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Details on Person Defective CHSY1 does not transfer GlcA to chondroitin
| Class:Id | FailedReaction:3595178 |
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| _displayName | Defective CHSY1 does not transfer GlcA to chondroitin |
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| _doRelease | TRUE |
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| _timestamp | 2025-03-10 09:45:58 |
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| authored | [InstanceEdit:3560797] Jassal, B, 2013-05-21 |
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| catalystActivity | [CatalystActivity:9631851] N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity of CHSY1 mutants [Golgi membrane] |
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| compartment | [Compartment:20699] Golgi membrane
[Compartment:17963] Golgi lumen |
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| created | [InstanceEdit:3595173] Jassal, B, 2013-05-21 |
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| disease | [Disease:3656246] brachydactyly |
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| edited | [InstanceEdit:3560797] Jassal, B, 2013-05-21 |
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| entityFunctionalStatus | [EntityFunctionalStatus:3636868] loss_of_function of CHSY1 mutants [Golgi membrane] |
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| input | [DefinedSet:2064172] chondroitin(1)-core proteins [Golgi lumen] [Homo sapiens]
[SimpleEntity:1889970] UDP-GlcA [Golgi lumen] |
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| isChimeric | FALSE |
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| 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 |
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| modified | [InstanceEdit:3621807] Jassal, B, 2013-05-24
[InstanceEdit:3636794] Jassal, B, 2013-05-29
[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:9631717] Wu, G, 2018-12-12
[InstanceEdit:9632032] Jassal, Bijay, 2018-12-13
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
[InstanceEdit:9941603] Stephan, Ralf, 2025-03-10 |
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| name | Defective CHSY1 does not transfer GlcA to chondroitin |
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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:5644925] R-HSA-3595178.4 |
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| summation | [Summation:3621824] Chondroitin sulfate synthase 1 (CHSY1) (Kitagawa et al. 2001... |
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| (hasEvent) | [Pathway:3595177] Defective CHSY1 causes TPBS [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9778595] Update Tracker - [FailedReaction:3595178] Defective CHSY1 does not transfer GlcA to chondroitin - v68:[addCatalystActivity] |
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