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
Protein-Protein network diagram for BRCA1

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

Selected references

External links

EPD
ORF Accession
NM_007294
CDS Accession
NP_009225
OMIM
113705
HPRD
00218
Ensembl
BRCA1
UniProt/Swiss-Prot
BRCA1_HUMAN
GeneCards
BRCA1
Entrez Gene
672
UniGene
194143
GenAtlas
BRCA1
Internet
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