BARD1

Name

BRCA1 associated RING domain 1

Type

protein-coding

Position

214,724,705–214,809,726 (−)

Ensembl

ENSG00000138376

RefSeq RNA

NM_000465.4, NM_001282543.2, NM_001282545.2, NM_001282548.2, NM_001282549.2

RefSeq protein

NP_000456.2, NP_001269472.1, NP_001269474.1, NP_001269477.1, NP_001269478.1

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].

via MyGene.info

Gene · Ensembl

BRCA1 associated RING domain 1

Symbol

BARD1

Biotype

Protein coding

Organism

Homo sapiens

Location

2:214,724,705-214,809,726

Strand

Reverse (−)

Assembly

GRCh38