PBRM1
Function
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation.
Involvement in disease
Renal cell carcinoma
RCC
Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed.
Cellular localization
- Nucleus
Alternative names
BAF180, PB1, PBRM1, Protein polybromo-1, hPB1, BRG1-associated factor 180, Polybromo-1D