BCKDHB [The Human Chemical-Genetic Interaction Map Project]

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======= BCKDHB =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BCKDHB
  * **<color #00a2e8>Official Name</color>**: branched chain keto acid dehydrogenase E1 subunit beta
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=594|594]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P21953|P21953]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BCKDHB&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BCKDHB|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/248611|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).

<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'>
|Transket pyr|
|Transketolase C|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|
|alpha-ketoacid dehydrogenase activity|
|mitochondrial alpha-ketoglutarate dehydrogenase complex|
|branched-chain amino acid metabolic process|
|branched-chain amino acid catabolic process|
|cellular amino acid catabolic process|
|response to nutrient|
|organic acid catabolic process|
|carboxylic acid catabolic process|
|cellular amino acid metabolic process|
|mitochondrial matrix|
|small molecule catabolic process|
|response to nutrient levels|
|response to extracellular stimulus|
|carboxylic acid metabolic process|
|oxidation-reduction process|
|oxoacid metabolic process|
|organic acid metabolic process|
|organonitrogen compound catabolic process|
|mitochondrion|
|small molecule metabolic process|
|organic substance catabolic process|
|cellular catabolic process|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 7170
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.92 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BCKDHB Expression in NALM6 Cells: 4.92'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>