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Details on Person Defective ALG1 does not transfer the first Man to the N-glycan precursor

Class:Id	FailedReaction:4549382
_displayName	Defective ALG1 does not transfer the first Man to the N-glycan precursor
_doRelease	TRUE
_timestamp	2024-05-16 13:59:04
authored	[InstanceEdit:4549381] Jassal, B, 2013-09-12
catalystActivity	[CatalystActivity:9631741] chitobiosyldiphosphodolichol beta-mannosyltransferase activity of ALG1 mutants [endoplasmic reticulum membrane]
compartment	[Compartment:70101] cytosol [Compartment:12045] endoplasmic reticulum membrane [Compartment:5263266] cytoplasmic side of endoplasmic reticulum membrane
created	[InstanceEdit:4549381] Jassal, B, 2013-09-12
disease	[Disease:3781892] congenital disorder of glycosylation type I
edited	[InstanceEdit:4549381] Jassal, B, 2013-09-12
entityFunctionalStatus	[EntityFunctionalStatus:4549319] loss_of_function of ALG1 mutants [endoplasmic reticulum membrane]
input	[SimpleEntity:449293] N,N'-DCDOLDP [cytoplasmic side of endoplasmic reticulum membrane] [SimpleEntity:162860] GDP-Man [cytosol]
isChimeric	FALSE
literatureReference	[LiteratureReference:449240] Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I [LiteratureReference:449268] Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik [LiteratureReference:4549308] Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations [LiteratureReference:449224] Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik
modified	[InstanceEdit:5083143] Jassal, B, 2013-11-05 [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:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 [InstanceEdit:9910684] D'Eustachio, Peter, 2024-05-16
name	Defective ALG1 does not transfer the first Man to the N-glycan precursor
normalReaction	[Reaction:446218] Addition of the first mannose to the N-glycan precursor by ALG1 [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:6781747] R-HSA-4549382.4
summation	[Summation:4549370] Chitobiosyldiphosphodolichol beta-mannosyltransferase (ALG1)...
systematicName	ALG1 mutants do not transfer Man to N,N'-DCDOLDP
(hasEvent)	[Pathway:4549380] Defective ALG1 causes CDG-1k [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9777943] Update Tracker - [FailedReaction:4549382] Defective ALG1 does not transfer the first Man to the N-glycan precursor - v68:[addCatalystActivity]
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