365; -.
DR BioMuta; MAGEA12; -.
DR DMDM; 14286145; -.
DR jPOST; P43365; -.
DR MassIVE; P43365; -.
DR PaxDb; P43365; -.
DR PeptideAtlas; P43365; -.
DR PRIDE; P43365; -.
DR ProteomicsDB; 55628; -.
DR Antibodypedia; 30746; 138 antibodies from 23 providers.
DR DNASU; 4111; -.
DR Ensembl; ENST00000357916.8; ENSP00000350592.4; ENSG00000213401.10.
DR Ensembl; ENST00000393869.8; ENSP00000377447.3; ENSG00000213401.10.
DR Ensembl; ENST00000393900.4; ENSP00000377478.3; ENSG00000213401.10.
DR GeneID; 4111; -.
DR KEGG; hsa:4111; -.
DR MANE-Select; ENST00000393869.8; ENSP00000377447.3; NM_001166387.4; NP_001159859.1.
DR UCSC; uc004fgc.3; human.
DR CTD; 4111; -.
DR DisGeNET; 4111; -.
DR GeneCards; MAGEA12; -.
DR HGNC; HGNC:6799; MAGEA12.
DR HPA; ENSG00000213401; Tissue enhanced (testis).
DR MIM; 300177; gene.
DR neXtProt; NX_P43365; -.
DR OpenTargets; ENSG00000213401; -.
DR PharmGKB; PA30545; -.
DR VEuPathDB; HostDB:ENSG00000213401; -.
DR eggNOG; KOG4562; Eukaryota.
DR GeneTree; ENSGT00940000164673; -.
DR HOGENOM; CLU_039582_1_1_1; -.
DR InParanoid; P43365; -.
DR OMA; RASECML; -.
DR OrthoDB; 1195799at2759; -.
DR PhylomeDB; P43365; -.
DR TreeFam; TF328505; -.
DR PathwayCommons; P43365; -.
DR SignaLink; P43365; -.
DR BioGRID-ORCS; 4111; 20 hits in 658 CRISPR screens.
DR GeneWiki; MAGEA12; -.
DR GenomeRNAi; 4111; -.
DR Pharos; P43365; Tbio.
DR PRO; PR:P43365; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P43365; protein.
DR Bgee; ENSG00000213401; Expressed in right testis and 42 other tissues.
DR Genevisible; P43365; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0042826; F:histone deacetylase binding; 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; IPR021072; MAGE_N.
DR InterPro; IPR041898; MAGE_WH1.
DR InterPro; IPR041899; MAGE_WH2.
DR InterPro; IPR002190; MHD_dom.
DR PANTHER; PTHR11736; PTHR11736; 1.
DR Pfam; PF01454; MAGE; 1.
DR Pfam; PF12440; MAGE_N; 1.
DR SMART; SM01373; MAGE; 1.
DR SMART; SM01392; MAGE_N; 1.
DR PROSITE; PS50838; MAGE; 1.
PE 1: Evidence at protein level;
KW Reference proteome; Tumor antigen.
FT CHAIN 1..314
FT /note="Melanoma-associated antigen 12"
FT /id="PRO_0000156711"
FT DOMAIN 109..308
FT /note="MAGE"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00127"
FT REGION 1..72
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 33..48
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 57
FT /note="E -> D (in dbSNP:rs16996512)"
FT /id="VAR_053498"
FT CONFLICT 10
FT /note="C -> S (in Ref. 2)"
FT /evidence="ECO:0000305"
FT CONFLICT 187
FT /note="D -> A (in Ref. 1; AAA19023)"
FT /evidence="ECO:0000305"
FT CONFLICT 300
FT /note="S -> P (in Ref. 1; AAA19023)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 314 AA; 34836 MW; 7E00F7CECD8F6568 CRC64;
MPLEQRSQHC KPEEGLEAQG EALGLVGAQA PATEEQETAS SSSTLVEVTL REVPAAESPS
PPHSPQGAST LPTTINYTLW SQSDEGSSNE EQEGPSTFPD LETSFQVALS RKMAELVHFL
LLKYRAREPF TKAEMLGSVI RNFQDFFPVI FSKASEYLQL VFGIEVVEVV RIGHLYILVT
CLGLSYDGLL GDNQIVPKTG LLIIVLAIIA KEGDCAPEEK IWEELSVLEA SDGREDSVFA
HPRKLLTQDL VQENYLEYRQ VPGSDPACYE FLWGPRALVE TSYVKVLHHL LKISGGPHIS
YPPLHEWAFR EGEE
