MAGE1_HUMAN
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 03-AUG-2022, entry version 144.
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};
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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; 35.
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 PRIDE; 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 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; 1195799at2759; -.
DR PhylomeDB; Q9HCI5; -.
DR TreeFam; TF328505; -.
DR PathwayCommons; Q9HCI5; -.
DR SignaLink; Q9HCI5; -.
DR BioGRID-ORCS; 57692; 10 hits in 696 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; -; 2.
DR Gene3D; 1.10.10.1210; -; 2.
DR InterPro; IPR037445; MAGE.
DR InterPro; IPR041898; MAGE_WH1.
DR InterPro; IPR041899; MAGE_WH2.
DR InterPro; IPR002190; MHD_dom.
DR PANTHER; PTHR11736; PTHR11736; 5.
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
