BAGE3_HUMAN
ID BAGE3_HUMAN Reviewed; 109 AA.
AC Q86Y29;
DT 03-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 25-MAY-2022, entry version 91.
DE RecName: Full=B melanoma antigen 3;
DE AltName: Full=Cancer/testis antigen 2.3;
DE Short=CT2.3;
DE Flags: Precursor;
GN Name=BAGE3;
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].
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=12676563; DOI=10.1016/s0888-7543(03)00025-9;
RA Ruault M., Ventura M., Galtier N., Brun M.-E., Archidiacono N., Roizes G.,
RA De Sario A.;
RT "BAGE genes generated by juxtacentromeric reshuffling in the hominidae
RT lineage are under selective pressure.";
RL Genomics 81:391-399(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-106.
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).
CC -!- FUNCTION: Unknown. Candidate gene encoding tumor antigens.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Not expressed in normal tissues except in testis.
CC Expressed in melanoma, bladder and lung carcinomas.
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; AF339514; AAO32634.1; -; mRNA.
DR EMBL; BC101134; AAI01135.1; -; mRNA.
DR RefSeq; NP_872287.1; NM_182481.1.
DR AlphaFoldDB; Q86Y29; -.
DR BioMuta; HGNC:15728; -.
DR MassIVE; Q86Y29; -.
DR PRIDE; Q86Y29; -.
DR DNASU; 85318; -.
DR GeneID; 85318; -.
DR KEGG; hsa:85318; -.
DR CTD; 85318; -.
DR DisGeNET; 85318; -.
DR GeneCards; BAGE3; -.
DR HGNC; HGNC:15728; BAGE3.
DR MIM; 617777; gene.
DR neXtProt; NX_Q86Y29; -.
DR PharmGKB; PA25244; -.
DR InParanoid; Q86Y29; -.
DR PathwayCommons; Q86Y29; -.
DR BioGRID-ORCS; 85318; 2 hits in 97 CRISPR screens.
DR GenomeRNAi; 85318; -.
DR Pharos; Q86Y29; Tdark.
DR PRO; PR:Q86Y29; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q86Y29; protein.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR InterPro; IPR012530; BAGE-like.
DR Pfam; PF08180; BAGE; 1.
PE 2: Evidence at transcript level;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..17
FT /evidence="ECO:0000255"
FT CHAIN 18..109
FT /note="B melanoma antigen 3"
FT /id="PRO_0000020776"
FT VARIANT 95
FT /note="R -> T (in dbSNP:rs2740327)"
FT /id="VAR_059587"
FT VARIANT 106
FT /note="Q -> R (in dbSNP:rs9808647)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_059588"
FT CONFLICT 72
FT /note="P -> A (in Ref. 3; AAI01135)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 109 AA; 12112 MW; A477B7A8FC3A2F4E CRC64;
MAAGVVFLAL SAQLLQARLM KEESPVVSWR LEPEDGTALD VHFVSTLEPL SNAVKRNVPR
CIIILVLQEP TPFRISVTSS CFVQNTLTKL LKDRRKMQTV QCATAQETS
