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Gene Symbol BAP1
Synonyms HUCEP-13 | hucep-6 | KURIS | TPDS1 | UBM2 | UCHL2 | UVM2
Gene Description BAP1, BRCA1 associated protein 1, belongs to the ubiquitin C-terminal hydrolase subfamily and interacts with the RING finger domain of the BRCA1 protein, resulting in deubiquitylation of BARD1 (PMID: 23550303) and is associated with genomic stability (PMID: 31747945). BAP1 germline mutations are associated with mesothelioma and melanoma (PMID: 23550303) and somatic mutations are highest in renal and endometrial cancers (PMID: 27283171).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
8314 3 3p21.1 NM_004656 Tumor suppressor (PMID: 30606230)
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