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]

  • Enables transcription cis-regulatory region binding¬†glucose metabolic process
  • Enables DNA binding
  • Enables damaged DNA binding
  • Enables transcription coactivator activity
  • Enables RNA binding
  • Part of ubiquitin ligase complex
  • Part of nuclear ubiquitin ligase complex
  • Condensed chromosome
  • Condensed nuclear chromosome
  • Located in lateral element
  • Involved in protein polyubiquitination
  • Involved in double-strand break repair via homologous recombination
  • DNA repair
  • Involved in postreplication repair
  • Involved in double-strand break repair
  • Breast-Ovarian Cancer, Familial 1
  • Fanconi Anemia, Complementation Group S
  • Pancreatic Cancer
  • Hereditary Breast Ovarian Cancer Syndrome
  • Ovarian Cancer 1
  • Ovarian Disease
  • Palmoplantar Keratoderma, Punctate Type Ii
  • Bilateral Breast Cancer
  • Ovarian Cancer
  • Breast-Ovarian Cancer, Familial 2
  • Fanconi Anemia, Complementation Group A
  • Breast Cancer
  • Pancreatic Cancer
  • Endometrial Cancer
  • Inherited Cancer-Predisposing Syndrome
  • Cutaneous Telangiectasia And Cancer Syndrome, Familial
  • Rhabdomyosarcoma
  • Tumor Predisposition Syndrome
  • Lung Cancer
  • Colorectal Cancer
  • Primary Peritoneal Carcinoma
  • Fallopian Tube Carcinoma

BRCA1 Localizations – Subcellular Localization Database

EmwOwn work. Complex Structure of the BRCA1 RING domain and BARD1 RING domain. Based on PyMOL rendering of PDB 1jm7.

Gene Location