|Other Names||Breast cancer type 1 susceptibility protein, 632-, RING finger protein 53, BRCA1, RNF53|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|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 E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. 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 normal cell cycle progression from G2 to mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. 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.|
|Cellular Location||Nucleus. Chromosome Note=Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex Isoform 5: Cytoplasm|
|Tissue Location||Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines|
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This gene encodes a nuclear phosphoprotein that plays arole in maintaining genomic stability, and it also acts as a tumorsuppressor. The encoded protein combines with other tumorsuppressors, DNA damage sensors, and signal transducers to form alarge multi-subunit protein complex known as the BRCA1-associatedgenome surveillance complex (BASC). This gene product associateswith RNA polymerase II, and through the C-terminal domain, alsointeracts with histone deacetylase complexes. This protein thusplays a role in transcription, DNA repair of double-strandedbreaks, and recombination. Mutations in this gene are responsiblefor approximately 40% of inherited breast cancers and more than 80%of inherited breast and ovarian cancers. Alternative splicing playsa role in modulating the subcellular localization and physiologicalfunction of this gene. Many alternatively spliced transcriptvariants, some of which are disease-associated mutations, have beendescribed for this gene, but the full-length natures of only someof these variants has been described. A related pseudogene, whichis also located on chromosome 17, has been identified. [provided byRefSeq].
Matsuoka, S., et al. Science 316(5828):1160-1166(2007)Olsen, J.V., et al. Cell 127(3):635-648(2006)Fabbro, M., et al. J. Biol. Chem. 279(30):31251-31258(2004)Ouchi, M., et al. J. Biol. Chem. 279(19):19643-19648(2004)Orban, T.I., et al. MP, Mol. Pathol. 56(4):191-197(2003)
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