Homo sapiens Gene: BARD1 | |||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||
InnateDB Gene | IDBG-80113.6 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | BARD1 | ||||||||||||||||||||||||
Gene Name | BRCA1 associated RING domain 1 | ||||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Gene | ENSG00000138376 | ||||||||||||||||||||||||
Encoded Proteins |
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
BRCA1 associated RING domain 1
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Protein Structure | |||||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||
Summary |
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. [provided by RefSeq, Jul 2008] 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] |
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Gene Information | |||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||
Genomic Location | Chromosome 2:214725646-214809711 | ||||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||||
Band | q35 | ||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 314 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||||
REACTOME | |||||||||||||||||||||||||
KEGG | |||||||||||||||||||||||||
INOH | |||||||||||||||||||||||||
PID NCI |
BARD1 signaling events
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Cross-References | |||||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||
UniGene | |||||||||||||||||||||||||
RefSeq | NM_000465 NM_001282543 NM_001282545 NM_001282548 NM_001282549 | ||||||||||||||||||||||||
HUGO | |||||||||||||||||||||||||
OMIM | |||||||||||||||||||||||||
CCDS | CCDS2397 CCDS74645 CCDS74646 CCDS74647 CCDS74648 | ||||||||||||||||||||||||
HPRD | |||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | |||||||||||||||||||||||||
GenPept | |||||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||||