Reactome | Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain

Schema > FailedReaction > Entries

Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain Show undefined attributes

authored	[InstanceEdit:3656262] Jassal, B, 2013-05-31
catalystActivity	[CatalystActivity:9631718] glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity of EXT1 mutants:EXT2 [Golgi membrane]
category	transition
compartment	[Compartment:20699] Golgi membrane [Compartment:17963] Golgi lumen
created	[InstanceEdit:3656262] Jassal, B, 2013-05-31
crossReference	[DatabaseIdentifier:12020884] Mondo:0005508
dbId	3656261
disease	[Disease:3656226] hereditary multiple exostoses
displayName	Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain
edited	[InstanceEdit:3656245] Jassal, B, 2013-05-31
entityFunctionalStatus	[EntityFunctionalStatus:3730977] loss_of_function of EXT1 mutants:EXT2 [Golgi membrane]
eventOf	[Pathway:R-HSA-3656253] Defective EXT1 causes exostoses 1, TRPS2 and CHDS - Homo sapiens
input	[DefinedSet:R-HSA-2076416] Heparan(1)-PGs [Golgi lumen] [SimpleEntity:R-ALL-914003] UDP-GlcNAc [Golgi lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:3730949] Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1) [LiteratureReference:3730929] Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity [LiteratureReference:3730989] Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies [LiteratureReference:3730947] Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome [LiteratureReference:3730919] The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate [LiteratureReference:3730911] The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature [LiteratureReference:5357991] Mutation analysis of hereditary multiple exostoses in the Chinese
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain
normalReaction	[Reaction:R-HSA-2022851] EXT1:EXT2 transfers GlcNAc to the heparan chain
releaseDate	2014-09-30
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-3656261
summation	[Summation:3656273] Exostosin 1 and 2 (EXT1 and 2) are dual-specific glycosyltra...
updateTrackers	[UpdateTracker:9777987] Update Tracker - [FailedReaction:3656261] Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain - v68:[addCatalystActivity] [UpdateTracker:9779864] Update Tracker - [FailedReaction:3656261] Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain - v64:[add_removeInput]

Referrals

(updatedInstance)	[UpdateTracker:9777987] Update Tracker - [FailedReaction:3656261] Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain - v68:[addCatalystActivity] [UpdateTracker:9779864] Update Tracker - [FailedReaction:3656261] Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain - v64:[add_removeInput]
(hasEvent)	[Pathway:R-HSA-3656253] Defective EXT1 causes exostoses 1, TRPS2 and CHDS