Entity Details

Primary name UGDH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60701
EntryNameUGDH_HUMAN
FullNameUDP-glucose 6-dehydrogenase
TaxID9606
Evidenceevidence at protein level
Length494
SequenceStatuscomplete
DateCreated1998-12-15
DateModified2021-06-02

Ontological Relatives

GenesUGDH

GO terms

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GOName
GO:0001702 gastrulation with mouth forming second
GO:0003979 UDP-glucose 6-dehydrogenase activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006065 UDP-glucuronate biosynthetic process
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0030206 chondroitin sulfate biosynthetic process
GO:0034214 protein hexamerization
GO:0042802 identical protein binding
GO:0048666 neuron development
GO:0051287 NAD binding
GO:0070062 extracellular exosome

Subcellular Location

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Domains

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DomainNameCategoryType
IPR001732 UDP-glucose/GDP-mannose dehydrogenase, N-terminalDomainDomain
IPR008927 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamilyFamilyHomologous superfamily
IPR014026 UDP-glucose/GDP-mannose dehydrogenase, dimerisationDomainDomain
IPR014027 UDP-glucose/GDP-mannose dehydrogenase, C-terminalDomainDomain
IPR017476 UDP-glucose/GDP-mannose dehydrogenaseFamilyFamily
IPR028356 UDP-glucose 6-dehydrogenase, eukaryotic typeFamilyFamily
IPR036220 UDP-glucose/GDP-mannose dehydrogenase, C-terminal domain superfamilyFamilyHomologous superfamily
IPR036291 NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618792 OMIMDevelopmental and epileptic encephalopathy 84 (DEE84)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. DEE84 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule
DB09130 CopperDrugbanksmall molecule