ID:DLDH_HUMAN DESCRIPTION: RecName: Full=Dihydrolipoyl dehydrogenase, mitochondrial; EC=1.8.1.4; AltName: Full=Dihydrolipoamide dehydrogenase; AltName: Full=Glycine cleavage system L protein; Flags: Precursor; FUNCTION: Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction. CATALYTIC ACTIVITY: Protein N(6)-(dihydrolipoyl)lysine + NAD(+) = protein N(6)-(lipoyl)lysine + NADH. COFACTOR: Binds 1 FAD per subunit (By similarity). SUBUNIT: Homodimer. Eukaryotic pyruvate dehydrogenase complexes are organized about a core consisting of the oligomeric dihydrolipoamide acetyl-transferase, around which are arranged multiple copies of pyruvate dehydrogenase, dihydrolipoamide dehydrogenase and protein X bound by non-covalent bonds. SUBCELLULAR LOCATION: Mitochondrion matrix. PTM: Tyrosine phosphorylated (By similarity). DISEASE: Note=Defects in DLD are involved in the development of congenital infantile lactic acidosis. DISEASE: Defects in DLD are a cause of maple syrup urine disease (MSUD) [MIM:248600]. MSUD is characterized by mental and physical retardation, feeding problems and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine, resulting from a block in oxidative decarboxylation. MISCELLANEOUS: The active site is a redox-active disulfide bond. SIMILARITY: Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. SEQUENCE CAUTION: Sequence=BAD92940.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DLD";
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 P09622
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004148 dihydrolipoyl dehydrogenase activity GO:0005515 protein binding GO:0009055 electron carrier activity GO:0016491 oxidoreductase activity GO:0016668 oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor GO:0043544 lipoamide binding GO:0050660 flavin adenine dinucleotide binding GO:0051287 NAD binding GO:0034604 pyruvate dehydrogenase (NAD+) activity
Biological Process: GO:0006086 acetyl-CoA biosynthetic process from pyruvate GO:0006103 2-oxoglutarate metabolic process GO:0006120 mitochondrial electron transport, NADH to ubiquinone GO:0006508 proteolysis GO:0007369 gastrulation GO:0007568 aging GO:0009106 lipoate metabolic process GO:0042391 regulation of membrane potential GO:0045454 cell redox homeostasis GO:0048240 sperm capacitation GO:0051068 dihydrolipoamide metabolic process GO:0055114 oxidation-reduction process GO:0061732 mitochondrial acetyl-CoA biosynthetic process from pyruvate
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
