ID GAGD2_HUMAN STANDARD; PRT; 160 AA. AC Q9HD64; Q8WWG5; Q8WWG6; Q969J6; DT 16-OCT-2001 (Rel. 40, Created) DT 25-OCT-2004 (Rel. 45, Last sequence update) DT 24-JAN-2006 (Rel. 49, Last annotation update) DE G antigen family D 2 protein (XAGE-1 protein). GN Name=XAGE1; Synonyms=GAGED2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE (ISOFORM B). RC TISSUE=Testis; RX MEDLINE=20441565; PubMed=10987281; RA Liu X.F., Helman L.J., Yeung C., Bera T.K., Lee B., Pastan I.; RT "XAGE-1, a new gene that is frequently expressed in Ewing's sarcoma."; RL Cancer Res. 60:4752-4755(2000). RN [2] RP NUCLEOTIDE SEQUENCE (ISOFORMS B; C AND D). RX MEDLINE=22021429; PubMed=11992404; DOI=10.1002/ijc.10371; RA Zendman A.J.W., Van Kraats A.A., Weidle U.H., Ruiter D.J., RA Van Muijen G.N.P.; RT "The XAGE family of cancer/testis-associated genes: alignment and RT expression profile in normal tissues, melanoma lesions and Ewing's RT sarcoma."; RL Int. J. Cancer 99:361-369(2002). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B). RC TISSUE=Lung; 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 [4] RP TISSUE SPECIFICITY, AND ISOFORM B INITIATOR METHIONINE. RX PubMed=12479262; RA Egland K.A., Kumar V., Duray P., Pastan I.; RT "Characterization of overlapping XAGE-1 transcripts encoding a cancer RT testis antigen expressed in lung, breast, and other types of RT cancers."; RL Mol. Cancer Ther. 1:441-450(2002). CC -!- FUNCTION: Unknown. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=C; Synonyms=XAGE-1c; CC IsoId=Q9HD64-3; Sequence=Displayed; CC Name=B; Synonyms=XAGE-1a, XAGE-1b; CC IsoId=Q9HD64-2; Sequence=VSP_001595; CC Note=XAGE-1a and XAGE-1b mRNAs are produced by alternative CC promoter usage. However, for both isoforms, the translation CC initiator codon remains the same, generating an identical CC protein. XAGE-1b is the predominant transcript, compared to CC XAGE-1a; CC Name=D; Synonyms=XAGE-1d; CC IsoId=Q9HD64-4; Sequence=VSP_001595, VSP_001596; CC -!- TISSUE SPECIFICITY: In normal tissues, highly expressed in testis. CC Expressed also in many different types of cancers: highly CC expressed in breast cancer, prostate cancer and many types of lung CC cancers, including squamous cell carcinoma, small cell carcinoma, CC non-small cell carcinoma, and adenocarcinoma, as well as in CC Ewing's cell lines, in some Ewing's sarcoma patient samples, and CC in one of one alveolar rhabdomyosarcoma patient sample. CC -!- SIMILARITY: Belongs to the GAGE family. 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; AF251237; AAG01401.1; ALT_INIT; mRNA. DR EMBL; AJ318878; CAC82986.1; -; mRNA. DR EMBL; AJ318879; CAC82987.1; -; mRNA. DR EMBL; AJ290447; CAC38107.1; -; mRNA. DR EMBL; AJ400997; CAC38108.1; -; Genomic_DNA. DR EMBL; BC009538; AAH09538.1; -; mRNA. DR Ensembl; ENSG00000183461; Homo sapiens. DR HGNC; HGNC:4111; XAGE1. DR MIM; 300289; -. DR LinkHub; Q9HD64; -. DR InterPro; IPR008625; GAGE. DR Pfam; PF05831; GAGE; 1. KW Alternative splicing. FT VARSPLIC 1 79 Missing (in isoform B and isoform D). FT /FTId=VSP_001595. FT VARSPLIC 112 160 CATWKVICKSCISQTPGINLDLGSGVKVKIIPKEEHCKMPE FT AGEEQPQV -> VLGREMRDMEGDLQELHQSNTGDKSGFGF FT RRQGEDNT (in isoform D). FT /FTId=VSP_001596. SQ SEQUENCE 160 AA; 17751 MW; 8EF00D22A67008A7 CRC64; MRCHAHGPSC LVTAITREEG GPRSGGAQAK LGCCWGYPSP RSTWNPDRRF WTPQTGPGEG RHERHTQTQN HTASPRSPVM ESPKKKNQQL KVGILHLGSR QKKIRIQLRS QCATWKVICK SCISQTPGIN LDLGSGVKVK IIPKEEHCKM PEAGEEQPQV //