Reactome | Defective GNE does not phosphorylate ManNAc to ManNAc-6-P

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Defective GNE does not phosphorylate ManNAc to ManNAc-6-P Show undefined attributes

authored	[InstanceEdit:4088407] Jassal, B, 2013-08-13
catalystActivity	[CatalystActivity:9631729] N-acylmannosamine kinase activity of GNE mutants [cytosol]
category	transition
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:4088407] Jassal, B, 2013-08-13
crossReference	[DatabaseIdentifier:12020878] 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, 2013-08-13
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, 2023-03-08
name	Defective GNE does not phosphorylate ManNAc to ManNAc-6-P
normalReaction	[Reaction:R-HSA-4085028] GNE phosphorylates ManNAc to ManNAc-6-P
releaseDate	2015-06-17
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5690642] Spillmann, Dorothe, 2015-04-30
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]

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(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