Description: Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA. RefSeq Summary (NM_000465): 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]. Transcript (Including UTRs) Position: hg19 chr2:215,593,275-215,674,428 Size: 81,154 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr2:215,593,400-215,674,293 Size: 80,894 Coding Exon Count: 5
breast cancer Stacey, S. N. et al. 2006, The BARD1 Cys557Ser Variant and Breast Cancer Risk in Iceland, PLoS Med 2006 3(7) e217.
[PubMed 16768547]
Our findings suggest that BARD1 Cys557Ser is an ancient variant that confers risk of single and multiple primary breast cancers, and this risk extends to carriers of the BRCA2 999del5 mutation.
breast cancer Huo, X. et al. 2006, Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility, Breast Cancer Res Treat 2006.
[PubMed 17028982]
breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer Karppinen, S. M. et al. 2006, Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 cancer cases, J Med Genet 2006.
[PubMed 16825437]
These results provide further evidence that BARD1 Cys557Ser confers a slightly increased risk of breast cancer in women.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on F6MDI2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.