BAP1 (BRCA-1 Associated Protein-1) is an 80 kDa protein known to function as a deubiquitinase (DUB); removing ubiquitin modifiers, which alter the function of other proteins via targeted degradation, subcellular localization, or activity (1). By removing ubiquitin, BAP1 helps regulate the function of target proteins involved in diverse cellular processes. Germline mutations in the BAP1 gene have been associated with BAP1 tumor predisposition syndrome, a condition linked to early onset and/or increased risk of multiple types of cancers including uveal melanoma, malignant mesothelioma, cutaneous melanoma, and renal cell carcinoma (2, 3).
1. Citterio E. Fine-tuning the ubiquitin code at DNA double-strand breaks: deubiquitinating enzymes at work. Front Genet. 2015; 6:282. Published 2015 Sep 8. 2. Murali R, Wiesner T, Scolyer RA. Tumours associated with BAP1 mutations. Pathology. 2013 Feb; 45(2):116-26. 3. Walpole S, et al. Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. J Natl Cancer Inst. 2018; 110(12):1328–1341. 4. Center for Disease Control Manual. Guide: Safety Management, NO. CDC-22, Atlanta, GA. April 30, 1976 “Decontamination of Laboratory Sink Drains to Remove Azide Salts.” 5. Clinical and Laboratory Standards Institute (CLSI). Protection of Laboratory Workers from Occupationally Acquired Infections; Approved Guideline-Fourth Edition CLSI document M29-A4 Wayne, PA 2014.