ID MAGD1_HUMAN Reviewed; 778 AA. AC Q9Y5V3; Q5VSH6; Q8IZ84; Q8WY92; Q9H352; Q9HBT4; Q9UF36; DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot. DT 26-APR-2005, sequence version 3. DT 12-DEC-2006, entry version 54. DE Melanoma-associated antigen D1 (MAGE-D1 antigen) (Neurotrophin DE receptor-interacting MAGE homolog) (MAGE tumor antigen CCF). GN Name=MAGED1; Synonyms=NRAGE; ORFNames=PRO2292, PP2250; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RX MEDLINE=20439481; PubMed=10985348; DOI=10.1016/S0896-6273(00)00036-2; RA Salehi A.H., Roux P.P., Kubu C.J., Zeindler C., Bhakar A., RA Tannis L.-L., Verdi J.M., Barker P.A.; RT "NRAGE, a novel MAGE protein, interacts with the p75 neurotrophin RT receptor and facilitates nerve growth factor dependent apoptosis."; RL Neuron 27:279-288(2000). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RC TISSUE=Placenta; RX PubMed=15094062; DOI=10.1016/S0014-5793(04)00353-9; RA Wen C.-J., Xue B., Qin W.-X., Yu M., Zhang M.-Y., Zhao D.-H., Gao X., RA Gu J.-R., Li C.-J.; RT "hNRAGE, a human neurotrophin receptor interacting MAGE homologue, RT regulates p53 transcriptional activity and inhibits cell RT proliferation."; RL FEBS Lett. 564:171-176(2004). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RA Chen Y.; RT "Identification and characterization of a new member of the MAGE gene RT family."; RL Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases. 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., RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S., RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., RA 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., RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., RA 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., RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., RA 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., RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., RA Williams G., Williams L., Williamson A., Williamson H., Wilming L., RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., RA 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., RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R., Hubbard T., RA Gibbs R.A., Beck S., 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] (ISOFORMS 1 AND 2). RC TISSUE=Blood, and Skin; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP NUCLEOTIDE SEQUENCE [MRNA] OF 202-778 (ISOFORM 1). RC TISSUE=Bone marrow; RX MEDLINE=99339980; PubMed=10409427; DOI=10.1006/geno.1999.5870; RA Pold M., Zhou J., Chen G.L., Hall J.M., Vescio R.A., Berenson J.R.; RT "Identification of a new, unorthodox member of the MAGE gene family."; RL Genomics 59:161-167(1999). RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 304-778. RC TISSUE=Testis; RG The German cDNA consortium; RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases. RN [8] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 396-778. RC TISSUE=Fetal liver; RX MEDLINE=21177478; PubMed=11280991; RA Zhang C.G., Xing G.C., Wei H.D., Yu Y.T., He F.C.; RT "A new melanoma antigen-encoding gene subfamily in human chromosome RT X."; RL Yi Chuan Xue Bao 28:197-203(2001). RN [9] RP IDENTIFICATION OF THE TRANSLATIONAL INITIATION CODON. RX MEDLINE=20541720; PubMed=11087672; DOI=10.1006/geno.2000.6356; RA Kubu C.J., Goldhawk D.G., Barker P.A., Verdi J.M.; RT "Identification of the translational initiation codon in human RT MAGED1."; RL Genomics 70:150-152(2000). CC -!- FUNCTION: Involved in the apoptotic response after nerve growth CC factor (NGF) binding in neuronal cells. Binds p75NTR and CC antagonizes its association with TrkA, inhibits cell cycle CC progression, and facilitates p75NTR-mediated apoptosis. May act as CC a regulator of the function of DLX family members. May regulate CC p53 transcriptional activity and inhibit cell proliferation. CC Enhances p53 phosphorylation and accumulation. CC -!