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Gene : BRCA1 Homo sapiens

Name  ? BRCA1 DNA repair associated Cytological Location  17q21.31
Brief Description  BRCA1 DNA repair associated
Description  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]
  • synonyms:
  • BRCAI,
  • breast cancer 1, early onset,
  • uc002ict.4,
  • PPP1R53,
  • RNF53,
  • Fanconi anemia, complementation group S,
  • BROVCA1,
  • BRCC1,
  • BRCA1,
  • FANCS,
  • RNF53,
  • protein phosphatase 1, regulatory subunit 53,
  • HGNC:1100,
  • NM_007294,
  • breast cancer 1,
  • OTTHUMG00000157426,
  • BRCC1,
  • PNCA4,
  • FANCS,
  • PPP1R53,
  • U14680,
  • BRCA1/BRCA2-containing complex, subunit 1,
  • IRIS,
  • PSCP
  • identifiers:
  • 672,
  • ENSG00000012048,
  • BRCA1

Genome feature

Region: gene ? Length: 81070  
Location: 17:43044295-43125364 reverse strand Cyto location: 17q21.31


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Disease

4 Diseases

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3756 SN Ps

5 Cross References

20 Data Sets

4 Homologues

3 Located Features

97 Rna Seq Results