MAGH1_HUMAN
ID MAGH1_HUMAN Reviewed; 219 AA.
AC Q9H213; B2R8V9; Q5JRJ3; Q9Y5M2;
DT 20-JUN-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Melanoma-associated antigen H1;
DE AltName: Full=Apoptosis-related protein 1;
DE Short=APR-1;
DE AltName: Full=MAGE-H1 antigen;
DE AltName: Full=Restin;
GN Name=MAGEH1; Synonyms=APR1;
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].
RC TISSUE=Brain, and Testis;
RX PubMed=11454705;
RA Chomez P., De Backer O., Bertrand M., De Plaen E., Boon T., Lucas S.;
RT "An overview of the MAGE gene family with the identification of all human
RT members of the family.";
RL Cancer Res. 61:5544-5551(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=10948432; DOI=10.2144/00292st06;
RA Zhu F., Yan W., Zhao Z.L., Chai Y.B., Lu F., Wang Q., Peng W.D., Yang A.G.,
RA Wang C.J.;
RT "Improved PCR-based subtractive hybridization strategy for cloning
RT differentially expressed genes.";
RL BioTechniques 29:310-313(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].
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 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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
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).
CC -!- INTERACTION:
CC Q9H213; Q6NT76: HMBOX1; NbExp=3; IntAct=EBI-473834, EBI-2549423;
CC Q9H213; Q92993: KAT5; NbExp=3; IntAct=EBI-473834, EBI-399080;
CC Q9H213; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-473834, EBI-11742507;
CC Q9H213; P17252: PRKCA; NbExp=3; IntAct=EBI-473834, EBI-1383528;
CC Q9H213; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-473834, EBI-9090795;
CC Q9H213; O14492-2: SH2B2; NbExp=3; IntAct=EBI-473834, EBI-19952306;
CC Q9H213; Q15025: TNIP1; NbExp=3; IntAct=EBI-473834, EBI-357849;
CC Q9H213; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-473834, EBI-725997;
CC Q9H213; P61981: YWHAG; NbExp=3; IntAct=EBI-473834, EBI-359832;
CC Q9H213; O15535: ZSCAN9; NbExp=3; IntAct=EBI-473834, EBI-751531;
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DR EMBL; AF320912; AAG38608.1; -; mRNA.
DR EMBL; AF143235; AAD31314.4; -; mRNA.
DR EMBL; AK313527; BAG36306.1; -; mRNA.
DR EMBL; AL590410; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471154; EAW93222.1; -; Genomic_DNA.
DR EMBL; BC011954; AAH11954.1; -; mRNA.
DR CCDS; CCDS14369.1; -.
DR RefSeq; NP_054780.2; NM_014061.4.
DR AlphaFoldDB; Q9H213; -.
DR SMR; Q9H213; -.
DR BioGRID; 118807; 20.
DR IntAct; Q9H213; 18.
DR STRING; 9606.ENSP00000343706; -.
DR iPTMnet; Q9H213; -.
DR PhosphoSitePlus; Q9H213; -.
DR BioMuta; MAGEH1; -.
DR DMDM; 14423761; -.
DR MassIVE; Q9H213; -.
DR PaxDb; Q9H213; -.
DR PeptideAtlas; Q9H213; -.
DR PRIDE; Q9H213; -.
DR ProteomicsDB; 80472; -.
DR Antibodypedia; 568; 154 antibodies from 28 providers.
DR DNASU; 28986; -.
DR Ensembl; ENST00000342972.3; ENSP00000343706.1; ENSG00000187601.5.
DR GeneID; 28986; -.
DR KEGG; hsa:28986; -.
DR MANE-Select; ENST00000342972.3; ENSP00000343706.1; NM_014061.5; NP_054780.2.
DR UCSC; uc004dum.5; human.
DR CTD; 28986; -.
DR DisGeNET; 28986; -.
DR GeneCards; MAGEH1; -.
DR HGNC; HGNC:24092; MAGEH1.
DR HPA; ENSG00000187601; Tissue enriched (epididymis).
DR MIM; 300548; gene.
DR neXtProt; NX_Q9H213; -.
DR OpenTargets; ENSG00000187601; -.
DR PharmGKB; PA128394650; -.
DR VEuPathDB; HostDB:ENSG00000187601; -.
DR eggNOG; KOG4562; Eukaryota.
DR GeneTree; ENSGT00840000130063; -.
DR HOGENOM; CLU_107642_0_0_1; -.
DR InParanoid; Q9H213; -.
DR OMA; YDWDSED; -.
DR OrthoDB; 1195799at2759; -.
DR PhylomeDB; Q9H213; -.
DR TreeFam; TF328505; -.
DR PathwayCommons; Q9H213; -.
DR SignaLink; Q9H213; -.
DR BioGRID-ORCS; 28986; 13 hits in 704 CRISPR screens.
DR ChiTaRS; MAGEH1; human.
DR GeneWiki; MAGEH1; -.
DR GenomeRNAi; 28986; -.
DR Pharos; Q9H213; Tbio.
DR PRO; PR:Q9H213; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9H213; protein.
DR Bgee; ENSG00000187601; Expressed in corpus epididymis and 195 other tissues.
DR Genevisible; Q9H213; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0006915; P:apoptotic process; TAS:ProtInc.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 1.10.10.1210; -; 1.
DR InterPro; IPR037445; MAGE.
DR InterPro; IPR041899; MAGE_WH2.
DR InterPro; IPR002190; MHD_dom.
DR PANTHER; PTHR11736; PTHR11736; 1.
DR Pfam; PF01454; MAGE; 1.
DR SMART; SM01373; MAGE; 1.
DR PROSITE; PS50838; MAGE; 1.
PE 1: Evidence at protein level;
KW Phosphoprotein; Reference proteome; Tumor antigen.
FT CHAIN 1..219
FT /note="Melanoma-associated antigen H1"
FT /id="PRO_0000156735"
FT DOMAIN 1..198
FT /note="MAGE"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00127"
FT REGION 1..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 11..25
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 56..84
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 195
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:Q5PPP4"
SQ SEQUENCE 219 AA; 24441 MW; 408C59F0CCAA6781 CRC64;
MPRGRKSRRR RNARAAEENR NNRKIQASEA SETPMAASVV ASTPEDDLSG PEEDPSTPEE
ASTTPEEASS TAQAQKPSVP RSNFQGTKKS LLMSILALIF IMGNSAKEAL VWKVLGKLGM
QPGRQHSIFG DPKKIVTEEF VRRGYLIYKP VPRSSPVEYE FFWGPRAHVE SSKLKVMHFV
ARVRNRCSKD WPCNYDWDSD DDAEVEAILN SGARGYSAP