Reactome | Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BIL

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Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BIL Show undefined attributes

authored	[InstanceEdit:5604980] Jassal, Bijay, 2014-07-03
catalystActivity	[CatalystActivity:9631779] glucuronosyltransferase activity of UGT1A4 S376F [endoplasmic reticulum membrane]
category	transition
compartment	[Compartment:12045] endoplasmic reticulum membrane [Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:5604980] Jassal, Bijay, 2014-07-03
crossReference	[DatabaseIdentifier:12020863] Mondo:0009044
dbId	5604954
disease	[Disease:5604972] Crigler-Najjar syndrome
displayName	Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BIL
edited	[InstanceEdit:5604980] Jassal, Bijay, 2014-07-03
entityFunctionalStatus	[EntityFunctionalStatus:5605020] loss_of_function of UGT1A4 S376F [endoplasmic reticulum membrane]
eventOf	[Pathway:R-HSA-5579016] Defective UGT1A4 causes hyperbilirubinemia - Homo sapiens
input	[SimpleEntity:R-ALL-159151] BIL [endoplasmic reticulum lumen] [SimpleEntity:R-ALL-174384] UDP-GlcA [endoplasmic reticulum lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5604952] Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BIL
normalReaction	[Reaction:R-HSA-159194] UGT1A4 transfers GlcA from UDP-GlcA to BIL to form BMG
releaseDate	2014-12-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5604954
summation	[Summation:5605041] Bilirubin (BIL) is a breakdown product of heme, causing deat...
systematicName	UGT1A4 S376F does not transfer GlcA from UDP-GlcA to BIL, BMG
updateTrackers	[UpdateTracker:9779832] Update Tracker - [FailedReaction:5604954] Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BIL - v64:[add_removeInput] [UpdateTracker:9778568] Update Tracker - [FailedReaction:5604954] Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BIL - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9779832] Update Tracker - [FailedReaction:5604954] Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BIL - v64:[add_removeInput] [UpdateTracker:9778568] Update Tracker - [FailedReaction:5604954] Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BIL - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5579016] Defective UGT1A4 causes hyperbilirubinemia

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