Reactome | Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen

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Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen Show undefined attributes

authored	[InstanceEdit:5653590] Jassal, Bijay, 2014-12-01
catalystActivity	[CatalystActivity:9631795] GDP-fucose transmembrane transporter activity of SLC35C1 mutants [Golgi membrane]
category	transition
compartment	[Compartment:20699] Golgi membrane [Compartment:70101] cytosol
created	[InstanceEdit:5653590] Jassal, Bijay, 2014-12-01
crossReference	[DatabaseIdentifier:12020881] Mondo:0005501
dbId	5653596
disease	[Disease:3656242] congenital disorder of glycosylation type II
displayName	Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen
edited	[InstanceEdit:5653590] Jassal, Bijay, 2014-12-01
entityFunctionalStatus	[EntityFunctionalStatus:5653619] loss_of_function of SLC35C1 mutants [Golgi membrane]
eventOf	[Pathway:R-HSA-5619078] Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) - Homo sapiens
input	[SimpleEntity:R-ALL-742368] GDP-Fuc [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5653592] Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect [LiteratureReference:742378] Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen
normalReaction	[Reaction:R-HSA-742345] SLC35C1 transports GDP-Fuc from cytosol to Golgi lumen
releaseDate	2015-09-22
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5653596
summation	[Summation:5653591] The human gene SLC35C1 encodes a GDP-fucose transporter that...
updateTrackers	[UpdateTracker:9778685] Update Tracker - [FailedReaction:5653596] Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen - v68:[addCatalystActivity] [UpdateTracker:9842236] Update Tracker - [FailedReaction:5653596] Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen - v86:[modifyText]

Referrals

(updatedInstance)	[UpdateTracker:9778685] Update Tracker - [FailedReaction:5653596] Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen - v68:[addCatalystActivity] [UpdateTracker:9842236] Update Tracker - [FailedReaction:5653596] Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen - v86:[modifyText]
(hasEvent)	[Pathway:R-HSA-5619078] Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)

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