PBRM1
Description
The PBRM1 (polybromo 1) is a protein-coding gene located on chromosome 3.
PBRM1, also known as BRG1-associated factor 180 (BAF180), is a protein encoded by the PBRM1 gene. It is a component of the SWI/SNF-B (PBAF) chromatin-remodeling complex, which helps regulate gene expression by altering the structure of chromatin. PBRM1 is important for cell cycle progression and has been identified as a tumor suppressor gene, particularly in clear cell renal cell carcinoma (ccRCC). Mutations in PBRM1 are frequently found in ccRCC, often alongside mutations in the VHL gene. This combination can lead to increased HIF1α signaling and activation of the NF-κB pathway, promoting tumor growth. While studies suggest that PBRM1 mutations may be associated with better response to immune checkpoint inhibitors in advanced ccRCC, further research is needed to confirm this.
PBRM1 plays a role in regulating gene expression by altering the structure of chromatin, the complex of DNA and proteins that makes up chromosomes. It helps activate or repress specific genes by changing how tightly DNA is packed, influencing the accessibility of genes to transcription factors. PBRM1 is essential for the stability of the SWI/SNF-B (PBAF) chromatin remodeling complex and acts as a negative regulator of cell proliferation, potentially by controlling the expression of genes involved in cell growth and division.
PBRM1 is also known as BAF180, PB1, RCC, SMARCH1.
