Entity Details

Primary name DHSO_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ00796
EntryNameDHSO_HUMAN
FullNameSorbitol dehydrogenase
TaxID9606
Evidenceevidence at protein level
Length357
SequenceStatuscomplete
DateCreated1993-04-01
DateModified2021-06-02

Ontological Relatives

GenesSORD

GO terms

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GOName
GO:0000721 (R,R)-butanediol dehydrogenase activity
GO:0003939 L-iditol 2-dehydrogenase activity
GO:0005615 extracellular space
GO:0005829 cytosol
GO:0006006 glucose metabolic process
GO:0006062 sorbitol catabolic process
GO:0006970 response to osmotic stress
GO:0008270 zinc ion binding
GO:0009725 response to hormone
GO:0016020 membrane
GO:0019640 glucuronate catabolic process to xylulose 5-phosphate
GO:0030246 carbohydrate binding
GO:0030317 flagellated sperm motility
GO:0031514 motile cilium
GO:0031667 response to nutrient levels
GO:0031966 mitochondrial membrane
GO:0042493 response to drug
GO:0042802 identical protein binding
GO:0046370 fructose biosynthetic process
GO:0046526 D-xylulose reductase activity
GO:0046686 response to cadmium ion
GO:0046688 response to copper ion
GO:0050255 ribitol 2-dehydrogenase activity
GO:0051160 L-xylitol catabolic process
GO:0051164 L-xylitol metabolic process
GO:0051287 NAD binding
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Cell projection
Mitochondrion membrane

Domains

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DomainNameCategoryType
IPR002328 Alcohol dehydrogenase, zinc-type, conserved siteSiteConserved site
IPR011032 GroES-like superfamilyFamilyHomologous superfamily
IPR013149 Alcohol dehydrogenase, C-terminalDomainDomain
IPR013154 Alcohol dehydrogenase, N-terminalDomainDomain
IPR020843 Polyketide synthase, enoylreductase domainDomainDomain
IPR036291 NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618912 OMIMSorbitol dehydrogenase deficiency with peripheral neuropathy (SORDD)An autosomal recessive disorder characterized by motor axonal neuropathy, slowly progressive distal muscle weakness mainly affecting the lower limbs, difficulty walking, and increased serum sorbitol. Additional variable features are distal sensory impairment, upper limb tremor, scoliosis, and mild hearing loss. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule
DB04478 Cp-166572, 2-Hydroxymethyl-4-(4-N,N-Dimethylaminosulfonyl-1-Piperazino)-PyrimidineDrugbanksmall molecule

Interactions

5 interactions