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Schema
>
FailedReaction
>
Entries
Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen
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authored
[InstanceEdit:5653590] Jassal, Bijay, 2014年12月01日
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年12月01日
crossReference
[DatabaseIdentifier:11945024] 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年12月01日
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年03月08日
name
Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen
normalReaction
[Reaction:R-HSA-742345] SLC35C1 transport UDP-Fuc from cytosol to Golgi lumen
releaseDate
2015年09月22日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:6789776] Broer, Stefan, 2015年08月04日
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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