Reactome | Defective ALG9 does not add the seventh mannose to the N-glycan precursor

Schema > FailedReaction > Entries

Defective ALG9 does not add the seventh mannose to the N-glycan precursor Show undefined attributes

authored	[InstanceEdit:4720494] Jassal, B, 2013-10-21
catalystActivity	[CatalystActivity:9631913] alpha-1,2-mannosyltransferase activity of ALG9 mutants [endoplasmic reticulum membrane]
category	transition
compartment	[Compartment:12045] endoplasmic reticulum membrane [Compartment:453088] integral component of lumenal side of endoplasmic reticulum membrane
created	[InstanceEdit:4720494] Jassal, B, 2013-10-21
dbId	4720478
disease	[Disease:3781892] congenital disorder of glycosylation type I
displayName	Defective ALG9 does not add the seventh mannose to the N-glycan precursor
edited	[InstanceEdit:4720494] Jassal, B, 2013-10-21
entityFunctionalStatus	[EntityFunctionalStatus:4720456] loss_of_function of ALG9 mutants [endoplasmic reticulum membrane]
eventOf	[Pathway:R-HSA-4720454] Defective ALG9 causes CDG-1l - Homo sapiens
input	[SimpleEntity:R-ALL-449315] (GlcNAc)2 (Man)6 (PP-Dol)1 [integral component of lumenal side of endoplasmic reticulum membrane] [SimpleEntity:R-ALL-449229] DOLP-Man [integral component of lumenal side of endoplasmic reticulum membrane]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:449292] Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL [LiteratureReference:449280] CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective ALG9 does not add the seventh mannose to the N-glycan precursor
normalReaction	[Reaction:R-HSA-446215] ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)6 (PP-Dol)1
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-4720478
summation	[Summation:4720496] Alpha-1,2-mannosyltransferase ALG9 (ALG9) normally catalyses...
systematicName	ALG9 mutants do not transfer Man to ALG9 substrates

Referrals

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[Pathway:R-HSA-4720454] Defective ALG9 causes CDG-1l

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