Reactome | GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP

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GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP Show undefined attributes

authored	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
catalystActivity	[CatalystActivity:4085221] UDP-N-acetylglucosamine 2-epimerase activity of GNE hexamer [cytosol]
category	transition
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
crossReference	[DatabaseIdentifier:11880050] Rhea:30684
dbId	4085021
displayName	GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP
edited	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
eventOf	[Pathway:R-HSA-4085001] Sialic acid metabolism - Homo sapiens
followingEvent	[Reaction:R-HSA-4085028] GNE phosphorylates ManNAc to ManNAc-6-P - Homo sapiens
input	[SimpleEntity:R-ALL-29356] H2O [cytosol] [SimpleEntity:R-ALL-162756] UDP-GlcNAc [cytosol]
isChimeric	false
isInDisease	false
isInferred	false
literatureReference	[LiteratureReference:4085196] Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis [LiteratureReference:4085235] UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation [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:4085233] Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation [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)
modified	[InstanceEdit:11879863] Wright, Adam, 2024-03-11
name	GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP GNE hydrolyzes, epimerises UDP-GlcNAc to ManNAc and UDP
orthologousEvent	[Reaction:R-GGA-4085021] GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP - Gallus gallus [Reaction:R-XTR-4085021] GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP - Xenopus tropicalis [Reaction:R-DRE-4085021] GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP - Danio rerio [Reaction:R-SSC-4085021] GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP - Sus scrofa [Reaction:R-BTA-4085021] GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP - Bos taurus [Reaction:R-CFA-4085021] GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP - Canis familiaris [Reaction:R-RNO-4085021] GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP - Rattus norvegicus [Reaction:R-MMU-4085021] GNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDP - Mus musculus
output	[SimpleEntity:R-ALL-4085214] ManNAc [cytosol] [SimpleEntity:R-ALL-110096] UDP [cytosol]
releaseDate	2014-03-12
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5225590] Medrano, Juan F, Wickramasinghe, Saumya, 2014-01-08
schemaClass	Reaction
species	[Species:48887] Homo sapiens
stId	R-HSA-4085021
summation	[Summation:4085197] UDP-N-acetylglucosamine 2-epimerase, N-acetylmannosamine kin...

Referrals

(normalReaction)	[FailedReaction:R-HSA-4088338] Defective GNE does not hydrolyse UDP-GlcNAc
(hasEvent)	[Pathway:R-HSA-4085001] Sialic acid metabolism
(precedingEvent)	[Reaction:R-HSA-4085028] GNE phosphorylates ManNAc to ManNAc-6-P

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