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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Citric acid cycle related proteins Disease related genes Enzymes Human disease related genes Metabolic proteins Plasma proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
q31.1
Chromosome location (bp)
107891162 - 107931730
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) 1,2,3,4,5,6. The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion 7. A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A 8. In monomeric form may have additional moonlighting function as serine protease 9. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
FAD, Flavoprotein, NAD
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Citric acid cycle related proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Congenital disorders of amino acid metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0001669[acrosomal vesicle] GO:0004148[dihydrolipoyl dehydrogenase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005929[cilium] GO:0005947[mitochondrial alpha-ketoglutarate dehydrogenase complex] GO:0005967[mitochondrial pyruvate dehydrogenase complex] GO:0006086[acetyl-CoA biosynthetic process from pyruvate] GO:0006120[mitochondrial electron transport, NADH to ubiquinone] GO:0006508[proteolysis] GO:0007369[gastrulation] GO:0009083[branched-chain amino acid catabolic process] GO:0016491[oxidoreductase activity] GO:0016668[oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor] GO:0031410[cytoplasmic vesicle] GO:0031514[motile cilium] GO:0034604[pyruvate dehydrogenase (NAD+) activity] GO:0042391[regulation of membrane potential] GO:0042995[cell projection] GO:0043159[acrosomal matrix] GO:0045240[dihydrolipoyl dehydrogenase complex] GO:0045252[oxoglutarate dehydrogenase complex] GO:0045254[pyruvate dehydrogenase complex] GO:0045454[cell redox homeostasis] GO:0048240[sperm capacitation] GO:0050660[flavin adenine dinucleotide binding] GO:0106077[histone succinylation] GO:1902493[acetyltransferase complex]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Citric acid cycle related proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Congenital disorders of amino acid metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001669[acrosomal vesicle] GO:0004148[dihydrolipoyl dehydrogenase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005929[cilium] GO:0005947[mitochondrial alpha-ketoglutarate dehydrogenase complex] GO:0005967[mitochondrial pyruvate dehydrogenase complex] GO:0006086[acetyl-CoA biosynthetic process from pyruvate] GO:0009083[branched-chain amino acid catabolic process] GO:0016491[oxidoreductase activity] GO:0016668[oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor] GO:0031410[cytoplasmic vesicle] GO:0031514[motile cilium] GO:0034604[pyruvate dehydrogenase (NAD+) activity] GO:0042995[cell projection] GO:0045252[oxoglutarate dehydrogenase complex] GO:0045254[pyruvate dehydrogenase complex] GO:0045454[cell redox homeostasis] GO:0050660[flavin adenine dinucleotide binding] GO:0106077[histone succinylation]
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Congenital disorders of amino acid metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
