ID XAGE1_HUMAN Reviewed; 81 AA. AC Q9HD64; A6NJ94; Q5JPN8; Q5JPP0; Q5JPP3; Q8WWG5; Q8WWG6; Q969J6; DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot. DT 31-MAY-2011, sequence version 3. DT 16-SEP-2015, entry version 123. DE RecName: Full=X antigen family member 1; DE Short=XAGE-1; DE AltName: Full=Cancer/testis antigen 12.1; DE Short=CT12.1; DE AltName: Full=G antigen family D member 2; GN Name=XAGE1A; Synonyms=GAGED2, XAGE1; GN and GN Name=XAGE1B; GN and GN Name=XAGE1C; GN and GN Name=XAGE1D; GN and GN Name=XAGE1E; 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 B). RC TISSUE=Testis; RX 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 [GENOMIC DNA / MRNA] (ISOFORMS B AND D). RX 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). RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., RA Phelan M., Farmer A.; RT "Cloning of human full-length CDSs in BD Creator(TM) system donor RT vector."; RL Submitted (MAY-2003) 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.M., 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] (ISOFORM B). 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP TISSUE SPECIFICITY, AND IDENTIFICATION OF INITIATOR METHIONINE RP (ISOFORM B). 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). RN [7] RP TISSUE SPECIFICITY, ALTERNATIVE SPLICING (ISOFORMS B AND D), AND RP IDENTIFICATION OF INITIATOR METHIONINE (ISOFORM B). RX PubMed=17335148; RA Sato S., Noguchi Y., Ohara N., Uenaka A., Shimono M., Nakagawa K., RA Koizumi F., Ishida T., Yoshino T., Shiratori Y., Nakayama E.; RT "Identification of XAGE-1 isoforms: predominant expression of XAGE-1b RT in testis and tumors."; RL Cancer Immun. 7:5-5(2007). CC -!- INTERACTION: CC Q8N9N5:BANP; NbExp=3; IntAct=EBI-2340004, EBI-744695; CC Q9Y6X0:SETBP1; NbExp=3; IntAct=EBI-2340004, EBI-2548259; CC Q8IY57:YAF2; NbExp=3; IntAct=EBI-2340004, EBI-2842031; CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=B; Synonyms=XAGE-1a, XAGE-1b; CC IsoId=Q9HD64-2; Sequence=Displayed; 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_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 {ECO:0000269|PubMed:12479262, ECO:0000269|PubMed:17335148}. CC -!- MISCELLANEOUS: According to PubMed:11992404, the transcription of CC XAGE1A is regulated by methylation of the CpG island in the CC promoter, and four alternative RNA splicing variants, XAGE-1a, b, CC c have been identified. CC -!- SIMILARITY: Belongs to the GAGE family. {ECO:0000305}. CC -!- CAUTION: PubMed:17335148, examines the translation products of CC theses four XAGE1A transcripts, and finds that the XAGE-1c CC transcript is possibly translated to 9- and 17-aa polypeptides and CC not to a protein consisting of 160 amino acids as shown in CC PubMed:11992404. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAG01401.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; CC Sequence=AAH09538.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; CC Sequence=CAC82986.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; CC Sequence=CAI40888.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; CC Sequence=CAI40895.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; CC Sequence=CAI41526.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; CC Sequence=CAI41531.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; CC Sequence=CAI41534.