Reactome | Defective SLC35A3 does not exchange UDP-GlcNAc for UMP

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Defective SLC35A3 does not exchange UDP-GlcNAc for UMP Show undefined attributes

authored	[InstanceEdit:5653590] Jassal, Bijay, 2014-12-01
catalystActivity	[CatalystActivity:9631821] UDP-N-acetylglucosamine transmembrane transporter activity of SLC35A3 mutants [Golgi membrane]
category	transition
compartment	[Compartment:17963] Golgi lumen [Compartment:20699] Golgi membrane [Compartment:70101] cytosol
created	[InstanceEdit:5653590] Jassal, Bijay, 2014-12-01
crossReference	[DatabaseIdentifier:12021018] Mondo:0019942
dbId	5653622
disease	[Disease:5653601] distal arthrogryposis [Disease:5653597] epilepsy syndrome [Disease:3656232] developmental disorder of mental health
displayName	Defective SLC35A3 does not exchange UDP-GlcNAc for UMP
edited	[InstanceEdit:5653590] Jassal, Bijay, 2014-12-01
entityFunctionalStatus	[EntityFunctionalStatus:5653605] loss_of_function of SLC35A3 mutants [Golgi membrane]
eventOf	[Pathway:R-HSA-5619083] Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) - Homo sapiens
input	[SimpleEntity:R-ALL-162756] UDP-GlcNAc [cytosol] [SimpleEntity:R-ALL-735698] UMP [Golgi lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5653606] Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC35A3 does not exchange UDP-GlcNAc for UMP
normalReaction	[Reaction:R-HSA-741450] SLC35A3 exchanges UDP-GlcNAc for UMP
releaseDate	2015-09-22
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5653622
summation	[Summation:5653589] The human gene SLC35A3 encodes a UDP-GlcNAc transporter. It ...
updateTrackers	[UpdateTracker:9778314] Update Tracker - [FailedReaction:5653622] Defective SLC35A3 does not exchange UDP-GlcNAc for UMP - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778314] Update Tracker - [FailedReaction:5653622] Defective SLC35A3 does not exchange UDP-GlcNAc for UMP - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5619083] Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)

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