ID:ODB2_HUMAN DESCRIPTION: RecName: Full=Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial; EC=2.3.1.168; AltName: Full=Branched-chain alpha-keto acid dehydrogenase complex component E2; Short=BCKAD-E2; Short=BCKADE2; AltName: Full=Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; AltName: Full=Dihydrolipoamide branched chain transacylase; AltName: Full=Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase; Flags: Precursor; FUNCTION: 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). CATALYTIC ACTIVITY: 2-methylpropanoyl-CoA + enzyme N(6)- (dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-(2- methylpropanoyl)dihydrolipoyl)lysine. COFACTOR: Binds 1 lipoyl cofactor covalently. SUBUNIT: Forms a 24-polypeptide structural core with octahedral symmetry. SUBCELLULAR LOCATION: Mitochondrion matrix. DISEASE: Defects in DBT are the cause of maple syrup urine disease type 2 (MSUD2) [MIM:248600]. MSUD is an autosomal recessive disorder characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine. MISCELLANEOUS: 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. SIMILARITY: Belongs to the 2-oxoacid dehydrogenase family. SIMILARITY: Contains 1 lipoyl-binding domain. SEQUENCE CAUTION: Sequence=AAA35589.1; Type=Erroneous initiation; Sequence=AAA64512.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DBT";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11182
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein P11182 (Reactome details) participates in the following event(s):
R-HSA-5693148 BCKDK phosphorylates BCKDH R-HSA-5693153 PPM1K dephosphorylates p-BCKDH R-HSA-6792572 LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs R-HSA-70713 BCKDH transfers CoA group from CoA-SH to BCAAs R-HSA-70895 Branched-chain amino acid catabolism R-HSA-389661 Glyoxylate metabolism and glycine degradation R-HSA-71291 Metabolism of nitrogenous molecules R-HSA-1430728 Metabolism