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Gene Ontology Classifications
Symbol
Name
ID
Brca1
breast cancer 1
MGI:104537

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Brca1. (This text reflects annotations as of Thursday, July 24, 2014.)
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
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. 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)
  2. 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)
  3. Celeste A et al. (2002) Genomic instability in mice lacking histone H2AX. Science, 296:922-7. (PubMed:11934988)
  4. Ganesan S et al. (2002) BRCA1 supports XIST RNA concentration on the inactive X chromosome. Cell, 111:393-405. (PubMed:12419249)
  5. 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)
  6. 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)
  7. 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)
  8. Shukla V et al. (2010) BRCA1 affects global DNA methylation through regulation of DNMT1. Cell Res, 20:1201-15. (PubMed:20820192)
  9. 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)
  10. 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)
  11. 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)
  12. 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)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/02/2014
MGI 5.19
The Jackson Laboratory