BARD1 [The Human Chemical-Genetic Interaction Map Project]

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======= BARD1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BARD1
  * **<color #00a2e8>Official Name</color>**: BRCA1 associated RING domain 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=580|580]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q99728|Q99728]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BARD1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BARD1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601593|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. {ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:20351172}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Ank|
|Ank 2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|BRCA1-BARD1 complex|
|negative regulation of protein export from nucleus|
|BRCA1-A complex|
|protein K6-linked ubiquitination|
|negative regulation of mRNA 3-end processing|
|negative regulation of nucleocytoplasmic transport|
|maintenance of protein location in nucleus|
|DNA double-strand break processing|
|regulation of mRNA 3-end processing|
|negative regulation of mRNA processing|
|regulation of protein export from nucleus|
|maintenance of protein localization in organelle|
|negative regulation of intracellular protein transport|
|double-strand break repair via nonhomologous end joining|
|negative regulation of intracellular transport|
|non-recombinational repair|
|cytoplasmic ribonucleoprotein granule|
|maintenance of protein location in cell|
|negative regulation of mRNA metabolic process|
|kinase binding|
|maintenance of location in cell|
|ubiquitin ligase complex|
|maintenance of protein location|
|regulation of nucleocytoplasmic transport|
|negative regulation of cellular protein localization|
|regulation of mRNA processing|
|cell cycle arrest|
|protein localization to nucleus|
|maintenance of location|
|double-strand break repair|
|regulation of signal transduction by p53 class mediator|
|negative regulation of protein transport|
|negative regulation of establishment of protein localization|
|tissue homeostasis|
|DNA replication|
|positive regulation of protein catabolic process|
|regulation of intracellular protein transport|
|ubiquitin-protein transferase activity|
|protein deubiquitination|
|protein modification by small protein removal|
|protein polyubiquitination|
|multicellular organismal homeostasis|
|regulation of mRNA metabolic process|
|anatomical structure homeostasis|
|regulation of intracellular transport|
|regulation of protein catabolic process|
|nuclear speck|
|positive regulation of catabolic process|
|negative regulation of transport|
|protein heterodimerization activity|
|DNA repair|
|regulation of cellular protein localization|
|negative regulation of cell cycle|
|positive regulation of apoptotic process|
|positive regulation of programmed cell death|
|protein ubiquitination|
|positive regulation of cell death|
|regulation of protein transport|
|protein localization to organelle|
|regulation of peptide transport|
|DNA metabolic process|
|regulation of establishment of protein localization|
|protein modification by small protein conjugation|
|cellular response to DNA damage stimulus|
|protein homodimerization activity|
|negative regulation of apoptotic process|
|negative regulation of programmed cell death|
|regulation of cellular localization|
|protein modification by small protein conjugation or removal|
|negative regulation of cell death|
|regulation of catabolic process|
|cell cycle process|
|regulation of protein localization|
|regulation of cell cycle|
|proteolysis|
|negative regulation of RNA metabolic process|
|cell cycle|
|RNA binding|
|negative regulation of nucleobase-containing compound metabolic process|
|regulation of apoptotic process|
|regulation of programmed cell death|
|cellular protein localization|
|regulation of phosphorylation|
|cellular macromolecule localization|
|homeostatic process|
|regulation of cell death|
|cellular response to stress|
|positive regulation of protein metabolic process|
|cellular macromolecule biosynthetic process|
|negative regulation of gene expression|
|macromolecule biosynthetic process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of intracellular signal transduction|
|regulation of transport|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp8|Brefeldin A 0.02μM R00 exp8]]|-2.05|
|[[:results:exp27|Pimelic-diphenylamide-106 0.5μM R00 exp27]]|1.78|
|[[:results:exp32|Rifampicin 10μM R00 exp32]]|1.81|
|[[:results:exp37|Wortmannin 0.5μM R00 exp37]]|1.82|
|[[:results:exp114|A-196 10μM R03 exp114]]|1.93|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 113/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|4/28|
|blood|2/28|
|bone|4/26|
|breast|4/33|
|central nervous system|10/56|
|cervix|0/4|
|colorectal|2/17|
|esophagus|0/13|
|fibroblast|1/1|
|gastric|4/16|
|kidney|5/21|
|liver|6/20|
|lung|12/75|
|lymphocyte|2/16|
|ovary|6/26|
|pancreas|2/24|
|peripheral nervous system|6/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|5/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|2/22|
|urinary tract|5/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1646
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.32 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BARD1 Expression in NALM6 Cells: 6.32'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>