AlphaFold predicted structure
BRIP1 · Q9BX63
Mean pLDDT
63.9/ 100
Low
1,249 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)19%
- Low(50–70)4%
- Very low(< 50)43%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
BRIP1
Chr 17q23.2BRCA1 interacting DNA helicase 1
- Aliases:
- OF, BACH1, FANCJ
- MANE:
- ENST00000259008.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours
BIALLELIC, autosomal or pseudoautosomalChildhood solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalConfirmed Fanconi anaemia or Bloom syndrome
BIALLELIC, autosomal or pseudoautosomalCOVID-19 research
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomal
+15 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
Fanconi anemia complementation group J
0.84Fanconi anemia
0.77breast cancer
0.71familial ovarian cancer
0.71hereditary breast carcinoma
0.69Hereditary breast cancer
0.69ovarian cancer
0.62Inherited cancer-predisposing syndrome
0.58Hereditary breast and ovarian cancer syndrome
0.58hereditary neoplastic syndrome
0.58
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Fanconi anemia group J protein
DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability (PubMed:11301010, PubMed:14983014, PubMed:16116421, PubMed:16153896, PubMed:17596542, PubMed:36608669). Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination (PubMed:14983014, PubMed:16153896). Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1 (PubMed:14983014, PubMed:16153896). Involved in the repair of abasic sites at replication forks by promoting the degradation of DNA-protein cross-links: acts by catalyzing 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 (PubMed:16116421, PubMed:36608669). Can unwind RNA:DNA substrates (PubMed:14983014). Unwinds G-quadruplex DNA; unwinding requires a 5'-single stranded tail (PubMed:18426915, PubMed:20639400)
Diseases associated with BRIP1
Curated MONDO disease pages that list BRIP1 among their top associated genes.