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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.
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).
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.
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.
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.
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.
Germline variant: UniProt lists Breast cancer (BC) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA BRIP1: RNA tissue enhanced (bone marrow 3 nTPM, lymphoid tissue 3 nTPM); high antibody staining in 23 normal tissues; highest cancer staining melanoma (7 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Gastric & gastro-oesophageal junction cancer, Prostate cancer, Skin cancer (all types), Colorectal cancer); Open Targets associates it with 9 specific cancer types at or above 0.5 (familial ovarian cancer, breast cancer, hereditary breast carcinoma, ovarian cancer, hereditary neoplastic syndrome, hereditary breast ovarian cancer syndrome and more). (Rule 2 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q9BX63; Human Protein Atlas BRIP1 tissue; Open Targets ENSG00000136492 associations
First described 2001. Earliest sequence paper UniProt cites for the protein: Cantor S.B. et al, Cell, 2001, "BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function". Source.
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))
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).
RNA: tissue enhanced (bone marrow 3 nTPM, lymphoid tissue 3 nTPM), detected in some normal tissues.
Medium: Adipose tissue, Appendix, Endometrium, Fallopian tube, Oral mucosa, Ovary, Parathyroid gland, Prostate.
Medium only: stomach cancer, thyroid cancer.
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:"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.
Shares Homologous recombination repair gene mutation in prostate cancer, Skin cancer (all types), CIViC, Gastric & gastro-oesophageal junction cancer.
Shares Homologous recombination repair gene mutation in prostate cancer, CIViC, Gastric & gastro-oesophageal junction cancer, Ovarian cancer.
Shares Homologous recombination repair gene mutation in prostate cancer, CIViC, Gastric & gastro-oesophageal junction cancer, Ovarian cancer.
Shares Homologous recombination repair gene mutation in prostate cancer, Skin cancer (all types), CIViC, Gastric & gastro-oesophageal junction cancer.
Shares Homologous recombination repair gene mutation in prostate cancer, CIViC, Gastric & gastro-oesophageal junction cancer, Ovarian cancer.
Shares Homologous recombination repair gene mutation in prostate cancer, CIViC, Gastric & gastro-oesophageal junction cancer, Ovarian cancer.
Shares Homologous recombination repair gene mutation in prostate cancer, CIViC, Gastric & gastro-oesophageal junction cancer, Ovarian cancer.
Shares Homologous recombination repair gene mutation in prostate cancer, Prostate cancer.