BRCA1 (NM_007294) - BRCA1, DNA repair associated

Breast Cancer Type 1 Susceptibility Protein Isoform 1

Mutations Visualisation

Protein summary

This is preferred isoform of BRCA1 protein. View all 5 isoforms
BRCA1: breast cancer type 1 susceptibility protein isoform 1
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].

Strand
-
Chromosome
17
Protein
1863 residues
All mutations
1443
PTM sites
80
CDS
41,197,694 - 41,276,113
Transcription
41,196,311 - 41,277,500
88.14% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 672
Uniprot
Ensembl