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Schema
>
FailedReaction
>
Entries
Defective GNE does not phosphorylate ManNAc to ManNAc-6-P
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authored
[InstanceEdit:4088407] Jassal, B, 2013年08月13日
catalystActivity
[CatalystActivity:9631729] N-acylmannosamine kinase activity of GNE mutants [cytosol]
category
transition
compartment
[Compartment:70101] cytosol
created
[InstanceEdit:4088407] Jassal, B, 2013年08月13日
crossReference
[DatabaseIdentifier:11945020] Mondo:0007827
[DatabaseIdentifier:11945021] Mondo:0010028
dbId
4088322
disease
[Disease:4088367] sialuria
[Disease:4088398] inclusion body myositis
displayName
Defective GNE does not phosphorylate ManNAc to ManNAc-6-P
edited
[InstanceEdit:4088407] Jassal, B, 2013年08月13日
entityFunctionalStatus
[EntityFunctionalStatus:4088356] loss_of_function of GNE mutants [cytosol]
eventOf
[Pathway:R-HSA-4085011] Defective GNE causes sialuria, NK and IBM2 - Homo sapiens
input
[SimpleEntity:R-ALL-113592] ATP [cytosol]
[SimpleEntity:R-ALL-4085214] ManNAc [cytosol]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:4085233] Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
[LiteratureReference:4085212] Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme
[LiteratureReference:4085223] The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
[LiteratureReference:4088344] An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene
[LiteratureReference:4088383] Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
[LiteratureReference:4088396] Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene
[LiteratureReference:4088349] Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
[LiteratureReference:4088395] Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023年03月08日
name
Defective GNE does not phosphorylate ManNAc to ManNAc-6-P
normalReaction
[Reaction:R-HSA-4085028] GNE phosphorylates ManNAc to ManNAc-6-P
releaseDate
2015年06月17日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5690642] Spillmann, Dorothe, 2015年04月30日
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-4088322
summation
[Summation:4085199] UDP N acetylglucosamine 2 epimerase, N acetylmannosamine kin...
updateTrackers
[UpdateTracker:9778273] Update Tracker - [FailedReaction:4088322] Defective GNE does not phosphorylate ManNAc to ManNAc-6-P - v68:[addCatalystActivity]
Referrals
(updatedInstance)
[UpdateTracker:9778273] Update Tracker - [FailedReaction:4088322] Defective GNE does not phosphorylate ManNAc to ManNAc-6-P - v68:[addCatalystActivity]
(hasEvent)
[Pathway:R-HSA-4085011] Defective GNE causes sialuria, NK and IBM2
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