BRIP1 Gene: BRCA1 Interacting Protein C-Terminal Helicase 1
Key player in DNA repair and breast cancer susceptibility
Gene Information Card
| Symbol | BRIP1 |
|---|---|
| Full Name | BRCA1 interacting protein C-terminal helicase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q23.2 |
| NCBI Gene ID | 83990 ncbi.nlm.nih.gov/gene/83990 |
| Ensembl ID | ENSG00000136492 |
| UniProt ID | Q9BX63 |
| OMIM ID | 605882 |
| HGNC ID | 20473 |
| Aliases | BACH1, FANCJ, OF, C17orf30 |
Description
BRIP1 (BRCA1 interacting protein C-terminal helicase 1) encodes a member of the RecQ DEAH helicase family. The protein interacts with the BRCT repeats of BRCA1 and is essential for DNA double-strand break repair and homologous recombination. It also functions in the Fanconi anemia pathway, contributing to interstrand crosslink repair. Mutations in BRIP1 are associated with Fanconi anemia complementation group J and increased risk of breast and ovarian cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group J | Loss-of-function mutations impair DNA interstrand crosslink repair, leading to bone marrow failure and cancer predisposition. | OMIM #609054; ClinVar |
| Breast cancer (susceptibility) | Truncating mutations increase risk of early-onset breast cancer via defective homologous recombination. | OMIM #114480; ClinVar |
| Ovarian cancer (susceptibility) | Pathogenic variants in BRIP1 confer moderate risk for epithelial ovarian cancer. | OMIM #167000; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Bone marrow | 6.5 | Medium |
| Ovary | 5.1 | Low |
| Breast | 4.3 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.1 | Cervical cancer cell line |
| MCF7 | 6.8 | Breast cancer cell line |
| K562 | 5.9 | Leukemia cell line |
| A549 | 4.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2392C>T (p.Arg798Ter) | Nonsense | Rare | Loss of function; truncation of helicase domain |
| c.2992C>T (p.Arg998Ter) | Nonsense | Rare | Loss of function; associated with Fanconi anemia |
| c.2040_2041insTT (p.Ile681PhefsTer5) | Frameshift | Rare | Loss of function; breast cancer risk |
Mutation functional classification
Loss of Function (LOF)
Majority of pathogenic mutations are loss-of-function, impairing helicase activity and DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established; most mutations act via haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Homologous recombination (Reactome: R-HSA-5693571)
• Fanconi anemia pathway (Reactome: R-HSA-6783310)
• BRCA1-dependent DNA damage response (Reactome: R-HSA-5693606)
Protein Summary
BRIP1 is a 1249-amino acid protein with an N-terminal helicase domain and a C-terminal BRCA1-interacting region. It unwinds DNA in a 5' to 3' direction and is recruited to sites of DNA damage via interaction with BRCA1. The protein is essential for maintaining genomic stability and is a component of the Fanconi anemia core complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRIP1 Knockout HEK293 Cell Line | EDC90251 | Human | 83990 | Details Get a Quote |
| BRIP1 Knockout A-549 Cell Line | EDJ-KQ22164 | Human | 83990 | Details Get a Quote |
| BRIP1 Knockout HCT 116 Cell Line | EDJ-KQ22165 | Human | 83990 | Details Get a Quote |
| BRIP1 Knockout HeLa Cell Line | EDJ-KQ22166 | Human | 83990 | Details Get a Quote |
