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

And 49 more GO terms

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
	And 2 more GO terms

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
	And 2 more GO terms

Show all 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