XAGE1_HUMAN
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 03-AUG-2022, entry version 163.
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 {ECO:0000312|HGNC:HGNC:4111};
GN Synonyms=GAGED2 {ECO:0000312|HGNC:HGNC:4111},
GN XAGE1 {ECO:0000312|HGNC:HGNC:4111};
GN and
GN Name=XAGE1B {ECO:0000312|HGNC:HGNC:25400};
GN Synonyms=XAGE1C {ECO:0000312|HGNC:HGNC:25400},
GN XAGE1D {ECO:0000312|HGNC:HGNC:25400}, XAGE1E {ECO:0000312|HGNC:HGNC:25400};
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] (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 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., 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 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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP TISSUE SPECIFICITY, AND IDENTIFICATION OF INITIATOR METHIONINE (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 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 in
RT testis and tumors.";
RL Cancer Immun. 7:5-5(2007).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-20, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [9]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-12; LYS-61 AND LYS-65, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- INTERACTION:
CC Q9HD64; Q8N9N5: BANP; NbExp=3; IntAct=EBI-2340004, EBI-744695;
CC Q9HD64; Q8N488: RYBP; NbExp=3; IntAct=EBI-2340004, EBI-752324;
CC Q9HD64; Q9Y6X0: SETBP1; NbExp=3; IntAct=EBI-2340004, EBI-2548259;
CC Q9HD64; Q9H2G4: TSPYL2; NbExp=3; IntAct=EBI-2340004, EBI-947459;
CC Q9HD64; Q8IY57: YAF2; NbExp=3; IntAct=EBI-2340004, EBI-2842031;
CC Q9HD64; P25490: YY1; NbExp=3; IntAct=EBI-2340004, EBI-765538;
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 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 expressed in
CC breast cancer, prostate cancer and many types of lung cancers,
CC including squamous cell carcinoma, small cell carcinoma, non-small cell
CC carcinoma, and adenocarcinoma, as well as in Ewing's cell lines, in
CC some Ewing's sarcoma patient samples, and in one of one alveolar
CC rhabdomyosarcoma patient sample. {ECO:0000269|PubMed:12479262,
CC 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 promoter,
CC and four alternative RNA splicing variants, XAGE-1a, b, c have been
CC identified.
CC -!- MISCELLANEOUS: [Isoform B]: XAGE-1a and XAGE-1b mRNAs are produced by
CC alternative promoter usage. However, for both isoforms, the translation
CC initiator codon remains the same, generating an identical protein.
CC XAGE-1b is the predominant transcript, compared to XAGE-1a.
CC -!- SIMILARITY: Belongs to the GAGE family. {ECO:0000305}.
CC -!- CAUTION: PubMed:17335148, examines the translation products of theses
CC four XAGE1A transcripts, and finds that the XAGE-1c transcript is
CC possibly translated to 9- and 17-aa polypeptides and not to a protein
CC consisting of 160 amino acids as shown in PubMed:11992404.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG01401.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH09538.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAC82986.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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};
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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; -; NOT_ANNOTATED_CDS; 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 RefSeq; XP_016885236.1; XM_017029747.1.
DR RefSeq; XP_016885238.1; XM_017029749.1.
DR AlphaFoldDB; Q9HD64; -.
DR BioGRID; 575500; 12.
DR BioGRID; 575617; 43.
DR IntAct; Q9HD64; 44.
DR STRING; 9606.ENSP00000364752; -.
DR ChEMBL; CHEMBL4295952; -.
DR iPTMnet; Q9HD64; -.
DR PhosphoSitePlus; Q9HD64; -.
DR BioMuta; HGNC:18372; -.
DR DMDM; 334302901; -.
DR EPD; Q9HD64; -.
DR MassIVE; Q9HD64; -.
DR MaxQB; Q9HD64; -.
DR PaxDb; Q9HD64; -.
DR PeptideAtlas; Q9HD64; -.
DR PRIDE; Q9HD64; -.
DR ProteomicsDB; 81838; -. [Q9HD64-2]
DR ProteomicsDB; 81839; -. [Q9HD64-4]
DR Antibodypedia; 26426; 74 antibodies from 21 providers.
