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Ask your administrator if you think this is wrong. ======= DBT ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: DBT * **<color #00a2e8>Official Name</color>**: dihydrolipoamide branched chain transacylase E2 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1629|1629]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P11182|P11182]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DBT&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DBT|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/248610|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. * **<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). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component. <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'> |2-oxoacid dh| |E3 binding| |Biotin lipoyl| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |lipoic acid binding| |dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity| |mitochondrial alpha-ketoglutarate dehydrogenase complex| |acetyltransferase activity| |branched-chain amino acid catabolic process| |branched-chain amino acid metabolic process| |mitochondrial nucleoid| |cellular amino acid catabolic process| |carboxylic acid catabolic process| |organic acid catabolic process| |ubiquitin protein ligase binding| |cellular amino acid metabolic process| |mitochondrial matrix| |small molecule catabolic process| |carboxylic acid metabolic 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:exp5|Alpha-Amanitin 0.5μM R00 exp5]]|-1.77| |[[:results:exp445|∆-9-Tetrahydrocannabinol 30μM R08 exp445]]|1.77| |[[:results:exp450|Artemisinin 50μM R08 exp450]]|1.91| |[[:results:exp82|Torin1 0.08μM R02 exp82]]|1.99| |[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|2.34| </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: 1/739 ^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>**: 10671 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.58 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='DBT Expression in NALM6 Cells: 5.58'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1