Form
Liquid
Buffer
0.05M Sodium Phosphate buffer, 0.2% Gelatin
Preservative
0.1% Sodium azide
Storage
Store as concentrated solution. Centrifuge briefly prior to opening vial. Store at 4ºC. DO NOT FREEZE.
Concentration
0.1 mg/ml (Please refer to the vial label for the specific concentration.)
Antigen Species
Human
Immunogen
Recombinant full length protein (Human).
Purification
From hybridoma culture supernatant
Conjugation
Unconjugated
Note
For laboratory use only. Not for any clinical, therapeutic, or diagnostic use in humans or animals. Not for animal or human consumption.
Synonyms
BRCA1 DNA repair associated , BRCAI , BRCC1 , BROVCA1 , FANCS , IRIS , PNCA4 , PPP1R53 , PSCP , RNF53
Cellular Localization
Nucleus , Cytoplasm
Background
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]
Database
Research Area