DLD dihydrolipoamide dehydrogenase [Homo sapiens (human)] - Gene

Summary

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Official Symbol: DLDprovided by HGNC
Official Full Name: dihydrolipoamide dehydrogenaseprovided by HGNC
Primary source: HGNC:2898
Locus tag: tcag7.39
See related: HPRD:02006; MIM:238331
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: E3; LAD; DLDD; DLDH; GCSL; PHE3
Summary: This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 7q31-q32

Sequence :: Chromosome: 7; NC_000007.13 (107531586..107561643)

See DLD in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

the cryptic activities of DLD promote oxidative damage to neighboring molecules and thus contribute to the clinical severity of DLD mutations
Title: Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.
Structural and thermodynamic basis for weak interactions between dihydrolipoamide dehydrogenase and subunit-binding domain of the branched-chain alpha-ketoacid dehydrogenase complex.
Title: Structural and thermodynamic basis for weak interactions between dihydrolipoamide dehydrogenase and subunit-binding domain of the branched-chain alpha-ketoacid dehydrogenase complex.
This protein has been found differentially expressed in the Wernicke's Area from patients with schizophrenia.
Title: Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
kinetic studies suggest that T148 is not important to E3 catalytic function and R281 plays a role in the catalytic function of E3
Title: The role of amino acids T148 and R281 in human dihydrolipoamide dehydrogenase.
Certain DLD mutations can simultaneously induce the loss of a primary metabolic activity and the gain of a moonlighting proteolytic activity thus contributing to the metabolic derangement associated with DLD deficiency.
Title: Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.
model of the pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and binding of the E1 and E3 components
Title: Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components.
These results suggest that N286 and D320 play a role in the catalytic function of the E3.
Title: The role of N286 and D320 in the reaction mechanism of human dihydrolipoamide dehydrogenase (E3) center domain.
specificity of pairing for human E3BP with E3 from its subcomplex structure to be most likely due to conformational rigidity of the binding fragment of the E3-binding domain of E3BP and its exquisite amino acid match with the E3 target interface
Title: How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex.
A c.1444A>G substitution in E3 exon 13, predictive of a p.R482G (or R447G in the processed gene product) substitution in a highly conserved domain of the protein was found.
Title: A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

Submit: New GeneRIF Correction See all (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Maple syrup urine disease, type 3

MIM: 246900

Genetic Testing Registry

NHGRI GWAS Catalog

Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
pol	gag-pol	Positional proteomics analysis identifies the cleavage of human dihydrolipoamide dehydrogenase (DLD) at amino acid residues 470-471 by the HIV-1 protease	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P09622	P09622	DLD	HPRD	PubMed
P09622	Q02218	OGDH	HPRD	PubMed
P09622	O00330	PDHX	HPRD	PubMed
P09622	P14672	SLC2A4	HPRD	PubMed
BioGRID:108082	BioGRID:106707	AK2	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:106937	ASS1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:107776	ATF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:107572	CKB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:120866	CNDP2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:107997	DBT	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:108081	DLAT	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:115383	DPP3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:108410	ETFB	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:108621	FN1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:114363	GGH	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:115114	KIAA0101	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:110131	LDHA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:122369	MRPL11	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:118817	MRPL13	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:112070	MRPL23	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:119410	MRPL37	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:118800	MRPL42	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:110784	NDUFA9	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:110791	NDUFB5	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:110904	NONO	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:111017	OGDH	BioGRID	PubMed	Reconstituted Complex
BioGRID:108082	BioGRID:111208	PEPD	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:111683	PSMD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:114752	RPL23	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:119602	SIRT7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:112408	SLC2A4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:117344	TNFAIP8	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:120938	UBAP2	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108082	BioGRID:113230	UQCRC1	BioGRID	PubMed	Co-fractionation
BioGRID:108082	BioGRID:113231	UQCRC2	BioGRID	PubMed	Co-fractionation

