BARD1 Antibody – Rabbit Polyclonal

This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

BARD1: the BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage. Colocalizes with BRCA1 into discrete subnuclear foci during S phase. Can translocate to the cytoplasm. Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex. Defects in BARD1 gene are found in primary breast, ovarian and uterine cancers.

Protein type: Ubiquitin ligase; EC 6.3.2.-; EC 6.3.2.19; Ubiquitin conjugating system; Ligase

Chromosomal Location of Human Ortholog: 2q35

Cellular Component: nucleoplasm; intracellular membrane-bound organelle; cytoplasm; BRCA1-BARD1 complex; nucleolus; nucleus; ubiquitin ligase complex

Molecular Function: protein binding; protein homodimerization activity; zinc ion binding; RNA binding; protein heterodimerization activity; ubiquitin-protein ligase activity; kinase binding; ligase activity

Biological Process: negative regulation of mRNA 3'-end processing; negative regulation of protein export from nucleus; regulation of phosphorylation; positive regulation of apoptosis; positive regulation of protein catabolic process; tissue homeostasis; protein ubiquitination; cell cycle arrest; DNA repair; response to DNA damage stimulus; negative regulation of apoptosis

Disease: Breast Cancer