ID MAGE1_HUMAN Reviewed; 957 AA. AC Q9HCI5; Q5JXC7; Q86TG0; Q8TD92; Q9H216; DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot. DT 19-JUL-2004, sequence version 2. DT 22-FEB-2023, entry version 147. DE RecName: Full=Melanoma-associated antigen E1; DE AltName: Full=Alpha-dystrobrevin-associated MAGE Protein; DE Short=DAMAGE; DE AltName: Full=Hepatocellular carcinoma-associated protein 1; DE AltName: Full=MAGE-E1 antigen; GN Name=MAGEE1; Synonyms=HCA1, KIAA1587; 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 [MRNA]. RA Dong X.-Y., Chen W.-F.; RT "Identification of genes in the chromosome X that are differentially RT expressed in hepatocellular carcinoma."; RL Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain; RX PubMed=10997877; DOI=10.1093/dnares/7.4.271; RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XVIII. The RT complete sequences of 100 new cDNA clones from brain which code for large RT proteins in vitro."; RL DNA Res. 7:273-281(2000). RN [3] 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., 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 [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [5] 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 [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASP-339. RC TISSUE=PNS; 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 [7] RP NUCLEOTIDE SEQUENCE [MRNA] OF 548-664. RC TISSUE=Testis; RA Lucas S., Boon T.; RT "Identification of new genes of the MAGE family."; RL Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases. RN [8] RP FUNCTION, AND INTERACTION WITH TRIM28. 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 VARIANTS [LARGE SCALE ANALYSIS] PHE-640 AND ASN-664. 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). RN [10] RP VARIANT CYS-305. RX PubMed=23092983; DOI=10.1038/tp.2012.102; RA Nava C., Lamari F., Heron D., Mignot C., Rastetter A., Keren B., Cohen D., RA Faudet A., Bouteiller D., Gilleron M., Jacquette A., Whalen S., Afenjar A., RA Perisse D., Laurent C., Dupuits C., Gautier C., Gerard M., Huguet G., RA Caillet S., Leheup B., Leboyer M., Gillberg C., Delorme R., Bourgeron T., RA Brice A., Depienne C.; RT "Analysis of the chromosome X exome in patients with autism spectrum RT disorders identified novel candidate genes, including TMLHE."; RL Transl. Psychiatry 2:E179-E179(2012). CC -!- FUNCTION: May enhance ubiquitin ligase activity of RING-type zinc CC finger-containing E3 ubiquitin-protein ligases. Proposed to act through CC recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at CC the E3:substrate complex. {ECO:0000269|PubMed:20864041}. CC -!- SUBUNIT: Interacts with DTNA (By similarity). Interacts with TRIM28. CC {ECO:0000250, ECO:0000269|PubMed:20864041}. CC -!- INTERACTION: CC Q9HCI5; Q96D98: EID2B; NbExp=4; IntAct=EBI-949966, EBI-724968; CC Q9HCI5; P23508: MCC; NbExp=3; IntAct=EBI-949966, EBI-307531; CC Q9HCI5; Q13263: TRIM28; NbExp=2; IntAct=EBI-949966, EBI-78139; CC Q9HCI5; Q93009: USP7; NbExp=3; IntAct=EBI-949966, EBI-302474; CC -!- SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250}. CC Nucleus {ECO:0000250}. Cell membrane {ECO:0000250}. Note=In the CC skeletal muscle, found at the postsynaptic membrane and is associated CC with a subset of myonuclei. May reside within nuclei and/or in CC perinuclear compartments. In peripheral nerves, colocalizes with DTNA CC in the Schwann cell membrane (By similarity). {ECO:0000250}. CC -!- SEQUENCE CAUTION: CC Sequence=BAB13413.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; 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; AF490507; AAM08354.1; -; mRNA. DR EMBL; AB046807; BAB13413.1; ALT_INIT; mRNA. DR EMBL; AK291270; BAF83959.1; -; mRNA. DR EMBL; AL096827; CAI42970.1; -; Genomic_DNA. DR EMBL; CH471104; EAW98620.1; -; Genomic_DNA. DR EMBL; BC050588; AAH50588.1; -; mRNA. DR EMBL; AF320909; AAG38605.1; -; mRNA. DR CCDS; CCDS14433.1; -. DR RefSeq; NP_065983.1; NM_020932.2. DR AlphaFoldDB; Q9HCI5; -. DR SMR; Q9HCI5; -. DR BioGRID; 121718; 36. DR IntAct; Q9HCI5; 15. DR STRING; 9606.ENSP00000354912; -. DR iPTMnet; Q9HCI5; -. DR PhosphoSitePlus; Q9HCI5; -. DR BioMuta; MAGEE1; -. DR DMDM; 50428953; -. DR jPOST; Q9HCI5; -. DR MassIVE; Q9HCI5; -. DR PaxDb; Q9HCI5; -. DR PeptideAtlas; Q9HCI5; -. DR ProteomicsDB; 81730; -. DR Antibodypedia; 560; 68 antibodies from 20 providers. DR DNASU; 57692; -. DR