LongevityMap variant
Entry Details
- 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.
- Identifier
- BRCA1
- Cytogenetic Location
- 17q21.31
- UCSC Genome Browser
- View 17q21.31 on the UCSC genome browser
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]
- OMIM
- 113705
- Ensembl
- ENSG00000012048
- UniProt/Swiss-Prot
- A0A024R1V0_HUMAN
- Entrez Gene
- 672
- UniGene
- 194143
- HapMap
- View on HapMap