BAGE1_HUMAN
ID BAGE1_HUMAN Reviewed; 43 AA.
AC Q13072; A4IF47;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1996, sequence version 1.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=B melanoma antigen 1;
DE Short=B melanoma antigen;
DE AltName: Full=Antigen MZ2-BA;
DE AltName: Full=Cancer/testis antigen 2.1;
DE Short=CT2.1;
DE Flags: Precursor;
GN Name=BAGE; Synonyms=BAGE1;
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 1).
RC TISSUE=Melanoma;
RX PubMed=7895173; DOI=10.1016/s1074-7613(95)80053-0;
RA Boel P., Wildmann C., Sensi M.L., Brasseur R., Renauld J.-C., Coulie P.,
RA Boon T., van der Bruggen P.;
RT "BAGE: a new gene encoding an antigen recognized on human melanomas by
RT cytolytic T lymphocytes.";
RL Immunity 2:167-175(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [3]
RP ALTERNATIVE SPLICING.
RX PubMed=12461691; DOI=10.1038/sj.ejhg.5200891;
RA Ruault M., van der Bruggen P., Brun M.-E., Boyle S., Roizes G.,
RA De Sario A.;
RT "New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric
RT regions of human chromosomes 13 and 21 have a cancer/testis expression
RT profile.";
RL Eur. J. Hum. Genet. 10:833-840(2002).
CC -!- FUNCTION: Unknown. Antigen recognized on a melanoma by autologous
CC cytolytic T-lymphocytes.
CC -!- INTERACTION:
CC Q13072; Q92993: KAT5; NbExp=3; IntAct=EBI-25884811, EBI-399080;
CC Q13072; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-25884811, EBI-11742507;
CC Q13072; P17252: PRKCA; NbExp=3; IntAct=EBI-25884811, EBI-1383528;
CC Q13072; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-25884811, EBI-9090795;
CC Q13072; P61981: YWHAG; NbExp=3; IntAct=EBI-25884811, EBI-359832;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=1;
CC Comment=At least 6 different mRNAs, BAGE1a, BAGE1b, BAGE1c, BAGE1d,
CC BAGE1e and BAGE1f, are produced by alternative splicing. They differ
CC in the 3' region, but give rise to the same protein sequence.
CC {ECO:0000269|PubMed:12461691};
CC Name=1; Synonyms=BAGE1a;
CC IsoId=Q13072-1; Sequence=Displayed;
CC -!- TISSUE SPECIFICITY: Not expressed in normal tissues, except in testis.
CC Expressed with significant proportion in melanomas, but also in tumors
CC of various histological origins, such as bladder carcinomas, head and
CC neck squamous cell carcinomas, lung and breast carcinomas. Not
CC expressed in renal, colorectal and prostatic carcinomas, leukemias and
CC lymphomas. More frequently expressed in metastatic melanomas than in
CC primary melanomas.
CC -!- MISCELLANEOUS: The ancestral BAGE gene was generated by
CC juxtacentromeric reshuffling of the KMT2C/MLL3 gene. The BAGE family
CC was expanded by juxtacentromeric movement and/or acrocentric exchanges.
CC BAGE family is composed of expressed genes that map to the
CC juxtacentromeric regions of chromosomes 13 and 21 and of unexpressed
CC gene fragments that scattered in the juxtacentromeric regions of
CC several chromosomes, including chromosomes 9, 13, 18 and 21.
CC -!- SIMILARITY: Belongs to the BAGE family. {ECO:0000305}.
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DR EMBL; U19180; AAC50123.1; -; mRNA.
DR EMBL; AF499647; AAP30743.1; -; Genomic_DNA.
DR EMBL; AF527550; AAO32670.1; -; mRNA.
DR EMBL; AF527551; AAO32671.1; -; mRNA.
DR EMBL; AF527552; AAO32672.1; -; mRNA.
DR EMBL; AF527553; AAO32673.1; -; mRNA.
DR EMBL; AF527554; AAO32674.1; -; mRNA.
DR EMBL; BC107038; AAI07039.1; -; mRNA.
DR RefSeq; NP_001178.1; NM_001187.1. [Q13072-1]
DR AlphaFoldDB; Q13072; -.
DR BioGRID; 107050; 2.
DR IntAct; Q13072; 5.
DR BioMuta; HGNC:942; -.
DR DMDM; 5915765; -.
DR MassIVE; Q13072; -.
DR PRIDE; Q13072; -.
DR DNASU; 574; -.
DR GeneID; 574; -.
DR KEGG; hsa:574; -.
DR CTD; 574; -.
DR DisGeNET; 574; -.
DR GeneCards; BAGE; -.
DR HGNC; HGNC:942; BAGE.
DR MIM; 605167; gene.
DR neXtProt; NX_Q13072; -.
DR PharmGKB; PA25242; -.
DR PhylomeDB; Q13072; -.
DR PathwayCommons; Q13072; -.
DR SignaLink; Q13072; -.
DR BioGRID-ORCS; 574; 11 hits in 97 CRISPR screens.
DR GenomeRNAi; 574; -.
DR Pharos; Q13072; Tdark.
DR PRO; PR:Q13072; -.
DR Proteomes; UP000005640; Unplaced.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR InterPro; IPR012530; BAGE-like.
DR Pfam; PF08180; BAGE; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome; Secreted; Signal.
FT SIGNAL 1..17
FT /evidence="ECO:0000255"
FT CHAIN 18..43
FT /note="B melanoma antigen 1"
FT /id="PRO_0000020774"
SQ SEQUENCE 43 AA; 4810 MW; 36F3BBCE4012F1BB CRC64;
MAARAVFLAL SAQLLQARLM KEESPVVSWR LEPEDGTALC FIF