Rabbit anti-Human BRCA1 Polyclonal Antibody

Uniprot Id

P38398

Target Species

Human

Target Name

BRCA1

Target Full Name

Breast cancer type 1 susceptibility protein

Target Function

E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Required for FANCD2 targeting to sites of DNA damage. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8. Acts as a transcriptional activator.

Target Involvement

Breast cancer (BC); Breast-ovarian cancer, familial, 1 (BROVCA1); Ovarian cancer (OC); Pancreatic cancer 4 (PNCA4)

Target Subcellular Location

Nucleus. Chromosome. Cytoplasm.; [Isoform 3]: Cytoplasm.; [Isoform 5]: Cytoplasm.

Target Tissue Specificity

Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines.

Target Research Area

Epigenetics and Nuclear Signaling

Target Synonyms

BRCA 1; BRCA1; BRCA1 DNA repair associated; BRCA1/BRCA2 containing complex subunit 1; BRCA1/BRCA2-containing complex; subunit 1; BRCA1_HUMAN; BRCAI; BRCC 1; BRCC1; Breast and ovarian cancer susceptibility protein 1; Breast Cancer 1; Breast Cancer 1 Early Onset; Breast cancer type 1 susceptibility protein; BROVCA1; FANCS; IRIS; PNCA4; PPP1R53; Protein phosphatase 1 regulatory subunit 53; PSCP; RING finger protein 53; RNF53

Target Background

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.