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 6.3.2.19; Ubiquitin conjugating system; Ligase; EC 6.3.2.-

Chromosomal Location of Human Ortholog: 2q35

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

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

Biological Process: cell cycle arrest; DNA double-strand break processing; DNA replication; DNA synthesis during DNA repair; double-strand break repair via nonhomologous end joining; negative regulation of apoptosis; negative regulation of mRNA 3'-end processing; negative regulation of protein export from nucleus; positive regulation of apoptosis; positive regulation of protein catabolic process; protein ubiquitination; regulation of phosphorylation; response to DNA damage stimulus; strand displacement; tissue homeostasis

Disease: Breast Cancer