Pathways from BioSystems

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2-oxobutanoate degradation I, organism-specific biosystem (from BIOCYC)
2-oxobutanoate degradation I, organism-specific biosystem
2-oxobutanoate degradation I
2-oxobutanoate degradation I, conserved biosystem (from BIOCYC)
2-oxobutanoate degradation I, conserved biosystemThe 2-keto acid |FRAME: 2-OXOBUTANOATE| is a common intermediate in the degradation of organic acids. For example, both |FRAME: THR| and |FRAME: MET| are catabolized into |FRAME: 2-OXOBUTANOATE| (se...
2-oxoglutarate decarboxylation to succinyl-CoA, conserved biosystem (from BIOCYC)
2-oxoglutarate decarboxylation to succinyl-CoA, conserved biosystemGeneral Background 2-oxo acid dehydrogenase complexes convert 2-oxo acids to the corresponding acyl-CoA derivatives and produce NADH and |FRAME: CARBON-DIOXIDE| in an irreversible reaction. Five mem...
2-oxoglutarate decarboxylation to succinyl-CoA, organism-specific biosystem (from BIOCYC)
2-oxoglutarate decarboxylation to succinyl-CoA, organism-specific biosystem
2-oxoglutarate decarboxylation to succinyl-CoA
2-oxoisovalerate decarboxylation to isobutanoyl-CoA, organism-specific biosystem (from BIOCYC)
2-oxoisovalerate decarboxylation to isobutanoyl-CoA, organism-specific biosystem2-oxo acid dehydrogenase complexes convert 2-oxo acids to the corresponding acyl-CoA derivatives and produce NADH and : CARBON-DIOXIDE in an irreversible reaction. Five members of this family are kno...
2-oxoisovalerate decarboxylation to isobutanoyl-CoA, conserved biosystem (from BIOCYC)
2-oxoisovalerate decarboxylation to isobutanoyl-CoA, conserved biosystemGeneral Background 2-oxo acid dehydrogenase complexes convert 2-oxo acids to the corresponding acyl-CoA derivatives and produce NADH and |FRAME: CARBON-DIOXIDE| in an irreversible reaction. Five mem...
Branched-chain amino acid catabolism, organism-specific biosystem (from REACTOME)
Branched-chain amino acid catabolism, organism-specific biosystemThe branched-chain amino acids, leucine, isoleucine, and valine, are all essential amino acids (i.e., ones required in the diet). They are major constituents of muscle protein. The breakdown of these...
Citrate cycle (TCA cycle), organism-specific biosystem (from KEGG)
Citrate cycle (TCA cycle), organism-specific biosystemThe citrate cycle (TCA cycle, Krebs cycle) is an important aerobic pathway for the final steps of the oxidation of carbohydrates and fatty acids. The cycle starts with acetyl-CoA, the activated form ...
Citrate cycle (TCA cycle), conserved biosystem (from KEGG)
Citrate cycle (TCA cycle), conserved biosystemThe citrate cycle (TCA cycle, Krebs cycle) is an important aerobic pathway for the final steps of the oxidation of carbohydrates and fatty acids. The cycle starts with acetyl-CoA, the activated form ...
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetate, organism-specific biosystem (from KEGG)
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetate, conserved biosystem (from KEGG)
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetate, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
Citric acid cycle (TCA cycle), organism-specific biosystem (from REACTOME)
Citric acid cycle (TCA cycle), organism-specific biosystemIn the citric acid or tricarboxylic acid (TCA) cycle, the acetyl group of acetyl CoA (derived primarily from oxidative decarboxylation of pyruvate, beta-oxidation of long-chain fatty acids, and catab...
Fatty Acid Beta Oxidation, organism-specific biosystem (from WikiPathways)
Fatty Acid Beta Oxidation, organism-specific biosystemComplete fatty acid beta-oxidation pathway for saturated and unsaturated fatty acids, developed and curated internally by BiGCaT Bioinformatics. This pathway was previously split into three parts p...
Glycine, serine and threonine metabolism, organism-specific biosystem (from KEGG)
Glycine, serine and threonine metabolism, organism-specific biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
Glycine, serine and threonine metabolism, conserved biosystem (from KEGG)
Glycine, serine and threonine metabolism, conserved biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
Glycolysis / Gluconeogenesis, organism-specific biosystem (from KEGG)
Glycolysis / Gluconeogenesis, organism-specific biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
Glycolysis / Gluconeogenesis, conserved biosystem (from KEGG)
Glycolysis / Gluconeogenesis, conserved biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
Glycolysis and Gluconeogenesis, organism-specific biosystem
Glycolysis and Gluconeogenesis
Leucine degradation, leucine => acetoacetate + acetyl-CoA, organism-specific biosystem (from KEGG)
Leucine degradation, leucine => acetoacetate + acetyl-CoA, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Branched-chain amino acid metabolism
Leucine degradation, leucine => acetoacetate + acetyl-CoA, conserved biosystem (from KEGG)
Leucine degradation, leucine => acetoacetate + acetyl-CoA, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Branched-chain amino acid metabolism
Lysine catabolism, organism-specific biosystem (from REACTOME)
Lysine catabolism, organism-specific biosystemIn humans, most catabolism of L-lysine normally proceeds via a sequence of seven reactions which feeds into the pathway for fatty acid catabolism. In the first two reactions, catalyzed by a single en...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
Pyruvate metabolism, organism-specific biosystem (from REACTOME)
