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PBRM1 (polybromo 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Skin cancer, Biliary tract cancer and 5 more.
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.
CIViC holds 9 clinical evidence items and 0 assertions across 2 variants, naming Nivolumab, Everolimus, Pembrolizumab and Sunitinib and others. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes genetic literature 0.61, affected pathway 0.83, literature 0.99, genetic association 0.63, somatic mutation 0.97). IntOGen calls it a driver in 23 cohorts (1 activating, 22 loss-of-function), covering Renal Clear Cell Carcinoma, Cervical Adenocarcinoma, Cholangiocarcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Gallbladder Cancer and others.
In plain words · PBRM1 (polybromo 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Skin cancer, Biliary tract cancer and 5 more.
PBRM1 (polybromo 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Skin cancer, Biliary tract cancer and 5 more.
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).
No product in this corpus aims at PBRM1 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PBRM1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining endometrial cancer (2 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Skin cancer (all types), Biliary tract cancer (all types), Oesophageal cancer, Mesothelioma, Cervical cancer, Colorectal cancer and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (clear cell renal carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q86U86; CIViC gene PBRM1; IntOGen PBRM1; Human Protein Atlas PBRM1 tissue; Open Targets ENSG00000163939 associations
First described 2000. Earliest sequence paper UniProt cites for the protein: Xue et al, Proc. Natl. Acad. Sci. U.S.A, 2000, "The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes". Source.
Sources: HGNC HGNC:30064 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q86U86 (protein name, function text, keywords and locations (REST API)); CIViC gene PBRM1 (9 evidence items, 0 assertions, 2 variants; diseases: Renal Cell Carcinoma, Clear Cell Renal Cell Carcinoma, Biliary Tract Cancer (GraphQL API, CC0)); Open Targets ENSG00000163939 (association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: renal cell carcinoma 0.74, melanoma 0.64, skin cancer 0.64, biliary tract cancer 0.64 (GraphQL API, CC0)); IntOGen PBRM1 (driver in 23 cohorts (Act 1, LoF 22); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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. Location: Nucleus (UniProt). Locus 3p21.1 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
No normal tissue stained high.
Medium only: colorectal cancer, glioma, head and neck cancer, lymphoma.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"PBRM1" OR ABSTRACT:"PBRM1" OR TITLE:"polybromo 1" OR ABSTRACT:"polybromo 1" OR TITLE:"BAF180" OR ABSTRACT:"BAF180" OR TITLE:"PB1" OR ABSTRACT:"PB1" OR TITLE:"SMARCH1" OR ABSTRACT:"SMARCH1") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about PBRM1, not a curated reading list.
Shares Mesothelioma, Biliary tract cancer (all types), Renal cell carcinoma, Oesophageal cancer.
Shares Biliary tract cancer (all types), Oesophageal cancer, Skin cancer (all types), CIViC.
Shares Mesothelioma, Oesophageal cancer, Skin cancer (all types), IntOGen.
Shares Biliary tract cancer (all types), Oesophageal cancer, Skin cancer (all types), IntOGen.
Shares Biliary tract cancer (all types), Oesophageal cancer, Skin cancer (all types), CIViC.
Shares Mesothelioma, Oesophageal cancer, Skin cancer (all types), IntOGen.
Shares Biliary tract cancer (all types), Oesophageal cancer, Skin cancer (all types), CIViC.
Shares Biliary tract cancer (all types), CIViC, IntOGen, Gastric & gastro-oesophageal junction cancer.