BARD1

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]

Description

BRCA1 associated RING domain 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nuclear speckles, Cytoplasmic bodies

Predicted location

Intracellular

Protein family

Cancer-related genes
Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (214725646 - 214809683)

Ensembl ID

ENSG00000138376  (ver. 103.38)

Orthologs

Mouse Bard1: ENSMUSG00000026196

UniProt

Q99728

neXtProt

NX_Q99728

Human splice variants
Mouse splice variants

Protein structure