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Beschreibung

Protein polybromo-1 (UniProt: Q86U86, also known as hPB1, BRG1-associated factor 180, BAF180, Polybromo-1D) is encoded by the PBRM1 (also known as BAF180, PB1) gene (Gene ID: 55193) in human. BAF180 is a large, chromatin-remodeling protein that contains six bromodomains, two BAH-domains, and one HMG-box. Bromodomains recognize and bind to acetylated lysines, the BAH (bromo-adjacent homology) domains mediate protein protein interactions, and the HMG-box domain binds to DNA. Nine isoforms of BAF180 have been described that are produced by alternative splicing. BAF180 serves as a subunit of the SWI/SNF complex and plays critical roles in the regulation of chromatin remodeling and gene transcription, and is reported to be frequently mutated in several human cancers. BAF180 acts asa negative regulator of cell proliferation and plays a role in suppression of tumorigenesis through its ability to regulate both baseline and signal-dependent p21 transcription by its binding of the p21 promoter. Mutations in PBRM1 gene are known to cause renal cell carcinoma. (Ref.: Lee, H., et al. (2016). Oncotarget 7(15),19134-46, Gao, W., et al. (2017). Proc. Natl. Acad. Sci. USA. 114(5):1027-1032).