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Details on Person Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker
| Class:Id | FailedReaction:3560802 |
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| _displayName | Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker |
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| _doRelease | TRUE |
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| _timestamp | 2025-03-10 09:45:47 |
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| authored | [InstanceEdit:3560797] Jassal, B, 2013-05-21 |
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| catalystActivity | [CatalystActivity:9638068] galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity of B3GAT3 R277Q:Mn2+ dimer [Golgi membrane] |
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| compartment | [Compartment:20699] Golgi membrane
[Compartment:17963] Golgi lumen |
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| created | [InstanceEdit:3560797] Jassal, B, 2013-05-21 |
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| disease | [Disease:3656227] congenital heart defect
[Disease:3656235] Larsen syndrome |
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| edited | [InstanceEdit:3560797] Jassal, B, 2013-05-21 |
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| entityFunctionalStatus | [EntityFunctionalStatus:3621741] loss_of_function of B3GAT3 R277Q:Mn2+ dimer [Golgi membrane] |
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| input | [DefinedSet:2064214] Gal-Gal-Xyl-proteins [Golgi lumen] [Homo sapiens]
[SimpleEntity:1889970] UDP-GlcA [Golgi lumen] |
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| isChimeric | FALSE |
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| 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 |
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| modified | [InstanceEdit:3621807] Jassal, B, 2013-05-24
[InstanceEdit:3656245] Jassal, B, 2013-05-31
[InstanceEdit:4006088] Jassal, B, 2013-07-29
[InstanceEdit:5607062] Jassal, Bijay, 2014-07-10
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:9638065] Jassal, Bijay, 2019-02-25
[InstanceEdit:9638071] Jassal, Bijay, 2019-02-25
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
[InstanceEdit:9941068] Stephan, Ralf, 2025-03-07
[InstanceEdit:9941603] Stephan, Ralf, 2025-03-10 |
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| name | Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker |
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| normalReaction |
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| releaseDate | 2014-09-30 |
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| reviewed | [InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:5622383] R-HSA-3560802.4 |
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| summation | [Summation:3621743] B3GAT3 (Ouzzine et al. 2000), along with B3GAT1 and 2, trans... |
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| (hasEvent) | [Pathway:3560801] Defective B3GAT3 causes JDSSDHD [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9777899] Update Tracker - [FailedReaction:3560802] Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker - v68:[addCatalystActivity] |
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