Reactome | Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP

Schema > FailedReaction > Entries

Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP Show undefined attributes

authored	[InstanceEdit:5651956] Jassal, Bijay, 2014-11-26
catalystActivity	[CatalystActivity:9631955] CMP-N-acetylneuraminate transmembrane transporter activity of SLC35A1 V93Cfs*17 [Golgi membrane]
category	transition
compartment	[Compartment:17963] Golgi lumen [Compartment:20699] Golgi membrane [Compartment:70101] cytosol
created	[InstanceEdit:5651956] Jassal, Bijay, 2014-11-26
crossReference	[DatabaseIdentifier:12020881] Mondo:0005501
dbId	5651942
disease	[Disease:3656242] congenital disorder of glycosylation type II
displayName	Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP
edited	[InstanceEdit:5651956] Jassal, Bijay, 2014-11-26
entityFunctionalStatus	[EntityFunctionalStatus:5651974] loss_of_function of SLC35A1 V93Cfs*17 [Golgi membrane]
eventOf	[Pathway:R-HSA-5663020] Defective SLC35A1 in sialic acid metabolism causes congenital disorder of glycosylation 2F (CDG2F) - Homo sapiens
input	[SimpleEntity:R-ALL-727810] CMP [Golgi lumen] [SimpleEntity:R-ALL-4085435] CMP-Neu5Ac [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:735687] Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP
normalReaction	[Reaction:R-HSA-727807] SLC35A1 exchanges CMP-Neu5Ac for CMP
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-5651942
summation	[Summation:5651968] The human gene SLC35A1 encodes the CMP-sialic acid transport...
updateTrackers	[UpdateTracker:9778198] Update Tracker - [FailedReaction:5651942] Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778198] Update Tracker - [FailedReaction:5651942] Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5663020] Defective SLC35A1 in sialic acid metabolism causes congenital disorder of glycosylation 2F (CDG2F) [Pathway:R-HSA-5619037] Defective transport by SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)

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