- SUBUNIT: Interacts with DLX5, DLX7 and MSX2 and forms CC homomultimers. Interacts with UNC5A (By similarity). Interacts CC with the p75 neurotrophin receptor. CC -!- SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; peripheral CC membrane protein. Expression shifts from the cytoplasm to the CC plasma membrane upon stimulation with NGF (By similarity). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q9Y5V3-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9Y5V3-2; Sequence=VSP_009286; CC Note=No experimental confirmation available; CC -!- TISSUE SPECIFICITY: Expressed in bone marrow stromal cells from CC both multiple myeloma patients and healthy donors. Seems to be CC ubiquitously expressed. CC -!- SIMILARITY: Contains 1 MAGE domain. 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; AF217963; AAG09704.1; -; mRNA. DR EMBL; AF258554; AAG23757.1; -; mRNA. DR EMBL; AF300328; AAQ14483.1; -; mRNA. DR EMBL; AL929410; CAH71560.1; -; Genomic_DNA. DR EMBL; AL929410; CAH71561.1; -; Genomic_DNA. DR EMBL; BC014070; AAH14070.1; -; mRNA. DR EMBL; BC032473; AAH32473.1; -; mRNA. DR EMBL; AF124440; AAD31421.1; ALT_INIT; mRNA. DR EMBL; AL133628; CAB63752.1; -; mRNA. DR EMBL; AF132205; AAG35551.1; ALT_INIT; mRNA. DR PIR; T43464; T43464. DR UniGene; Hs.5258; -. DR GermOnline; ENSG00000179222; Homo sapiens. DR Ensembl; ENSG00000179222; Homo sapiens. DR KEGG; hsa:9500; -. DR HGNC; HGNC:6813; MAGED1. DR MIM; 300224; gene. DR ArrayExpress; Q9Y5V3; -. DR RZPD-ProtExp; IOH21710; -. DR RZPD-ProtExp; M0765; -. DR RZPD-ProtExp; T1916; -. DR RZPD-ProtExp; T4510; -. DR InterPro; IPR002190; MAGE. DR Pfam; PF01454; MAGE; 1. DR PROSITE; PS50838; MAGE; 1. KW Alternative splicing; Repeat; Tumor antigen. FT CHAIN 1 778 Melanoma-associated antigen D1. FT /FTId=PRO_0000156723. FT REPEAT 296 301 1. FT REPEAT 302 307 2. FT REPEAT 308 313 3. FT REPEAT 332 337 4. FT REPEAT 338 343 5. FT REPEAT 344 349 6. FT REPEAT 350 355 7. FT REPEAT 356 361 8. FT REPEAT 362 367 9. FT REPEAT 368 373 10. FT REPEAT 374 379 11. FT REPEAT 380 385 12. FT REPEAT 386 391 13. FT REPEAT 392 397 14. FT REPEAT 398 403 15. FT REPEAT 404 409 16. FT REPEAT 410 415 17. FT REPEAT 416 421 18. FT REPEAT 422 427 19. FT REPEAT 428 432 20; approximate. FT REPEAT 433 438 21. FT REPEAT 439 444 22. FT DOMAIN 471 669 MAGE. FT REGION 296 444 22 X 6 AA tandem repeats of W-[PQ]-X-P-X- FT X. FT COMPBIAS 279 452 Pro-rich. FT VAR_SEQ 15 15 Q -> QNPDACRAVCHPLPQPPASTLPLSAFPTLCDPPYSQ FT LRDPPAVLSCYCTPLGASPAP (in isoform 2). FT /FTId=VSP_009286. FT CONFLICT 119 119 P -> S (in Ref. 1). SQ SEQUENCE 778 AA; 86161 MW; D818690052D166CE CRC64; MAQKMDCGAG LLGFQAEASV EDSALLMQTL MEAIQISEAP PTNQATAAAS PQSSQPPTAN EMADIQVSAA AARPKSAFKV QNATTKGPNG VYDFSQAHNA KDVPNTQPKA AFKSQNATPK GPNAAYDFSQ AATTGELAAN KSEMAFKAQN ATTKVGPNAT YNFSQSLNAN DLANSRPKTP FKAWNDTTKA PTADTQTQNV NQAKMATSQA DIETDPGISE PDGATAQTSA DGSQAQNLES RTIIRGKRTR KINNLNVEEN SSGDQRRAPL AAGTWRSAPV PVTTQNPPGA PPNVLWQTPL AWQNPSGWQN QTARQTPPAR QSPPARQTPP AWQNPVAWQN PVIWPNPVIW QNPVIWPNPI VWPGPVVWPN PLAWQNPPGW QTPPGWQTPP GWQGPPDWQG PPDWPLPPDW PLPPDWPLPT DWPLPPDWIP ADWPIPPDWQ NLRPSPNLRP SPNSRASQNP GAAQPRDVAL LQERANKLVK YLMLKDYTKV PIKRSEMLRD IIREYTDVYP EIIERACFVL EKKFGIQLKE IDKEEHLYIL ISTPESLAGI LGTTKDTPKL GLLLVILGVI FMNGNRASEA VLWEALRKMG LRPGVRHPLL GDLRKLLTYE FVKQKYLDYR RVPNSNPPEY EFLWGLRSYH ETSKMKVLRF IAEVQKRDPR DWTAQFMEAA DEALDALDAA AAEAEARAEA RTRMGIGDEA VSGPWSWDDI EFELLTWDEE GDFGDPWSRI PFTFWARYHQ NARSRFPQTF AGPIIGPGGT ASANFAANFG AIGFFWVE //