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Details on Person Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BIL
| Class:Id | FailedReaction:5604975 |
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| _displayName | Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BIL |
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| _doRelease | TRUE |
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| _timestamp | 2019-02-25 11:59:35 |
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| authored | [InstanceEdit:5604980] Jassal, Bijay, 2014-07-03 |
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| catalystActivity | [CatalystActivity:9631932] glucuronosyltransferase activity of UGT1A1 mutants [endoplasmic reticulum membrane] |
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| compartment | [Compartment:12045] endoplasmic reticulum membrane
[Compartment:17957] endoplasmic reticulum lumen |
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| created | [InstanceEdit:5604980] Jassal, Bijay, 2014-07-03 |
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| disease | [Disease:5604972] Crigler-Najjar syndrome |
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| edited | [InstanceEdit:5604980] Jassal, Bijay, 2014-07-03 |
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| entityFunctionalStatus | [EntityFunctionalStatus:5604961] loss_of_function of UGT1A1 mutants [endoplasmic reticulum membrane] |
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| input | [SimpleEntity:159151] BIL [endoplasmic reticulum lumen]
[SimpleEntity:174384] UDP-GlcA [endoplasmic reticulum lumen] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:5604956] Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient
[LiteratureReference:5604952] Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I
[LiteratureReference:5604978] Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene
[LiteratureReference:5605037] Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro
[LiteratureReference:5604979] Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome |
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| modified | [InstanceEdit:5605177] Jassal, Bijay, 2014-07-04
[InstanceEdit:5627273] Jassal, Bijay, 2014-10-17
[InstanceEdit:5633254] Matthews, Lisa, 2014-10-31
[InstanceEdit:5634120] Jassal, Bijay, 2014-11-03
[InstanceEdit:5635755] Matthews, Lisa, 2014-11-07
[InstanceEdit:9036101] Jassal, Bijay, 2018-01-30
[InstanceEdit:9036105] Jassal, Bijay, 2018-01-30
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9638043] Jassal, Bijay, 2019-02-25
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BIL |
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| normalReaction |
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| releaseDate | 2014-12-11 |
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| reviewed | [InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:5644446] R-HSA-5604975.4 |
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| summation | [Summation:5605039] Bilirubin (BIL) is a breakdown product of heme, causing deat... |
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| systematicName | UGT1A1 mutants do not transfer GlcA from UDP-GlcA to BIL, BMG |
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| (hasEvent) | [Pathway:5579002] Defective UGT1A1 causes hyperbilirubinemia [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9777901] Update Tracker - [FailedReaction:5604975] Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BIL - v68:[addCatalystActivity]
[_UpdateTracker:9779876] Update Tracker - [FailedReaction:5604975] Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BIL - v64:[add_removeInput]
[_UpdateTracker:9835750] Update Tracker - [FailedReaction:5604975] Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BIL - v85:[modifyText] |
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