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Details on Person Defective ALG11 does not transfer Man to the N-glycan precursor

Class:Id	FailedReaction:4551297
_displayName	Defective ALG11 does not transfer Man to the N-glycan precursor
_doRelease	TRUE
_timestamp	2024-05-16 13:59:05
authored	[InstanceEdit:4551294] Jassal, B, 2013-09-13
catalystActivity	[CatalystActivity:9631975] alpha-1,2-mannosyltransferase activity of ALG11 mutants [endoplasmic reticulum membrane]
compartment	[Compartment:12045] endoplasmic reticulum membrane [Compartment:70101] cytosol [Compartment:5263266] cytoplasmic side of endoplasmic reticulum membrane
created	[InstanceEdit:4551294] Jassal, B, 2013-09-13
disease	[Disease:3781892] congenital disorder of glycosylation type I
edited	[InstanceEdit:4551294] Jassal, B, 2013-09-13
entityFunctionalStatus	[EntityFunctionalStatus:4570568] loss_of_function of ALG11 mutants [endoplasmic reticulum membrane]
input	[SimpleEntity:449243] (GlcNAc)2 (Man)3 (PP-Dol)1 [cytoplasmic side of endoplasmic reticulum membrane] [SimpleEntity:162860] GDP-Man [cytosol] [SimpleEntity:162860] GDP-Man [cytosol]
isChimeric	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:4570574] Jassal, B, 2013-09-23 [InstanceEdit:5083143] Jassal, B, 2013-11-05 [InstanceEdit:5615515] Jassal, Bijay, 2014-07-24 [InstanceEdit:5627272] Jassal, Bijay, 2014-10-17 [InstanceEdit:5632363] Matthews, Lisa, 2014-10-28 [InstanceEdit:5633234] Jassal, Bijay, 2014-10-31 [InstanceEdit:5635733] Matthews, Lisa, 2014-11-07 [InstanceEdit:5671966] Jassal, Bijay, 2015-02-03 [InstanceEdit:9628509] D'Eustachio, Peter, 2018-11-08 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 [InstanceEdit:9910684] D'Eustachio, Peter, 2024-05-16
name	Defective ALG11 does not transfer Man to the N-glycan precursor
normalReaction	[Reaction:446187] ALG11 transfers the fourth and fifth Man to the N-glycan precursor [Homo sapiens]
releaseDate	2014-12-11
reviewed	[InstanceEdit:5633220] Belaya, Katsiaryna, 2014-10-31
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:5644280] R-HSA-4551297.5
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
(hasEvent)	[Pathway:4551295] Defective ALG11 causes CDG-1p [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778043] Update Tracker - [FailedReaction:4551297] Defective ALG11 does not transfer Man to the N-glycan precursor - v68:[addCatalystActivity]
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