Pyruvate metabolism, organism-specific biosystemPyruvate sits at an intersection of key pathways of energy metabolism. It is the end product of glycolysis and the starting point for gluconeogenesis, and can be generated by transamination of alanin...
Pyruvate metabolism, organism-specific biosystem (from KEGG)
Pyruvate metabolism, organism-specific biosystem
Pyruvate metabolism
Pyruvate metabolism, conserved biosystem (from KEGG)
Pyruvate metabolism, conserved biosystem
Pyruvate metabolism
Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystem (from REACTOME)
Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystemPyruvate metabolism and the citric acid (TCA) cycle together link the processes of energy metabolism in a human cell with one another and with key biosynthetic reactions. Pyruvate, derived from the r...
Pyruvate oxidation, pyruvate => acetyl-CoA, organism-specific biosystem (from KEGG)
Pyruvate oxidation, pyruvate => acetyl-CoA, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
Pyruvate oxidation, pyruvate => acetyl-CoA, conserved biosystem (from KEGG)
Pyruvate oxidation, pyruvate => acetyl-CoA, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
Regulation of pyruvate dehydrogenase (PDH) complex, organism-specific biosystem (from REACTOME)
Regulation of pyruvate dehydrogenase (PDH) complex, organism-specific biosystemThe mitochondrial pyruvate dehydrogenase (PDH) complex catalyzes the oxidative decarboxylation of pyruvate, linking glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. PDH inactivati...
TCA Cycle, organism-specific biosystem (from WikiPathways)
TCA Cycle, organism-specific biosystemThe [[wikipedia:citric_acid_cycle|citric acid cycle]], also known as the tricarboxylic acid cycle (TCA cycle) or the Krebs cycle, (or rarely, the Szent-Gyorgyi-Krebs cycle) is a series of enzyme-cata...
TCA cycle, organism-specific biosystem (from BIOCYC)
TCA cycle, organism-specific biosystem
TCA cycle
TCA cycle II (eukaryotic), conserved biosystem (from BIOCYC)
TCA cycle II (eukaryotic), conserved biosystemGeneral Background The TCA pathway is a catabolic pathway of aerobic respiration that generates both energy and reducing power. In addition, it is also the first step in generating precursors for bi...
The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...
Valine, leucine and isoleucine degradation, organism-specific biosystem (from KEGG)
Valine, leucine and isoleucine degradation, organism-specific biosystem
Valine, leucine and isoleucine degradation
Valine, leucine and isoleucine degradation, conserved biosystem (from KEGG)
Valine, leucine and isoleucine degradation, conserved biosystem
Valine, leucine and isoleucine degradation
glycine cleavage, organism-specific biosystem (from BIOCYC)
glycine cleavage, organism-specific biosystemIn eukaryotes the mitochondrial glycine cleavage complex (glycine decarboxylase complex) is a loosely-associated multienzyme complex that catalyzes the oxidative cleavage of glycine to carbon dioxid...
glycine cleavage, conserved biosystem (from BIOCYC)
glycine cleavage, conserved biosystemGeneral Background 2-oxo acid dehydrogenase complexes convert 2-oxo acids to the corresponding acyl-CoA derivatives and produce NADH and |FRAME: CARBON-DIOXIDE| in an irreversible reaction. Five mem...
isoleucine degradation I, organism-specific biosystem (from BIOCYC)
isoleucine degradation I, organism-specific biosystem: ILE is one of the three main branched chain amino acids (BCAAs), along with : LEU and :VAL. The catabolic pathways of the BCAAs can be divided into two sequential series of reactions, referred to a...
isoleucine degradation I, conserved biosystem (from BIOCYC)
isoleucine degradation I, conserved biosystem|FRAME: ILE| is one of the three main branched chain amino acids (BCAAs), along with |FRAME: LEU| and |FRAME:VAL|. The catabolic pathways of the BCAAs can be divided into two sequential series of rea...
pyruvate decarboxylation to acetyl CoA, organism-specific biosystem (from BIOCYC)
pyruvate decarboxylation to acetyl CoA, organism-specific biosystem2-oxo acid dehydrogenase complexes convert 2-oxo acids to the corresponding acyl-CoA derivatives and produce NADH and : CARBON-DIOXIDE in an irreversible reaction. Five members of this family are kno...
pyruvate decarboxylation to acetyl CoA, conserved biosystem (from BIOCYC)
pyruvate decarboxylation to acetyl CoA, conserved biosystemGeneral Background 2-oxo acid dehydrogenase complexes convert 2-oxo acids to the corresponding acyl-CoA derivatives and produce NADH and |FRAME: CARBON-DIOXIDE| in an irreversible reaction. Five mem...
superpathway of methionine degradation, organism-specific biosystem (from BIOCYC)
superpathway of methionine degradation, organism-specific biosystem
superpathway of methionine degradation
superpathway of methionine degradation, conserved biosystem (from BIOCYC)
superpathway of methionine degradation, conserved biosystemPlease note: This is a superpathway that describes the degradation of the amino acid |FRAME: MET| in mammals. For more information about this pathway, please consult the different subpathways that ma...
valine degradation I, organism-specific biosystem (from BIOCYC)
valine degradation I, organism-specific biosystem: VAL is one of the three main branched chain amino acids (BCAAs), along with : LEU and : ILE. The catabolic pathways of the BCAAs can be divided into two sequential series of reactions, referred to ...
valine degradation I, conserved biosystem (from BIOCYC)
valine degradation I, conserved biosystem|FRAME: VAL| is one of the three main branched chain amino acids (BCAAs), along with |FRAME: LEU| and |FRAME: ILE|. The catabolic pathways of the BCAAs can be divided into two sequential series of re...

