Reactome | Defective CHSY1 does not transfer GlcA to chondroitin

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Defective CHSY1 does not transfer GlcA to chondroitin Show undefined attributes

authored	[InstanceEdit:3560797] Jassal, B, 2013-05-21
catalystActivity	[CatalystActivity:9631851] N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity of CHSY1 mutants [Golgi membrane]
category	transition
compartment	[Compartment:20699] Golgi membrane [Compartment:17963] Golgi lumen
created	[InstanceEdit:3595173] Jassal, B, 2013-05-21
crossReference	[DatabaseIdentifier:12020895] Mondo:0021004
dbId	3595178
disease	[Disease:3656246] brachydactyly
displayName	Defective CHSY1 does not transfer GlcA to chondroitin
edited	[InstanceEdit:3560797] Jassal, B, 2013-05-21
entityFunctionalStatus	[EntityFunctionalStatus:3636868] loss_of_function of CHSY1 mutants [Golgi membrane]
eventOf	[Pathway:R-HSA-3595177] Defective CHSY1 causes TPBS - Homo sapiens
input	[DefinedSet:R-HSA-2064172] chondroitin(1)-core proteins [Golgi lumen] [SimpleEntity:R-ALL-1889970] UDP-GlcA [Golgi lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:1971445] Molecular cloning and expression of a human chondroitin synthase [LiteratureReference:1971474] Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling [LiteratureReference:3621799] A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies
maxDepth	1
modified	[InstanceEdit:9941603] Stephan, Ralf, 2025-03-10
name	Defective CHSY1 does not transfer GlcA to chondroitin
normalReaction	[Reaction:R-HSA-1971491] Chondroitin polymerase complex transfers GlcA to CS 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-3595178
summation	[Summation:3621824] Chondroitin sulfate synthase 1 (CHSY1) (Kitagawa et al. 2001...
updateTrackers	[UpdateTracker:9778595] Update Tracker - [FailedReaction:3595178] Defective CHSY1 does not transfer GlcA to chondroitin - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778595] Update Tracker - [FailedReaction:3595178] Defective CHSY1 does not transfer GlcA to chondroitin - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-3595177] Defective CHSY1 causes TPBS

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