PBRM1 gene

polybromo 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]

From UniProt:

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Acts as a negative regulator of cell proliferation.

Covered on Genetics Home Reference:

From UniProt:

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. [MIM:144700]

Cytogenetic Location: 3p21, which is the short (p) arm of chromosome 3 at position 21

Molecular Location: base pairs 52,545,352 to 52,685,933 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p21, which is the short (p) arm of chromosome 3 at position 21
  • BAF180
  • PB1