Entity Details

Primary name MDHC_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP40925
EntryNameMDHC_HUMAN
FullNameMalate dehydrogenase, cytoplasmic
TaxID9606
Evidenceevidence at protein level
Length334
SequenceStatuscomplete
DateCreated1995-02-01
DateModified2021-06-02

Ontological Relatives

GenesMDH1

GO terms

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GOName
GO:0004470 malic enzyme activity
GO:0005615 extracellular space
GO:0005813 centrosome
GO:0005829 cytosol
GO:0006094 gluconeogenesis
GO:0006099 tricarboxylic acid cycle
GO:0006107 oxaloacetate metabolic process
GO:0006108 malate metabolic process
GO:0006734 NADH metabolic process
GO:0030060 L-malate dehydrogenase activity
GO:0047860 diiodophenylpyruvate reductase activity
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR001236 Lactate/malate dehydrogenase, N-terminalDomainDomain
IPR001252 Malate dehydrogenase, active siteSiteActive site
IPR001557 L-lactate/malate dehydrogenaseFamilyFamily
IPR010945 Malate dehydrogenase, type 2FamilyFamily
IPR011274 Malate dehydrogenase, NAD-dependent, cytosolicFamilyFamily
IPR015955 Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminalFamilyHomologous superfamily
IPR022383 Lactate/malate dehydrogenase, C-terminalDomainDomain
IPR036291 NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618959 OMIMDevelopmental and epileptic encephalopathy 88 (DEE88)A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE88 is an autosomal recessive severe form characterized by global developmental delay, epilepsy, and progressive microcephaly. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule
DB03461 Nicotinamide adenine dinucleotide phosphateDrugbanksmall molecule
DB11638 ArtenimolDrugbanksmall molecule