Reactome | Defective ALG11 does not transfer Man to the N-glycan precursor

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Defective ALG11 does not transfer Man to the N-glycan precursor Show undefined attributes

authored	[InstanceEdit:4551294] Jassal, B, 2013-09-13
catalystActivity	[CatalystActivity:9631975] alpha-1,2-mannosyltransferase activity of ALG11 mutants [endoplasmic reticulum membrane]
category	transition
compartment	[Compartment:12045] endoplasmic reticulum membrane [Compartment:70101] cytosol [Compartment:453087] integral component of cytoplasmic side of endoplasmic reticulum membrane
created	[InstanceEdit:4551294] Jassal, B, 2013-09-13
dbId	4551297
disease	[Disease:3781892] congenital disorder of glycosylation type I
displayName	Defective ALG11 does not transfer Man to the N-glycan precursor
edited	[InstanceEdit:4551294] Jassal, B, 2013-09-13
entityFunctionalStatus	[EntityFunctionalStatus:4570568] loss_of_function of ALG11 mutants [endoplasmic reticulum membrane]
eventOf	[Pathway:R-HSA-4551295] Defective ALG11 causes CDG-1p - Homo sapiens
input	[SimpleEntity:R-ALL-449243] (GlcNAc)2 (Man)3 (PP-Dol)1 [integral component of cytoplasmic side of endoplasmic reticulum membrane] 2 × [SimpleEntity:R-ALL-162860] GDP-Man [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5615516] A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip [LiteratureReference:5615510] Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective ALG11 does not transfer Man to the N-glycan precursor
normalReaction	[Reaction:R-HSA-446187] ALG11 transfers the fourth and fifth Man to the N-glycan precursor
releaseDate	2014-12-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5633220] Belaya, Katsiaryna, 2014-10-31
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-4551297
summation	[Summation:4551298] GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase...
systematicName	ALG11 mutants do not transfer Man to (GlcNAc)2 (Man)3 (PP-Dol)1

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[Pathway:R-HSA-4551295] Defective ALG11 causes CDG-1p

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