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The official name of this gene is “BRCA1 associated RING domain 1.”
BARD1 is the gene's official symbol. The BARD1 gene is also known by other names, listed below.
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]
Probable E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and 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.
NOTE: UniProt (http://www.uniprot.org/uniprot/Q99728) suggests using caution when interpreting this information.
|114480 (http://omim.org/entry/114480)||BREAST CANCER|
|601593 (http://omim.org/entry/601593)||BRCA1-ASSOCIATED RING DOMAIN 1|
Cytogenetic Location: 2q35
Molecular Location on chromosome 2: base pairs 214,725,645 to 214,809,710
The BARD1 gene is located on the long (q) arm of chromosome 2 at position 35.
More precisely, the BARD1 gene is located from base pair 214,725,645 to base pair 214,809,710 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about BARD1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
amino acid ; cancer ; cell ; cell cycle ; cysteine ; DNA ; DNA damage ; domain ; familial ; gene ; homology ; in vitro ; in vivo ; isoforms ; ligase ; Lys ; mediating ; Met ; motif ; mRNA ; ovarian ; protein ; transcript ; tumor ; ubiquitin
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.