GO curators for mouse genes have assigned the following annotations to the gene product of Brca1. (This text reflects annotations as of Wednesday, August 14, 2013.) Summary from NCBI RefSeq
[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]Summary text based on GO annotations supported by experimental evidence in mouse
Researchers have inferred from direct assay, that the gene product of Brca1
participates in the following biological processes:
Arlt MF et al. (2004) BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function. Mol Cell Biol, 24:6701-9. (PubMed:15254237)
Bernard-Gallon DJ et al. (2001) Brca1 and Brca2 protein expression patterns in different tissues of murine origin. Int J Oncol, 18:271-80. (PubMed:11172592)
Ganesan S et al. (2002) BRCA1 supports XIST RNA concentration on the inactive X chromosome. Cell, 111:393-405. (PubMed:12419249)
Kogo H et al. (2012) HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Genes Cells, 17:897-912. (PubMed:23039116)
Kumar R et al. (2010) Functional conservation of Mei4 for meiotic DNA double-strand break formation from yeasts to mice. Genes Dev, 24:1266-80. (PubMed:20551173)
Ludwig T et al. (1997) Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. Genes Dev, 11:1226-41. (PubMed:9171368)
Shukla V et al. (2010) BRCA1 affects global DNA methylation through regulation of DNMT1. Cell Res, 20:1201-15. (PubMed:20820192)
Sotiropoulou PA et al. (2013) BRCA1 deficiency in skin epidermis leads to selective loss of hair follicle stem cells and their progeny. Genes Dev, 27:39-51. (PubMed:23271346)
Wang X et al. (2004) Genetic interactions between Brca1 and Gadd45a in centrosome duplication, genetic stability, and neural tube closure. J Biol Chem, 279:29606-14. (PubMed:15123655)
Wojtasz L et al. (2012) Meiotic DNA double-strand breaks and chromosome asynapsis in mice are monitored by distinct HORMAD2-independent and -dependent mechanisms. Genes Dev, 26:958-73. (PubMed:22549958)
Wong JC et al. (2003) Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. Hum Mol Genet, 12:2063-76. (PubMed:12913077)
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