The BRCA1 gene and its putative association with human ageing

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)

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].

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
GO:6310; DNA recombination
GO:45893; positive regulation of transcription, DNA-templated
GO:51865; protein autoubiquitination
GO:85020; protein K6-linked ubiquitination
GO:6302; double-strand break repair
GO:7059; chromosome segregation
GO:6357; regulation of transcription by RNA polymerase II
GO:10212; response to ionizing radiation
GO:45739; positive regulation of DNA repair
GO:31398; positive regulation of protein ubiquitination
GO:45766; positive regulation of angiogenesis
GO:7095; mitotic G2 DNA damage checkpoint signaling
GO:43627; response to estrogen
GO:724; double-strand break repair via homologous recombination
GO:1902042; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:45786; negative regulation of cell cycle
GO:8630; intrinsic apoptotic signaling pathway in response to DNA damage
GO:45717; negative regulation of fatty acid biosynthetic process
GO:35066; positive regulation of histone acetylation
GO:46600; negative regulation of centriole replication
GO:10575; positive regulation of vascular endothelial growth factor production
GO:51726; regulation of cell cycle
GO:71356; cellular response to tumor necrosis factor
GO:71681; cellular response to indole-3-methanol
GO:209; protein polyubiquitination
GO:6301; postreplication repair
GO:9048; dosage compensation by inactivation of X chromosome
GO:33147; negative regulation of intracellular estrogen receptor signaling pathway
GO:35067; negative regulation of histone acetylation
GO:43009; chordate embryonic development
GO:51571; positive regulation of histone H3-K4 methylation
GO:51573; negative regulation of histone H3-K9 methylation
GO:70512; positive regulation of histone H4-K20 methylation
GO:71479; cellular response to ionizing radiation
GO:2000378; negative regulation of reactive oxygen species metabolic process
GO:2000617; positive regulation of histone H3-K9 acetylation
GO:2000620; positive regulation of histone H4-K16 acetylation
GO:44818; mitotic G2/M transition checkpoint
GO:6282; regulation of DNA repair
GO:35825; homologous recombination
GO:110025; DNA strand resection involved in replication fork processing
GO:35518; histone H2A monoubiquitination
GO:70537; histone H2A K63-linked deubiquitination
GO:2000001; regulation of DNA damage checkpoint
GO:6349; regulation of gene expression by genetic imprinting
GO:7098; centrosome cycle
GO:44030; regulation of DNA methylation
GO:51572; negative regulation of histone H3-K4 methylation
GO:51574; positive regulation of histone H3-K9 methylation

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
GO:1990904; ribonucleoprotein complex
GO:70533; BRCA1-C complex
GO:152; nuclear ubiquitin ligase complex
GO:800; lateral element
GO:70532; BRCA1-B complex
GO:1990391; DNA repair complex
GO:931; gamma-tubulin large complex
GO:793; condensed chromosome
GO:794; condensed nuclear chromosome
GO:43229; intracellular organelle
GO:16020; membrane
GO:16021; integral component of membrane

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
GO:70063; RNA polymerase binding
GO:3723; RNA binding
GO:3684; damaged DNA binding

Hide GO terms

Mus musculus

Brca1

Rattus norvegicus

Brca1

GenAge model organism genes