BRCA1 Gene Summary [Human]
This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]
Details
| Type | Protein Coding |
| Official Symbol | BRCA1 |
| Official Name | BRCA1 DNA repair associated [Source:HGNC Symbol;Acc:HGNC:1100] |
| Ensembl ID | ENSG00000012048 |
| Bio databases IDs | |
| Aliases | BRCA1 DNA repair associated, BRCA1/BRCA2-containing complex, subunit 1, protein phosphatase 1, regulatory subunit 53, Fanconi anemia, complementation group S |
| Synonyms | BRCA1 DNA repair associated, BRCA1, DNA repair associated, BRCAI, BRCC1, breast cancer 1, early onset, BROVCA1, FANCS, PNCA4, PPP1R53, PSCP, RNF53 |
| 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 BRCA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- C-terminal lipid binding domain
- protein binding activity, bridging
- identical protein binding
- retinoblastoma protein binding domain
- Serine-rich domain associated with BRCT
- p53-binding domain
- zinc-RING finger domain
- ubiquitin protein ligase binding
- BRCT
- activation domain
- nuclear export signal
- nucleic acid binding
- RAD51 binding domain
- linker domain
- Ring finger domain
- protein binding
- sequence-specific DNA binding
- protein binding domain
- spacer domain
- ubiquitin-protein transferase activity
- transcription factor activity
- transcription regulator
- transcription co-activator
- transcription activation domain
- coiled-coil domain
- chromatin binding
- enzyme
- zinc binding domain
- zinc ion binding
- Ring finger
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- BRCA1 C Terminus (BRCT) domain
- breast cancer carboxy-terminal domain
- AD2 domain
- BRCA1-binding domain
- zinc finger of C3HC4-type, RING
- ubiquitin protein ligase activity
- nuclear localization sequence
- enzyme binding
- p53 binding
- activation domain AD1
- DNA binding
- RNA binding
- phosphorylation site
- damaged DNA binding
- RING-type zinc-finger
- Myc binding domain
- double-stranded DNA binding
- zinc finger domain
- Zinc finger, C3HC4 type (RING finger)
Pathways
Biological processes and signaling networks where the BRCA1 gene in human plays a role, providing insight into its function and relevance in health or disease.
- ATM Signaling
- DNA damage-induced 14-3-3σ Signaling
- DNA Double-Strand Break Repair by Homologous Recombination
- Endocannabinoid Developing Neuron Pathway
- GADD45 Signaling
- Glucocorticoid Receptor Signaling
- Hereditary Breast Cancer Signaling
- Molecular Mechanisms of Cancer
- Ovarian Cancer Signaling
- p53 Signaling
- Protein Ubiquitination Pathway
- Role of BRCA1 in DNA Damage Response
- Role of CHK Proteins in Cell Cycle Checkpoint Control
- Role of Oct4 in Mammalian Embryonic Stem Cell Pluripotency
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- liver cholangiocarcinoma
- biliary tract cancer
- small cell lung cancer
- lung cancer
- non-small cell lung cancer
- uterine corpus cancer
- esophageal squamous cell carcinoma
- nasopharyngeal carcinoma
- non-Hodgkin disease
role in cell
- growth
- apoptosis
- cell death
- expression in
- accumulation in
- quantity
- number
- invasion
- production in
- migration
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
- nuclear fraction
- chromatin fraction
- mitochondrial fraction
- mid-section
- organelle
- Cytoplasm
- Plasma Membrane
- centrosome
- Endoplasmic Reticulum
- Mitochondria
- microtubules
- cytosol
- mitochondrial matrix
- nuclear foci
- chromosome
- nucleoplasm
- nuclear bodies
- nuclear rim
- spindle pole
- XY bodies
- sex chromatin
- nuclear speckles
- mitoplasts
- cleavage furrow
- chromatin foci
- centromeres
- synaptonemal complexes
- chromatin
- replication fork
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BRCA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chordate embryonic development
- mitotic cell cycle G2/M transition DNA damage checkpoint
- DNA repair
- centrosome cycle
- regulation of DNA repair
- negative regulation of cell cycle
- chromosome segregation
- positive regulation of transcription from RNA polymerase II promoter
- postreplication repair
- positive regulation of angiogenesis
- double-strand break repair
- dosage compensation
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- negative regulation of cell growth
- cellular response to ionizing radiation
- cellular response to tumor necrosis factor
- regulation of cell cycle
- response to ionizing radiation
- positive regulation vascular endothelial growth factor production
- protein autoubiquitination
- negative regulation of reactive oxygen species metabolic process
- positive regulation of DNA repair
- negative regulation of fatty acid biosynthetic process
- double-strand break repair via homologous recombination
- negative regulation of centriole replication
- DNA damage response, signal transduction resulting in induction of apoptosis
- hypermethylation of CpG island
- response to DNA damage stimulus
- fatty acid biosynthetic process
- regulation of transcription from RNA polymerase II promoter
- cellular response to indole-3-methanol
- random inactivation of X chromosome
- positive regulation of gene expression
- negative regulation of intracellular estrogen receptor signaling pathway
- regulation of DNA damage checkpoint
- reciprocal DNA recombination
- protein K6-linked ubiquitination
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nuclear body
- intracellular non-membrane-bounded organelle
- lateral element
- gamma-tubulin large complex
- chromosome
- plasma membrane
- nucleoplasm
- male germ cell nucleus
- XY body
- nucleus
- nuclear ubiquitin ligase complex
- ubiquitin ligase complex
- cytoplasm
- BRCA1-C complex
- macromolecular complex
- BRCA1-A complex
- BRCA1-B complex
- BRCA1-BARD1 complex
Molecular Function
What the gene product does at the molecular level
- tubulin binding
- identical protein binding
- zinc ion binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription
- damaged DNA binding
- RNA polymerase binding
- DNA binding
- ubiquitin-protein ligase activity
- p53 binding
- ubiquitin protein ligase binding
- protein binding
- RNA binding
- transcription coactivator activity
- enzyme binding