GenAge entry for BRCA1 (Homo sapiens)

Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism

Gene name (HAGRID: 61)

HGNC symbol: BRCA1
Aliases: RNF53; BRCC1; PPP1R53; FANCS
Common name: breast cancer 1, early onset

Potential relevance to the human ageing process

Main reason for selection: Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism
Description: BRCA1 is crucial in cellular responses to DNA damage and may also be a transcriptional regulator. It interacts with WRN [1825]. Mutations in BRCA1 result in embryonic lethality in mice and humans. Mice hypomorphic for BRCA1 and heterozygous for TP53 have slower growth rates and display signs of premature ageing starting at about 8 months of age [37]. Loss or haploid loss of CHEK2 also enables mice lacking BRCA1 to avoid embryonic lethality and display signs of premature ageing at about 18 months of age and develop multiple tumours later in life [1838]. In humans, some evidence suggests differences in BRCA1 genotype frequencies between centenarians and controls [416]. BRCA1's role in cancer in humans is undisputed [396], and it is possible it also plays a role in ageing.

Cytogenetic information

Cytogenetic band: 17q21
Location: 43,044,295 bp to 43,125,483 bp
Orientation: Minus strand

Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology

Process:

GO:0000724; double-strand break repair via homologous recombination
GO:0000729; DNA double-strand break processing
GO:0000731; DNA synthesis involved in DNA repair
GO:0000732; strand displacement
GO:0006260; DNA replication
GO:0006301; postreplication repair
GO:0006302; double-strand break repair
GO:0006303; double-strand break repair via nonhomologous end joining
GO:0006349; regulation of gene expression by genetic imprinting
GO:0006351; transcription, DNA-templated
GO:0006357; regulation of transcription from RNA polymerase II promoter
GO:0006359; regulation of transcription from RNA polymerase III promoter
GO:0006633; fatty acid biosynthetic process
GO:0006915; apoptotic process
GO:0006974; cellular response to DNA damage stimulus
GO:0006978; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:0007059; chromosome segregation
GO:0007098; centrosome cycle
GO:0008630; intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009048; dosage compensation by inactivation of X chromosome
GO:0010212; response to ionizing radiation
GO:0010575; positive regulation of vascular endothelial growth factor production
GO:0010628; positive regulation of gene expression
GO:0016567; protein ubiquitination
GO:0016925; protein sumoylation
GO:0030521; androgen receptor signaling pathway
GO:0031052; chromosome breakage
GO:0031398; positive regulation of protein ubiquitination
GO:0031572; G2 DNA damage checkpoint
GO:0033147; negative regulation of intracellular estrogen receptor signaling pathway
GO:0035066; positive regulation of histone acetylation
GO:0035067; negative regulation of histone acetylation
GO:0042127; regulation of cell proliferation
GO:0042981; regulation of apoptotic process
GO:0043009; chordate embryonic development
GO:0043627; response to estrogen
GO:0044030; regulation of DNA methylation
GO:0045717; negative regulation of fatty acid biosynthetic process
GO:0045739; positive regulation of DNA repair
GO:0045766; positive regulation of angiogenesis
GO:0045892; negative regulation of transcription, DNA-templated
GO:0045893; positive regulation of transcription, DNA-templated
GO:0045944; positive regulation of transcription from RNA polymerase II promoter
GO:0046600; negative regulation of centriole replication
GO:0051571; positive regulation of histone H3-K4 methylation
GO:0051572; negative regulation of histone H3-K4 methylation
GO:0051573; negative regulation of histone H3-K9 methylation
GO:0051574; positive regulation of histone H3-K9 methylation
GO:0051865; protein autoubiquitination
GO:0070512; positive regulation of histone H4-K20 methylation
GO:0071158; positive regulation of cell cycle arrest
GO:0071356; cellular response to tumor necrosis factor
GO:0071681; cellular response to indole-3-methanol
GO:0085020; protein K6-linked ubiquitination
GO:1901796; regulation of signal transduction by p53 class mediator
GO:1902042; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
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

Cellular component:

GO:0000151; ubiquitin ligase complex
GO:0000800; lateral element
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005694; chromosome
GO:0005737; cytoplasm
GO:0005886; plasma membrane
GO:0008274; gamma-tubulin ring complex
GO:0030529; intracellular ribonucleoprotein complex
GO:0031436; BRCA1-BARD1 complex
GO:0043234; protein complex
GO:0070531; BRCA1-A complex

Function:

GO:0003677; DNA binding
GO:0003684; damaged DNA binding
GO:0003713; transcription coactivator activity
GO:0003723; RNA binding
GO:0004842; ubiquitin-protein transferase activity
GO:0005515; protein binding
GO:0008270; zinc ion binding
GO:0015631; tubulin binding
GO:0019899; enzyme binding
GO:0031625; ubiquitin protein ligase binding
GO:0044212; transcription regulatory region DNA binding
GO:0050681; androgen receptor binding

Hide GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge: TP53, ATM, STAT5A, AKT1, MYC, PEX5, PARP1, BRCA1, CREBBP, HIF1A, RPA1, BLM, BCL2, HSP90AA1, ABL1, BRCA2, TOP2A, RAD51, UBE2I, ERCC6, EP300, TERF1, PRKDC, AR, XRCC5, PCNA, TERF2, XRCC6, HSPA8, RB1, FOXO3, HDAC1, HSPD1, YWHAZ, SP1, JUN, MAPK3, CCNA2, PIK3R1, TFAP2A, CREB1, JAK2, CDK1, E2F1, HDAC2, RELA, VCP, JUND, NBN, SUMO1, H2AFX, CEBPB, ESR1, MTOR, CTNNB1, CDKN2A, PPP1CA, TP63, ATR, MLH1, CHEK2, TP53BP1, TP73, NFE2L2, CDK7, RICTOR
STRING interaction network

Retrieve sequences for BRCA1

ORF: ORF
CDS: CDS

Homologs in model organisms

Mus musculus: Brca1
Rattus norvegicus: Brca1

In other databases

GenAge model organism genes

A homolog of this gene for Mus musculus is present as Brca1

LongevityMap

This gene is present as BRCA1

CellAge

This gene is present as BRCA1

CellAge gene expression

This gene is present as BRCA1