Cell Senescence Entries for BRCA1
- Cell Types
- Breast cancer
- Cell Lines
- HBL100, HCC1937, MCF-7
- Cancer Cell?
- Yes
- Method
- Mutation
- Type of senescence
- Stress-induced
- Senescence Effect
- Inhibits
- Primary Reference
- Santarosa et al. (2009) Premature senescence is a major response to DNA cross-linking agents in BRCA1-defective cells: implication for tailored treatments of BRCA1 mutation carriers. Mol Cancer Ther 8(4)844-54 (PubMed)
BRCA1 Gene Information
- HGNC symbol
- BRCA1
- Aliases
- BRCC1; FANCS; PPP1R53; RNF53
- Common name
- BRCA1 DNA repair associated
- Entrez Id
- 672
- Description
- 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].
BRCA1 Ontologies
- Gene Ontology
-
Process: GO:10628; positive regulation of gene expression
GO:7049; cell cycle
GO:16567; protein ubiquitination
GO:45892; negative regulation of transcription, DNA-templated
GO:6629; lipid metabolic process
GO:6631; fatty acid metabolic process
GO:6633; fatty acid biosynthetic process
GO:6281; DNA repair
GO:6974; cellular response to DNA damage stimulus
GO:45944; positive regulation of transcription by RNA polymerase II
GO:50896; response to stimulus
And 50 more GO terms Cellular component: GO:5634; nucleus
GO:5737; cytoplasm
GO:32991; protein-containing complex
GO:5654; nucleoplasm
GO:43231; intracellular membrane-bounded organelle
GO:5694; chromosome
GO:16604; nuclear body
GO:31436; BRCA1-BARD1 complex
GO:5886; plasma membrane
GO:70531; BRCA1-A complex
GO:151; ubiquitin ligase complex
And 13 more GO terms Function: GO:8270; zinc ion binding
GO:46872; metal ion binding
GO:16740; transferase activity
GO:3677; DNA binding
GO:31625; ubiquitin protein ligase binding
GO:4842; ubiquitin-protein transferase activity
GO:5515; protein binding
GO:3713; transcription coactivator activity
GO:19899; enzyme binding
GO:15631; tubulin binding
GO:976; transcription cis-regulatory region binding
And 4 more GO terms
Homologs of BRCA1 in Model Organisms
In other databases
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Brca1
- GenAge human genes
- This gene is present as BRCA1
- LongevityMap
- This gene is present as BRCA1
- CellAge gene expression
- This gene is present as BRCA1
External links
- OMIM
- 113705
- Ensembl
- ENSG00000012048
- Entrez Gene
- 672
- UniGene
- 194143
- 1000 Genomes
- 1000 Genomes
- HPRD
- GenAtlas
- BRCA1
- GeneCards
- BRCA1