BETA
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BRCA1 gene Interaction Network
BRCA1 gene Pathways
| 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] |
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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] |
