A portion of amino acids 191-326 from the human protein was used as the immunogen for the BAP1 antibody.
The BAP1 gene belongs to the ubiquitin C-terminal hydrolase subfamily of de-ubiquitination enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germ line mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, Uveal melanoma and cutaneous melanoma.
