LongevityMap Gene

Gene details

HGNC symbol
BRCA1 
Aliases
IRIS; PSCP; BRCAI; BRCC1; FANCS; PNCA4; RNF53; BROVCA1; PPP1R53 
Common name
BRCA1, DNA repair associated 
Description
This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. 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 2009]
Cytogenetic Location
17q21.31
UCSC Genome Browser
View 17q21.31 on the UCSC genome browser
OMIM
113705
Ensembl
ENSG00000012048
UniProt/Swiss-Prot
A0A024R1V0_HUMAN
Entrez Gene
672
UniGene
194143
1000 Genomes
1000 Genomes

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
GenAge human genes
  • This gene is present as BRCA1
CellAge
  • This gene is present as BRCA1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
American (Caucasians) and Italian
Study Design
Polymorphisms were examined in 102 centenarians from the New England area and 84 centenarians from Italy. The control population consisted of 97 individuals from Italy.
Conclusions
The genotype a+a was more frequent in both centenarian groups compared to the control group whereas the genotype a+b was less frequent. The results however were not statistically significant.
Indentifier
BRCA1
Reference