Reactome | Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue

Schema > FailedReaction > Entries

Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue Show undefined attributes

authored	[InstanceEdit:3656262] Jassal, B, 2013-05-31
catalystActivity	[CatalystActivity:9631862] 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
dbId	9036283
disease	[Disease:3656226] hereditary multiple exostoses
displayName	Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue
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-2076551] GlcA-Gal-Gal-Xyl-HS proteins [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
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue
normalReaction	[Reaction:R-HSA-2022919] EXT1:EXT2 transfers GlcNAc to the terminal GlcA residue
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-9036283
summation	[Summation:3656273] Exostosin 1 and 2 (EXT1 and 2) are dual-specific glycosyltra...

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[Pathway:R-HSA-3656253] Defective EXT1 causes exostoses 1, TRPS2 and CHDS