Background
PBRM1/BAF180 is a unique member of the SWI/SNF complex PBAF, which binds to kinetochores in mitotic chromatin. PBAF is involved in nuclear receptor-mediated transcription and retinoic acid driven gene activation. PBRM1/BAF180 has been shown to be a potent tumor suppressor, as it is the second-most mutated gene in renal carcinomas. Mutations of PBRM1/BAF180 have also been shown to be involved in breast cancer, and low expression relates to poorer prognosis. PBRM1/BAF180 is phosphorylated at Ser948 by ATM during DNA damage, which is important for transcriptional silencing and repair around double-stranded breaks.
Cellular location
Nucleus