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Symbol BRCA1
Name BRCA1, DNA repair associated
Type transcription regulator
Synonyms BRCA1, BRCA1, DNA repair associated, BRCAI, BRCC1, breast cancer 1, early onset, BROVCA1, FANCS, PNCA4, PPP1R53, PSCP, RNF53
Species Human (BRCA1 EG:672), Mouse (Brca1 EG:12189), Rat (Brca1 EG:497672), Cow (BRCA1 EG:353120), Chicken (BRCA1 EG:373983), Dog (BRCA1 EG:403437)
SwissProt ID P38398, P48754, O54952, Q864U1, Q95153
Summary 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]
BRCA1 gene Interaction Network BRCA1 gene Pathways
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Name BRCA1 gene summary
Description Name: BRCA1, DNA repair associated, Symbol: BRCA1, Category: gene, Type: transcription regulator, Synonyms: BRCA1, BRCA1, DNA repair associated, BRCAI, BRCC1, breast cancer 1, early onset, BROVCA1, FANCS, PNCA4, PPP1R53, PSCP, RNF53, Summary: 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]
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