Ensembl; ENST00000361470.4; ENSP00000354912.2; ENSG00000198934.5. DR GeneID; 57692; -. DR KEGG; hsa:57692; -. DR MANE-Select; ENST00000361470.4; ENSP00000354912.2; NM_020932.3; NP_065983.1. DR UCSC; uc004ecm.3; human. DR AGR; HGNC:24934; -. DR CTD; 57692; -. DR DisGeNET; 57692; -. DR GeneCards; MAGEE1; -. DR HGNC; HGNC:24934; MAGEE1. DR HPA; ENSG00000198934; Tissue enhanced (brain). DR MIM; 300759; gene. DR neXtProt; NX_Q9HCI5; -. DR OpenTargets; ENSG00000198934; -. DR PharmGKB; PA164741999; -. DR VEuPathDB; HostDB:ENSG00000198934; -. DR eggNOG; KOG4562; Eukaryota. DR GeneTree; ENSGT00940000163182; -. DR HOGENOM; CLU_012911_0_0_1; -. DR InParanoid; Q9HCI5; -. DR OMA; CTPVEYE; -. DR OrthoDB; 3128316at2759; -. DR PhylomeDB; Q9HCI5; -. DR TreeFam; TF328505; -. DR PathwayCommons; Q9HCI5; -. DR SignaLink; Q9HCI5; -. DR BioGRID-ORCS; 57692; 11 hits in 770 CRISPR screens. DR GenomeRNAi; 57692; -. DR Pharos; Q9HCI5; Tbio. DR PRO; PR:Q9HCI5; -. DR Proteomes; UP000005640; Chromosome X. DR RNAct; Q9HCI5; protein. DR Bgee; ENSG00000198934; Expressed in endothelial cell and 176 other tissues. DR Genevisible; Q9HCI5; HS. DR GO; GO:0030425; C:dendrite; ISS:UniProtKB. DR GO; GO:0005634; C:nucleus; ISS:UniProtKB. DR GO; GO:0048471; C:perinuclear region of cytoplasm; ISS:UniProtKB. DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB. DR GO; GO:0045211; C:postsynaptic membrane; ISS:UniProtKB. 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; 2. DR Gene3D; 1.10.10.1210; MAGE homology domain, winged helix WH2 motif; 2. DR InterPro; IPR037445; MAGE. DR InterPro; IPR041898; MAGE_WH1. DR InterPro; IPR041899; MAGE_WH2. DR InterPro; IPR002190; MHD_dom. DR PANTHER; PTHR11736:SF9; MELANOMA-ASSOCIATED ANTIGEN E1; 1. DR PANTHER; PTHR11736; MELANOMA-ASSOCIATED ANTIGEN MAGE ANTIGEN; 1. DR Pfam; PF01454; MAGE; 1. DR SMART; SM01373; MAGE; 2. DR PROSITE; PS50838; MAGE; 2. PE 1: Evidence at protein level; KW Cell membrane; Cytoplasm; Membrane; Nucleus; Reference proteome; Repeat; KW Tumor antigen; Ubl conjugation pathway. FT CHAIN 1..957 FT /note="Melanoma-associated antigen E1" FT /id="PRO_0000156729" FT DOMAIN 491..690 FT /note="MAGE 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00127" FT DOMAIN 745..936 FT /note="MAGE 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00127" FT REGION 1..455 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 743..957 FT /note="Interaction with DTNA" FT /evidence="ECO:0000250" FT COMPBIAS 46..198 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 215..266 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 273..350 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 366..390 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 407..428 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VARIANT 305 FT /note="S -> C (in dbSNP:rs142080557)" FT /evidence="ECO:0000269|PubMed:23092983" FT /id="VAR_076263" FT VARIANT 339 FT /note="E -> D (in dbSNP:rs7051260)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_060071" FT VARIANT 640 FT /note="Y -> F (in a breast cancer sample; somatic FT mutation)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_036585" FT VARIANT 664 FT /note="T -> N (in a breast cancer sample; somatic FT mutation)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_036586" SQ SEQUENCE 957 AA; 103254 MW; E09F9161384CC2B5 CRC64; MSLVSQNSRR RRRRVAKATA HNSSWGEMQA PNAPGLPADV PGSDVPQGPS DSQILQGLCA SEGPSTSVLP TSAEGPSTFV PPTISEASSA SGQPTISEGP GTSVLPTPSE GLSTSGPPTI SKGLCTSVTL AASEGRNTSR PPTSSEEPST SVPPTASEVP STSLPPTPGE GTSTSVPPTA YEGPSTSVVP TPDEGPSTSV LPTPGEGPGT SVPLAATEGL STSVQATPDE GPSTSVPPTA TEGLSTPVPP TRDEGPSTSV PATPGEGPST SVLPAASDGQ SISLVPTRGK GSSTSVPPTA TEGLSTSVQP TAGEGSSTSV PPTPGGGLST SVPPTATEEL STSVPPTPGE GPSTSVLPIP GEGLSTSVPP TASDGSDTSV PPTPGEGAST LVQPTAPDGP GSSVLPNPGE GPSTLFSSSA SVDRNPSKCS LVLPSPRVTK ASVDSDSEGP KGAEGPIEFE VLRDCESPNS ISIMGLNTSR VAITLKPQDP MEQNVAELLQ FLLVKDQSKY PIRESEMREY IVKEYRNQFP EILRRAAAHL ECIFRFELRE LDPEAHTYIL LNKLGPVPFE GLEESPNGPK MGLLMMILGQ IFLNGNQAKE AEIWEMLWRM GVQRERRLSI FGNPKRLLSV EFVWQRYLDY RPVTDCKPVE YEFFWGPRSH LETTKMKILK FMAKIYNKDP MDWPEKYNEA LEEDAARAFA EGWQALPHFR RPFFEEAAAE VPSPDSEVSS YSSKYAPHSW PESRLESKAR KLVQLFLLMD STKLPIPKKG ILYYIGRECS KVFPDLLNRA ARTLNHVYGT ELVVLDPRNH SYTLYNRREM EETEEIVDSP NRPGNNFLMQ VLSFIFIMGN HARESAVWAF LRGLGVQAGR KHVITCRYLS QRYIDSLRVP DSDPVQYEFV WGPRARLETS KMKALRYVAR IHRKEPQDWP QQYREAMEDE ANRADVGHRQ IFVHNFR //