BAP1
小结
BAP1是抑癌基因，编码一种核泛素水解酶(BRCA-associated Protein-1)，参与细胞增殖、DNA修复、基因表达的染色质调控和干细胞多能性等多种细胞过程。通过对宿主细胞因子-1（HCF-1）去泛素化（一种有助于调节转录的染色质相关蛋白）调节细胞增殖。BAP1已被证明通过与HCF-1和YY1转录因子形成三元复合物来调节基因表达，并通过增加G1-S检查点进展来加速细胞死亡。BAP1缺失改变了I类组蛋白去乙酰化酶（HDAC）的表达，这可能导致在BAP1耗尽的癌细胞中对HDAC抑制剂的治疗反应的改变。BAP1的胚系突变倾向引起包括肾癌、葡萄膜黑色素瘤和间皮瘤在内的多种肿瘤，BAP1体细胞突变在这些肿瘤类型以及其他类型中也很常见。
BAP1 (BRCA-associated Protein-1) is a nuclear ubiquitin hydrolase that has been implicated in several cellular processes including cell proliferation, DNA repair, chromatin regulation of gene expression, and stem cell pluripotency. By deubiquitinating host cell factor-1 (HCF-1), a chromatin-associated protein that helps regulate transcription, BAP1 regulates cell proliferation. BAP1 has been shown to regulate gene expression by forming a ternary complex with HCF-1 and the YY1 transcription factor and to enhance cell death by increasing progression through the G1-S checkpoint. BAP1 loss alters class I histone deacetylase (HDAC) expression, which may result in altered therapeutic response to HDAC inhibitors in BAP1-depleted cancer cells . Germline mutations of BAP1 predispose to several tumors including renal cell carcinoma, uveal melanoma and mesothelioma, which suggests that BAP1 is a tumor suppressor. Somatic BAP1 mutations are also common in these tumor types, among others.