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BRCA1breast cancer 1, early onset |
Known also as: IRIS; PSCP; BRCAI; BRCC1; PNCA4; RNF53; BROVCA1;
| NCBI Gene ID: | 672 |
| NCBI Ensembl Id: | ENSG00000012048 |
| MIM Id: (from NCBI OMIM database) | 113705 |
| Species: | Homo sapiens |
| 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] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Wu LC, Wang ZW, Tsan JT, Spillman MA, Phung A, Xu XL, Yang MC, Hwang LY, Bowcock AM, Baer R | Identification of a RING protein that can interact in vivo with the BRCA1 gene product. | Nat Genet Dec. 1, 1996 |
| Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, Wahrer DC, Sgroi DC, Lane WS, Haber DA, Livingston DM | BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. | Cell April 6, 2001 |
| Ganesan S, Silver DP, Greenberg RA, Avni D, Drapkin R, Miron A, Mok SC, Randrianarison V, Brodie S, Salstrom J, Rasmussen TP, Klimke A, Marrese C, Marahrens Y, Deng CX, Feunteun J, Livingston DM | BRCA1 supports XIST RNA concentration on the inactive X chromosome. | Cell Nov. 1, 2002 |
| Lin DY, Fang HI, Ma AH, Huang YS, Pu YS, Jenster G, Kung HJ, Shih HM | Negative modulation of androgen receptor transcriptional activity by Daxx. | Mol Cell Biol Dec. 1, 2004 |
| Lou Z, Minter-Dykhouse K, Chen J | BRCA1 participates in DNA decatenation. | Nat Struct Mol Biol July 1, 2005 |
Last modification of this entry: Oct. 6, 2010.
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