DR Antibodypedia; 54311; 15 antibodies from 4 providers.
DR DNASU; 9503; -.
DR Ensembl; ENST00000375600.5; ENSP00000364750.1; ENSG00000204379.11. [Q9HD64-4]
DR Ensembl; ENST00000375602.2; ENSP00000364752.1; ENSG00000204379.11. [Q9HD64-2]
DR Ensembl; ENST00000375613.7; ENSP00000364763.3; ENSG00000204382.12. [Q9HD64-4]
DR Ensembl; ENST00000375616.6; ENSP00000364766.1; ENSG00000204382.12. [Q9HD64-2]
DR Ensembl; ENST00000518075.1; ENSP00000430130.1; ENSG00000204382.12. [Q9HD64-2]
DR GeneID; 653067; -.
DR GeneID; 653220; -.
DR KEGG; hsa:653067; -.
DR KEGG; hsa:653220; -.
DR MANE-Select; ENST00000375602.2; ENSP00000364752.1; NM_001097594.3; NP_001091063.2.
DR MANE-Select; ENST00000375616.6; ENSP00000364766.1; NM_001097604.3; NP_001091073.2.
DR UCSC; uc004dqf.4; human. [Q9HD64-2]
DR CTD; 653067; -.
DR CTD; 653220; -.
DR DisGeNET; 653067; -.
DR DisGeNET; 653220; -.
DR GeneCards; XAGE1A; -.
DR GeneCards; XAGE1B; -.
DR HGNC; HGNC:4111; XAGE1A.
DR HGNC; HGNC:25400; XAGE1B.
DR HPA; ENSG00000204379; Tissue enriched (testis).
DR HPA; ENSG00000204382; Tissue enriched (testis).
DR MIM; 300289; gene.
DR MIM; 300742; gene.
DR neXtProt; NX_Q9HD64; -.
DR OpenTargets; ENSG00000204382; -.
DR VEuPathDB; HostDB:ENSG00000204379; -.
DR VEuPathDB; HostDB:ENSG00000204382; -.
DR eggNOG; ENOG502SZKH; Eukaryota.
DR GeneTree; ENSGT00940000153097; -.
DR HOGENOM; CLU_2573264_0_0_1; -.
DR InParanoid; Q9HD64; -.
DR OMA; NCASERP; -.
DR OrthoDB; 1462302at2759; -.
DR TreeFam; TF342350; -.
DR PathwayCommons; Q9HD64; -.
DR SignaLink; Q9HD64; -.
DR BioGRID-ORCS; 653067; 8 hits in 203 CRISPR screens.
DR BioGRID-ORCS; 653220; 14 hits in 197 CRISPR screens.
DR Pharos; Q9HD64; Tbio.
DR PRO; PR:Q9HD64; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9HD64; protein.
DR Bgee; ENSG00000204379; Expressed in right testis and 70 other tissues.
DR Genevisible; Q9HD64; HS.
DR InterPro; IPR008625; GAGE_fam.
DR PANTHER; PTHR14047; PTHR14047; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Isopeptide bond; Phosphoprotein; Reference proteome;
KW Ubl conjugation.
FT CHAIN 1..81
FT /note="X antigen family member 1"
FT /id="PRO_0000148349"
FT MOD_RES 20
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CROSSLNK 12
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 61
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 65
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 33..81
FT /note="CATWKVICKSCISQTPGINLDLGSGVKVKIIPKEEHCKMPEAGEEQPQV ->
FT VLGREMRDMEGDLQELHQSNTGDKSGFGFRRQGEDNT (in isoform D)"
FT /evidence="ECO:0000303|PubMed:11992404"
FT /id="VSP_001596"
SQ SEQUENCE 81 AA; 9078 MW; C73337C4C94C01D1 CRC64;
MESPKKKNQQ LKVGILHLGS RQKKIRIQLR SQCATWKVIC KSCISQTPGI NLDLGSGVKV
KIIPKEEHCK MPEAGEEQPQ V
