该基因属于参与从蛋白质中去除泛素的去泛素酶的泛素C末端水解酶亚家族。编码酶通过乳腺癌1型易感性蛋白(BRCA1)的环指域与之结合,并作为肿瘤抑制因子。此外,该酶还可能参与转录调节、细胞周期和生长调节、对DNA损伤的反应和染色质动力学。该基因的种系突变可能与肿瘤易感综合征(TPDS)有关,该综合征会增加癌症的风险,包括恶性间皮瘤、葡萄膜黑色素瘤和皮肤黑色素瘤。
This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating 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. Germline 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.

基因名:BAP1
别名:HUCEP-13,UCHL2,hucep-6
基因ID:8314
Chromosome:
(GRCh37)
3 Start: 52435029 End: 52444366 Strand: -1
信号通路: 侵袭和转移 
靶向药: 依维莫司  Apitolisib  LBH-589  MC1568  Mocetinostat  奥拉帕利  舒尼替尼  曲古抑菌素 A  伏立诺他 
化疗药: 丙戊酸钠