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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PBRM1
polybromo 1
Chromosome 3 · 3p21.1
NCBI Gene: 55193Ensembl: ENSG00000163939.19HGNC: HGNC:30064UniProt: A0A9L9PXL4
230PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription FactorTumor Suppressor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
SWI/SNF complexnegative regulation of cell population proliferationnucleusnucleoplasmclear cell renal carcinomarenal cell carcinomacholangiocarcinomamelanoma
✦AI Summary

PBRM1 encodes a subunit of the PBAF (polybromo-associated BAF) chr3 remodeling complex, a specialized variant of the SWI/SNF complex that regulates gene transcription through ATP-dependent nucleosome remodeling 1. As a tumor suppressor gene, PBRM1 loss-of-function mutations are frequently found in clear cell renal cell carcinoma (ccRCC) and have significant clinical implications 23. Mechanistically, PBRM1 deficiency alters global transcriptional programs, particularly affecting JAK-STAT, hypoxia, and immune signaling pathways 2. In ccRCC, PBRM1 mutations paradoxically associate with improved response to immune checkpoint inhibitors targeting PD-1/PD-L1, with clinical benefit observed in patients harboring PBRM1 loss-of-function mutations 24. These tumors also correlate with high angiogenesis gene expression and improved outcomes with angiogenesis blockade therapies 5. The protein can be therapeutically targeted through PROTAC degraders that simultaneously degrade PBRM1 along with SMARCA2/4 ATPase subunits, inducing anti-proliferative effects in cancer cells 6. PBRM1 mutations represent actionable targets for personalized neoantigen vaccines, demonstrating that driver mutations can generate effective T cell responses against tumors 7.

Sources cited
1
PBRM1 is part of SWI/SNF chromatin remodeling complexes that function as tumor suppressors
PMID: 21654818
2
PBRM1 loss-of-function mutations associate with improved response to PD-1 blockade therapy and alter JAK-STAT, hypoxia, and immune signaling pathways
PMID: 29301960
3
PBRM1 mutations are depleted in CD8+ T cell infiltrated ccRCC tumors and associate with therapeutic response
PMID: 32472114
4
PBRM1 mutations associate with high angiogenesis gene expression and response to angiogenesis blockade
PMID: 33157048
5
PBRM1 is a truncal mutation in ccRCC that may promote genomic instability and DNA repair defects
PMID: 33144689
6
PBRM1 can be targeted for degradation using PROTAC approaches alongside SMARCA2/4
PMID: 31178587
7
PBRM1 mutations can serve as targets for personalized neoantigen vaccines that generate T cell responses
PMID: 39910301
Disease Associationsⓘ21
clear cell renal carcinomaOpen Targets
0.63Moderate
renal cell carcinomaOpen Targets
0.50Moderate
cholangiocarcinomaOpen Targets
0.49Moderate
melanomaOpen Targets
0.45Moderate
cutaneous melanomaOpen Targets
0.44Moderate
Pleural MesotheliomaOpen Targets
0.43Moderate
papillary renal cell carcinomaOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.39Weak
kidney neoplasmOpen Targets
0.38Weak
bile duct adenocarcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
gastric adenocarcinomaOpen Targets
0.32Weak
colorectal adenocarcinomaOpen Targets
0.31Weak
esophageal cancerOpen Targets
0.31Weak
lung adenocarcinomaOpen Targets
0.31Weak
Renal cell carcinomaUniProt
Pathogenic Variants1
NM_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs)Pathogenic
Clear cell carcinoma of kidney
☆☆☆☆2015→ Residue 1348
View on ClinVar ↗
Related Genes
NUP50Protein interaction100%H3C13Protein interaction100%H3-5Protein interaction100%H2BC21Protein interaction100%SMARCA5Protein interaction100%H3C3Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
98%
Brain
95%
Ovary
93%
Lung
71%
Liver
61%
Gene Interaction Network
Click a node to explore
PBRM1NUP50H3C13H3-5H2BC21SMARCA5H3C3
PROTEIN STRUCTURE
Preparing viewer…
PDB6ZNV · 1.14 Å · X-ray
View on RCSB ↗
RankingsWhere PBRM1 stands among ~20K protein-coding genes
  • #1,755of 20,598
    Most Researched230 · top 10%
  • #4,708of 5,498
    Most Pathogenic Variants1
Genes detectedPBRM1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Tumor and immune reprogramming during immunotherapy in advanced renal cell carcinoma.
PMID: 33711272
Cancer Cell · 2021
1.00
2
Interplay of somatic alterations and immune infiltration modulates response to PD-1 blockade in advanced clear cell renal cell carcinoma.
PMID: 32472114
Nat Med · 2020
0.90
3
Molecular Subsets in Renal Cancer Determine Outcome to Checkpoint and Angiogenesis Blockade.
PMID: 33157048
Cancer Cell · 2020
0.80
4
Clear cell renal cell carcinoma ontogeny and mechanisms of lethality.
PMID: 33144689
Nat Rev Nephrol · 2021
0.70
5
Comprehensive molecular characterization of clear cell renal cell carcinoma.
PMID: 23792563
Nature · 2013
0.68