Preferred Label : BRCA1 Associated RING Domain Protein 1;
Obsolete resource : true;
NCIt synonyms : BRCA1-Associated RING Domain 1; BARD1 Protein; BRCA1 Associated RING Domain 1;
NCIt definition : Encoded by human BARD1 Gene, nuclear BARD-1 Protein contains a RING zinc finger, three
tandem ANK repeats, and two BRCT domains. BARD-1 heterodimerizes with BRCA1 via its
N-terminal region and interacts with CSTF-50. BARD1/CSTF1 interacts with RNA Polymerase-2,
which may inhibit pre-mRNA cleavage or polyadenylation. BARD-1/RNA Polymerase-2 holoenzyme
may sense DNA damage; inhibition by CSTF1 may prevent erroneous polyadenylation of
such RNAs. Processed during apoptosis, BARD-1 may mediate apoptosis; homodimers are
more susceptible to proteolytic cleavage than BARD1/BRCA1. BARD1/BRCA1 interaction
is disrupted by tumorigenic amino acid substitutions in BRCA1; a stable BARD1/BRCA1
complex may be essential to BRCA1 tumor suppression. BARD-1 defects are found in primary
breast, ovarian and uterine cancers. (from Swiss-Prot Q99728, OMIM 601593, and NCI);
NCIt note : Use 'BRCA1 Associated RING Domain 1 Protein';
Concept status : Retired_Concept;
Origin ID : C21208;
OMIM relation
- Semantic type(s)
