BRIP1
BRIP1 (Fanconi anaemia group J protein) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Gastric & gastro-oesophageal junction cancer and 3 more.
Overview
DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anaemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.
CIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Olaparib. Open Targets scores its association with cancer at 0.88 (direct and indirect evidence; datatypes genetic literature 0.84, affected pathway 0.87, literature 0.97, genetic association 0.89, somatic mutation 0.87, animal model 0.54).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · BRIP1 (Fanconi anaemia group J protein) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Gastric & gastro-oesophageal junction cancer and 3 more.
- 1 · What it is
BRIP1 (Fanconi anaemia group J protein) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Gastric & gastro-oesophageal junction cancer and 3 more.
- 2 · What goes wrong in cancer
DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anaemia pathway, after FANCD2 ubiquitination.
- 3 · How drugs use it
No product in this corpus aims at BRIP1 yet. Inhibitors are shaped to fit the enzyme's active site so the reaction the cancer relies on stops.
External identifiers
Sources: HGNC HGNC:20473 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9BX63 (protein name, function text, keywords and locations (REST API)); CIViC gene BRIP1 (1 evidence items, 0 assertions, 1 variants; diseases: Castration-resistant Prostate Carcinoma (GraphQL API, CC0)); Open Targets ENSG00000136492 (association with cancer (MONDO_0004992) 0.88; per-cancer scores at or above 0.5: colorectal cancer 0.51, gastric cancer 0.64, ovarian cancer 0.79, skin cancer 0.52, breast cancer 0.82 (GraphQL API, CC0))
Biology
DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anaemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1. Involved in the repair of abasic sites at replication forks by promoting the degradation of DNA-protein cross-links: acts by catalysing unfolding of HMCES DNA-protein cross-link via its helicase activity, exposing the underlying DNA and enabling cleavage of the DNA-protein adduct by the SPRTN metalloprotease. Can unwind RNA:DNA substrates. Unwinds G-quadruplex DNA; unwinding requires a 5'-single stranded tail. Location: Nucleus; Cytoplasm (UniProt). Locus 17q23.2 (HGNC).
- Breast cancer: Open Targets association 0.82 with breast cancer (MONDO_0007254)
- Ovarian cancer: Open Targets association 0.79 with ovarian cancer (MONDO_0008170)
- Gastric & gastro-oesophageal junction cancer: Open Targets association 0.64 with gastric cancer (MONDO_0001056)
- Prostate cancer: CIViC evidence names this disease
- Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)
- Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword "DNA repair". Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"BRIP1" OR ABSTRACT:"BRIP1" OR TITLE:"BRCA1 interacting DNA helicase 1" OR ABSTRACT:"BRCA1 interacting DNA helicase 1" OR TITLE:"Fanconi anemia group J protein" OR ABSTRACT:"Fanconi anemia group J protein" OR TITLE:"BACH1" OR ABSTRACT:"BACH1" OR TITLE:"FANCJ" OR ABSTRACT:"FANCJ") 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 BRIP1, not a curated reading list.