Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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).
Additional content available in CKB BOOST