Reactome | Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker

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Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker Show undefined attributes

authored	[InstanceEdit:3560797] Jassal, B, 2013-05-21
catalystActivity	[CatalystActivity:9638068] galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity of B3GAT3 R277Q:Mn2+ dimer [Golgi membrane]
category	transition
compartment	[Compartment:20699] Golgi membrane [Compartment:17963] Golgi lumen
created	[InstanceEdit:3560797] Jassal, B, 2013-05-21
crossReference	[DatabaseIdentifier:12020893] Mondo:0007875
dbId	3560802
disease	[Disease:3656227] congenital heart defect [Disease:3656235] Larsen syndrome
displayName	Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker
edited	[InstanceEdit:3560797] Jassal, B, 2013-05-21
entityFunctionalStatus	[EntityFunctionalStatus:3621741] loss_of_function of B3GAT3 R277Q:Mn2+ dimer [Golgi membrane]
eventOf	[Pathway:R-HSA-3560801] Defective B3GAT3 causes JDSSDHD - Homo sapiens
input	[DefinedSet:R-HSA-2064214] Gal-Gal-Xyl-proteins [Golgi lumen] [SimpleEntity:R-ALL-1889970] UDP-GlcA [Golgi lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:1889986] Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues [LiteratureReference:3621752] Faulty initiation of proteoglycan synthesis causes cardiac and joint defects
maxDepth	1
modified	[InstanceEdit:9941603] Stephan, Ralf, 2025-03-10
name	Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker
normalReaction	[Reaction:R-HSA-1889955] B3GAT dimers transfer GlcA to tetrasaccharide linker
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-3560802
summation	[Summation:3621743] B3GAT3 (Ouzzine et al. 2000), along with B3GAT1 and 2, trans...
updateTrackers	[UpdateTracker:9777899] Update Tracker - [FailedReaction:3560802] Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9777899] Update Tracker - [FailedReaction:3560802] Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-3560801] Defective B3GAT3 causes JDSSDHD

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