General gene information

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Markers

RH103475 (e-PCR)
- UniSTS:97800

D7S2771 (e-PCR)
- UniSTS:7702

G54025 (e-PCR)
- UniSTS:109407

RH80342 (e-PCR)
- UniSTS:91000

WIAF-2151 (e-PCR)
- UniSTS:79785

D7S2064E (e-PCR)
- UniSTS:60841

RH130917 (e-PCR)
- UniSTS:214201

D7S1572 (e-PCR)
- UniSTS:15830

IB1079 (e-PCR)
- UniSTS:9180

RH102910 (e-PCR)
- UniSTS:97244

DLD (e-PCR)
- UniSTS:33264

Genotypes

See DLD SNP Geneview Report
See DLD SNP Genotype Report
See DLD SNP Variation Viewer Report

Homology

Homologs of the DLD gene: The DLD gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, and rice.
Map Viewer (Mouse, Rat)

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
dihydrolipoyl dehydrogenase activity	IEA Inferred from Electronic Annotation more info
flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
branched-chain amino acid catabolic process	TAS Traceable Author Statement more info
cell redox homeostasis	IEA Inferred from Electronic Annotation more info
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
gastrulation	IEA Inferred from Electronic Annotation more info
lysine catabolic process	TAS Traceable Author Statement more info
mitochondrial electron transport, NADH to ubiquinone	IEA Inferred from Electronic Annotation more info
proteolysis	IEA Inferred from Electronic Annotation more info
pyruvate metabolic process	TAS Traceable Author Statement more info
regulation of acetyl-CoA biosynthetic process from pyruvate	TAS Traceable Author Statement more info
regulation of membrane potential	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info
sperm capacitation	IEA Inferred from Electronic Annotation more info
tricarboxylic acid cycle	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
acrosomal matrix	IEA Inferred from Electronic Annotation more info
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info
NOT nucleolus	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: dihydrolipoyl dehydrogenase, mitochondrial

Names: dihydrolipoyl dehydrogenase, mitochondrial; diaphorase; lipoamide reductase; lipoyl dehydrogenase; lipoamide dehydrogenase; glycine cleavage system L protein; glycine cleavage system protein L; E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex

NP_000099.2

EC 1.8.1.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008045.1 RefSeqGene

Range

5001..35058

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000108.3 → NP_000099.2 dihydrolipoyl dehydrogenase, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AC005046, BI562331

Consensus CDS

CCDS5749.1

UniProtKB/Swiss-Prot

P09622

Conserved Domains (4) summary

PRK06327
Location:43 – 509
Blast Score: 1478

PRK06327; dihydrolipoamide dehydrogenase; Validated

pfam00070
Location:215 – 288
Blast Score: 175

Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase

pfam02852
Location:389 – 497
Blast Score: 429

Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain

pfam13450
Location:46 – 80
Blast Score: 93

NAD_binding_8; NAD(P)-binding Rossmann-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p10 Primary Assembly

Range

107531586..107561643

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

101894030..101924084

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

106892712..106922768

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018918.1 Alternate CHM1_1.0

Range

110890479..110920536

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AACC02000004.1 (3506063..3536119)	None
genomic	ABBA01057899.1 (115718..145772)	None
genomic	AC005046.3 (108971..139008)	None
genomic	AMYH01017833.1 (7255..37312)	None
genomic	CH236947.1	EAL24389.1
genomic	CH471070.1	EAW83421.1
		EAW83422.1
genomic	L13761.1	AAB01381.1
genomic	M99384.1	AAA35759.1
mRNA	AB209703.1	BAD92940.1
mRNA	AK225289.1	None
mRNA	AK225301.1	None
mRNA	AK294146.1	BAG57472.1
mRNA	AK295080.1	BAG58122.1
mRNA	AK297508.1	BAG59921.1
mRNA	AK300077.1	BAG61881.1
mRNA	AK310220.1	None
mRNA	AK312346.1	BAG35267.1
mRNA	BC018648.2	AAH18648.1
mRNA	BC018696.2	AAH18696.1
mRNA	BI562331.1	None
mRNA	J03490.1	AAA59527.1
mRNA	J03620.1	AAA35764.1
other-genetic	HQ447584.1	ADQ32070.1