Entity Details

Primary name DLDH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP09622
EntryNameDLDH_HUMAN
FullNameDihydrolipoyl dehydrogenase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length509
SequenceStatuscomplete
DateCreated1989-07-01
DateModified2021-06-02

Ontological Relatives

GenesDLD

GO terms

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GOName
GO:0004148 dihydrolipoyl dehydrogenase activity
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006090 pyruvate metabolic process
GO:0006099 tricarboxylic acid cycle
GO:0006103 2-oxoglutarate metabolic process
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0006508 proteolysis
GO:0006546 glycine catabolic process
GO:0006554 lysine catabolic process
GO:0007369 gastrulation
GO:0007568 aging
GO:0009083 branched-chain amino acid catabolic process
GO:0009106 lipoate metabolic process
GO:0031514 motile cilium
GO:0042391 regulation of membrane potential
GO:0043159 acrosomal matrix
GO:0043544 lipoamide binding
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:0051068 dihydrolipoamide metabolic process
GO:0051287 NAD binding
GO:0061732 mitochondrial acetyl-CoA biosynthetic process from pyruvate
GO:0106077 histone succinylation

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasmic vesicle
Mitochondrion matrix
Nucleus

Domains

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DomainNameCategoryType
IPR001100 Pyridine nucleotide-disulphide oxidoreductase, class IFamilyFamily
IPR004099 Pyridine nucleotide-disulphide oxidoreductase, dimerisation domainDomainDomain
IPR006258 Dihydrolipoamide dehydrogenaseFamilyFamily
IPR012999 Pyridine nucleotide-disulphide oxidoreductase, class I, active siteSiteActive site
IPR016156 FAD/NAD-linked reductase, dimerisation domain superfamilyFamilyHomologous superfamily
IPR023753 FAD/NAD(P)-binding domainDomainDomain
IPR036188 FAD/NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
246900 OMIMDihydrolipoamide dehydrogenase deficiency (DLDD)An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00145 GlycineDrugbanksmall molecule
DB00157 NADHDrugbanksmall molecule
DB03147 Flavin adenine dinucleotideDrugbanksmall molecule