Reactome | Defective MPDU1 does not promote transfer of Man to (GlcNAc)2 (Man)8 (PP-Dol)1 by ALG9

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Defective MPDU1 does not promote transfer of Man to (GlcNAc)2 (Man)8 (PP-Dol)1 by ALG9 Show undefined attributes

authored	[InstanceEdit:4686999] Jassal, B, 2013-10-15
category	transition
compartment	[Compartment:12045] endoplasmic reticulum membrane [Compartment:5263265] lumenal side of endoplasmic reticulum membrane
created	[InstanceEdit:4686999] Jassal, B, 2013-10-15
crossReference	[DatabaseIdentifier:12020873] Mondo:0005500
dbId	9036020
disease	[Disease:3781892] congenital disorder of glycosylation type I
displayName	Defective MPDU1 does not promote transfer of Man to (GlcNAc)2 (Man)8 (PP-Dol)1 by ALG9
edited	[InstanceEdit:4686999] Jassal, B, 2013-10-15
entityFunctionalStatus	[EntityFunctionalStatus:4717402] loss_of_function of MPDU1 mutants [endoplasmic reticulum membrane]
eventOf	[Pathway:R-HSA-4687000] Defective MPDU1 causes CDG-1f - Homo sapiens
input	[SimpleEntity:R-ALL-449365] (GlcNAc)2 (Man)8 (PP-Dol)1 [lumenal side of endoplasmic reticulum membrane] [SimpleEntity:R-ALL-449229] DOLP-Man [lumenal side of endoplasmic reticulum membrane]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:4717386] MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If [LiteratureReference:4717421] Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals [LiteratureReference:4717369] A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)
maxDepth	1
modified	[InstanceEdit:9910684] D'Eustachio, Peter, 2024-05-16
name	Defective MPDU1 does not promote transfer of Man to (GlcNAc)2 (Man)8 (PP-Dol)1 by ALG9
normalReaction	[Reaction:R-HSA-446216] ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)8 (PP-Dol)1
regulatedBy	[PositiveRegulation:9631911] Positive regulation by 'MPDU1 mutants [endoplasmic reticulum membrane]'
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-9036020
summation	[Summation:9036023] Mannose-P-dolichol utilisation defect 1 protein (MPDU1) is r...
systematicName	MPDU1 mutants do not transfer Man from DOLPman to ALG substrates
updateTrackers	[UpdateTracker:9777935] Update Tracker - [FailedReaction:9036020] Defective MPDU1 does not promote transfer of Man to (GlcNAc)2 (Man)8 (PP-Dol)1 by ALG9 - v68:[addRegulator]

Referrals

(updatedInstance)	[UpdateTracker:9777935] Update Tracker - [FailedReaction:9036020] Defective MPDU1 does not promote transfer of Man to (GlcNAc)2 (Man)8 (PP-Dol)1 by ALG9 - v68:[addRegulator]
(hasEvent)	[Pathway:R-HSA-4687000] Defective MPDU1 causes CDG-1f

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