P38398: Breast cancer type 1 susceptibility protein
Breast cancer type 1 susceptibility protein (BRCA1) is a 1863-residue protein from Homo sapiens. UniProt accession: P38398.
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 (PubMed:10500182, PubMed:12887909, PubMed:12890688, PubMed:14976165, PubMed:16818604, PubMed:17525340, PubMed:19261748). It is unclear whether it also mediates the formation of other types of polyubiquitin chains (PubMed:12890688). The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic st
Subcellular location
Nucleus, Chromosome, Cytoplasm, Cytoplasm, Cytoplasm
Disease associations
Breast cancer (BC); Breast-ovarian cancer, familial, 1 (BROVCA1); Ovarian cancer (OC)
Subunit structure
Heterodimer with BARD1 (PubMed:11573085, PubMed:12890688, PubMed:14976165). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the MRE11-RAD50-NBN protein (MRN) complex (PubMed:10783165). This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains (PubMed:10783165). Component o
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