======= BCKDHA =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BCKDHA
  * **<color #00a2e8>Official Name</color>**: branched chain keto acid dehydrogenase E1 subunit alpha
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=593|593]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P12694|P12694]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BCKDHA&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BCKDHA|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608348|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. 
  * **<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'>
|E1 dh|
|Transketolase N|
</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|
|carboxy-lyase activity|
|branched-chain amino acid metabolic process|
|branched-chain amino acid catabolic process|
|cellular amino acid catabolic process|
|organic acid catabolic process|
|carboxylic acid catabolic process|
|cellular amino acid metabolic process|
|mitochondrial matrix|
|small molecule catabolic process|
|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='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:exp65|Mubritinib 0.2μM R02 exp65]]|2|
</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>**: 13760
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.84 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BCKDHA Expression in NALM6 Cells: 3.84'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>