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; 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; AJ290447; CAC38107.1; -; mRNA. DR EMBL; AJ400997; CAC38108.1; -; Genomic_DNA. DR EMBL; AJ318878; CAC82986.1; ALT_INIT; mRNA. DR EMBL; AJ318879; CAC82987.1; -; mRNA. DR EMBL; BT007099; AAP35763.1; -; mRNA. DR EMBL; AL772246; CAI41526.1; ALT_SEQ; Genomic_DNA. DR EMBL; AL772246; CAI41527.1; -; Genomic_DNA. DR EMBL; AL772246; CAI41528.1; -; Genomic_DNA. DR EMBL; AL772246; CAI41530.1; -; Genomic_DNA. DR EMBL; AL772246; CAI41531.1; ALT_SEQ; Genomic_DNA. DR EMBL; AL772246; CAI41532.1; -; Genomic_DNA. DR EMBL; AL772246; CAI41533.1; -; Genomic_DNA. DR EMBL; AL772246; CAI41534.1; ALT_SEQ; Genomic_DNA. DR EMBL; BX088602; CAI40888.1; ALT_SEQ; Genomic_DNA. DR EMBL; BX088602; CAI40889.1; -; Genomic_DNA. DR EMBL; BX088602; CAI40890.1; -; Genomic_DNA. DR EMBL; BX088602; CAI40893.1; -; Genomic_DNA. DR EMBL; BX088602; CAI40894.1; -; Genomic_DNA. DR EMBL; BX088602; CAI40895.1; ALT_SEQ; Genomic_DNA. DR EMBL; BC009538; AAH09538.2; ALT_INIT; mRNA. DR CCDS; CCDS48126.2; -. [Q9HD64-2] DR CCDS; CCDS48128.1; -. [Q9HD64-4] DR CCDS; CCDS75982.1; -. [Q9HD64-2] DR CCDS; CCDS75983.1; -. [Q9HD64-4] DR RefSeq; NP_001091063.2; NM_001097594.2. [Q9HD64-2] DR RefSeq; NP_001091065.1; NM_001097596.2. [Q9HD64-4] DR RefSeq; NP_001091073.2; NM_001097604.2. [Q9HD64-2] DR RefSeq; NP_001091074.1; NM_001097605.2. [Q9HD64-4] DR UniGene; Hs.112208; -. DR UniGene; Hs.546096; -. DR UniGene; Hs.584511; -. DR ProteinModelPortal; Q9HD64; -. DR BioGrid; 575500; 6. DR BioGrid; 575617; 36. DR IntAct; Q9HD64; 4. DR STRING; 9606.ENSP00000364766; -. DR PhosphoSite; Q9HD64; -. DR DMDM; 334302901; -. DR MaxQB; Q9HD64; -. DR PaxDb; Q9HD64; -. DR PRIDE; Q9HD64; -. DR DNASU; 9503; -. DR Ensembl; ENST00000375600; ENSP00000364750; ENSG00000204379. [Q9HD64-4] DR Ensembl; ENST00000375602; ENSP00000364752; ENSG00000204379. [Q9HD64-2] DR Ensembl; ENST00000375613; ENSP00000364763; ENSG00000204382. [Q9HD64-4] DR Ensembl; ENST00000375616; ENSP00000364766; ENSG00000204382. [Q9HD64-2] DR Ensembl; ENST00000518075; ENSP00000430130; ENSG00000204382. [Q9HD64-2] DR GeneID; 653067; -. DR GeneID; 653220; -. DR KEGG; hsa:653067; -. DR KEGG; hsa:653220; -. DR UCSC; uc004dqf.3; human. [Q9HD64-2] DR UCSC; uc004dqg.3; human. [Q9HD64-4] DR CTD; 653067; -. DR CTD; 653220; -. DR GeneCards; GC00U936381; -. DR GeneCards; GC00U936444; -. DR GeneCards; GC0XM052512; -. DR GeneCards; GC0XP052495; -. DR GeneCards; GC0XP052496; -. DR HGNC; HGNC:4111; XAGE1A. DR HGNC; HGNC:25400; XAGE1B. DR HGNC; HGNC:30679; XAGE1C. DR HGNC; HGNC:21508; XAGE1D. DR HGNC; HGNC:18372; XAGE1E. DR MIM; 300289; gene. DR MIM; 300742; gene. DR MIM; 300743; gene. DR MIM; 300744; gene. DR MIM; 300745; gene. DR neXtProt; NX_Q9HD64; -. DR PharmGKB; PA28526; -. DR eggNOG; NOG81371; -. DR GeneTree; ENSGT00390000003361; -. DR InParanoid; Q9HD64; -. DR OMA; VICKSCV; -. DR OrthoDB; EOG78PVBW; -. DR TreeFam; TF342350; -. DR NextBio; 122635; -. DR PRO; PR:Q9HD64; -. DR Proteomes; UP000005640; Chromosome X. DR Bgee; Q9HD64; -. DR CleanEx; HS_XAGE1D; -. DR Genevisible; Q9HD64; HS. DR InterPro; IPR008625; GAGE_fam. DR PANTHER; PTHR14047; PTHR14047; 1. PE 1: Evidence at protein level; KW Alternative splicing; Complete proteome; Reference proteome. FT CHAIN 1 81 X antigen family member 1. FT /FTId=PRO_0000148349. FT VAR_SEQ 33 81 CATWKVICKSCISQTPGINLDLGSGVKVKIIPKEEHCKMPE FT AGEEQPQV -> VLGREMRDMEGDLQELHQSNTGDKSGFGF FT RRQGEDNT (in isoform D). FT {ECO:0000303|PubMed:11992404}. FT /FTId=VSP_001596. SQ SEQUENCE 81 AA; 9078 MW; C73337C4C94C01D1 CRC64; MESPKKKNQQ LKVGILHLGS RQKKIRIQLR SQCATWKVIC KSCISQTPGI NLDLGSGVKV KIIPKEEHCK MPEAGEEQPQ V //