ID MAGD1_HUMAN STANDARD; PRT; 778 AA. AC Q9Y5V3; Q8IZ84; Q8WY92; Q9H352; Q9HBT4; Q9UF36; DT 16-OCT-2001 (Rel. 40, Created) DT 28-FEB-2003 (Rel. 41, Last sequence update) DT 01-FEB-2005 (Rel. 46, Last annotation update) DE Melanoma-associated antigen D1 (MAGE-D1 antigen) (Neurotrophin DE receptor-interacting MAGE homolog) (PRO2292) (PP2250). GN Name=MAGED1; Synonyms=NRAGE; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE (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 [2] RP NUCLEOTIDE SEQUENCE (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 [3] RP NUCLEOTIDE SEQUENCE (ISOFORM 1), AND VARIANT PRO-119. RA Qin W.X., Zhou X.M., Zhang P.P., Jiang H.Q., Huang Y., Wan D.F., RA Gu J.R.; RT "Novel human cDNA clones with function of inhibiting cancer cell RT growth."; RL Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE (ISOFORMS 1 AND 2), AND VARIANT PRO-119. RC TISSUE=Blood, and Skin; RX MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899; RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G., RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D., RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K., RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F., RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L., RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E., RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C., RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J., RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H., RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W., RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A., RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G., RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C., RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E., RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.; RT "Generation and initial analysis of more than 15,000 full-length human RT and mouse cDNA sequences."; RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002). RN [5] RP NUCLEOTIDE SEQUENCE OF 304-778. RC TISSUE=Testis; RG The German cDNA consortium; RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE 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 I Chuan Hsueh Pao 28:197-203(2001). RN [7] 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. 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: Cytoplasmic. Expression shifts from the CC cytoplasm to the plasma membrane upon stimulation with NGF (By CC 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 -!- CAUTION: Ref.1 sequence differs from that shown due to several CC frameshifts that resulted in a N-terminally truncated protein. 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; AF124440; AAD31421.1; ALT_FRAME. DR EMBL; AF217963; AAG09704.1; -. DR EMBL; AF258554; AAG23757.1; -. DR EMBL; BC014070; AAH14070.1; -. DR EMBL; BC032473; AAH32473.1; -. DR EMBL; AL133628; CAB63752.1; -. DR EMBL; AF132205; AAG35551.1; ALT_INIT. DR PIR; T43464; T43464. DR Ensembl; ENSG00000179222; Homo sapiens. DR Genew; HGNC:6813; MAGED1. DR MIM; 300224; -. DR InterPro; IPR002190; MAGE. DR Pfam; PF01454; MAGE; 1. DR PROSITE; PS50838; MAGE; 1. KW Alternative splicing; Antigen; Multigene family; Polymorphism; Repeat. FT DOMAIN 296 444 22 X 6 AA tandem repeats of W-[PQ]-X-P-X- FT X. 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 VARSPLIC 15 15 Q -> QNPDACRAVCHPLPQPPASTLPLSAFPTLCDPPYSQ FT LRDPPAVLSCYCTPLGASPAP (in isoform 2). FT /FTId=VSP_009286. FT VARIANT 119 119 S -> P. FT /FTId=VAR_017506. SQ SEQUENCE 778 AA; 86151 MW; 0F8BEC7155326FCC CRC64; MAQKMDCGAG LLGFQAEASV EDSALLMQTL MEAIQISEAP PTNQATAAAS PQSSQPPTAN EMADIQVSAA AARPKSAFKV QNATTKGPNG VYDFSQAHNA KDVPNTQPKA AFKSQNATSK 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 //