Preferred Label : BRCA1-Associated RING Domain Protein 1;
NCIt synonyms : BRCA1 Associated RING Domain Protein 1; BRCA1 Associated RING Domain 1; BARD-1; BARD1; BRCA1 Associated RING Domain 1 Protein; EC 2.3.2.27; BRCA1-Associated RING Domain 1; BRCA1 Associated RING Domain-1 Protein; EC 6.3.2.-, Formerly; RING-Type E3 Ubiquitin Transferase BARD1;
NCIt definition : BRCA1-associated RING domain protein 1 (777 aa, 87 kDa) is encoded by the human BARD1
gene. This protein plays a role in cell cycle progression, DNA damage repair, ubiquitination
and transcriptional regulation.;
NCIt note : 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);
Origin ID : C20980;
UMLS CUI : C1332437;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_has_associated_anatomy
- gene_product_has_biochemical_function
- gene_product_has_structural_domain_or_motif
- gene_product_is_element_in_pathway
- gene_product_is_physical_part_of
- gene_product_malfunction_associated_with_disease
- gene_product_plays_role_in_biological_process
