Protein Name BRCA1 DNA repair associated
Organism Homo sapiens
Gene ID 672
Gene Symbol


UniProt P38398 (BRCA1_HUMAN), A0A024R1V0 (A0A024R1V0_HUMAN)
Relationships Total Number of functionally related compound(s) : 696
Total Number of Articles : 2099

BRCA1 DNA repair associated

Gene Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. 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 2020]

  • breast cancer type 1 susceptibility protein
  • BRCA1/BRCA2-containing complex, subunit 1
  • Fanconi anemia, complementation group S
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