BRIP1 Gene Summary [Human]
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | BRIP1 |
| Official Name | BRCA1 interacting protein C-terminal helicase 1 [Source:HGNC Symbol;Acc:HGNC:20473] |
| Ensembl ID | ENSG00000136492 |
| Bio databases IDs | |
| Aliases | BRCA1 interacting protein C-terminal helicase 1, BRCA1 interacting helicase 1, BRCA1/BRCA2-associated helicase 1, FANCJ helicase, BRCA1-associated C-terminal helicase, BRCA1 interacting protein 1 |
| Synonyms | 3110009N10Rik, 8030460J03Rik, BACH1, BRCA1 interacting DNA helicase 1, BRCA1 interacting protein C-terminal helicase 1, FACJ, FANCJ, OF |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BRIP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DNA repair helicase (rad3)
- helicase C-terminal domain
- BRCA1-binding domain
- helicase superfamily c-terminal domain
- N-terminal helicase domain of the DEAD-box helicase superfamily
- chromatin binding
- enzyme
- DEAD-like helicases superfamily
- protein binding
- P-loop containing Nucleoside Triphosphate Hydrolases
- DNA helicase
Pathways
Biological processes and signaling networks where the BRIP1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- breast cancer
- colorectal cancer
- epithelial neoplasia
- cancer
- epithelial cancer
- colon cancer
- gastric cancer
- hereditary cancer-predisposing syndrome
- hereditary breast and/or ovarian cancer
role in cell
- formation in
- phosphorylation in
- proliferation
- replication in
- cell viability
- colony survival
- killing
- cisplatin sensitivity
- development
- spreading
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
- nuclear envelope
- replication fork
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BRIP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- spermatid development
- negative regulation of cell proliferation
- spermatogonial cell division
- nucleotide-excision repair
- response to toxin
- regulation of transcription from RNA polymerase II promoter
- double-strand break repair
- chiasma assembly
- cellular response to vitamin
- negative regulation of gene expression
- DNA damage checkpoint
- seminiferous tubule development
- DNA duplex unwinding
- meiotic DNA double-strand break processing involved in reciprocal meiotic recombination
- cellular response to hypoxia
- reciprocal DNA recombination
Cellular Component
Where in the cell the gene product is active
- replication fork
- nucleus
- nuclear membrane
- cytoplasm
- BRCA1-B complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA binding
- DNA helicase activity
- protein binding
- RNA helicase activity
- metal ion binding
- chromatin binding
- 4 iron, 4 sulfur cluster binding
- 5'-3' DNA helicase activity