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Schema
>
FailedReaction
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Entries
Defective ALG1 does not transfer the first Man to the N-glycan precursor
Show undefined attributes
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authored
[InstanceEdit:4549381] Jassal, B, 2013-09-12
catalystActivity
[CatalystActivity:9631741] chitobiosyldiphosphodolichol beta-mannosyltransferase activity of ALG1 mutants [endoplasmic reticulum membrane]
category
transition
compartment
[Compartment:70101] cytosol
[Compartment:12045] endoplasmic reticulum membrane
[Compartment:453087] integral component of cytoplasmic side of endoplasmic reticulum membrane
created
[InstanceEdit:4549381] Jassal, B, 2013-09-12
dbId
4549382
disease
[Disease:3781892] congenital disorder of glycosylation type I
displayName
Defective ALG1 does not transfer the first Man to the N-glycan precursor
edited
[InstanceEdit:4549381] Jassal, B, 2013-09-12
entityFunctionalStatus
[EntityFunctionalStatus:4549319] loss_of_function of ALG1 mutants [endoplasmic reticulum membrane]
eventOf
[Pathway:R-HSA-4549380] Defective ALG1 causes CDG-1k - Homo sapiens
input
[SimpleEntity:R-ALL-162860] GDP-Man [cytosol]
[SimpleEntity:R-ALL-449293] N,N'-DCDOLDP [integral component of cytoplasmic side of endoplasmic reticulum membrane]
isChimeric
false
isInDisease
true
isInferred
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:9830342] Matthews, Lisa, 2023-03-08
name
Defective ALG1 does not transfer the first Man to the N-glycan precursor
normalReaction
[Reaction:R-HSA-446218] Addition of the first mannose to the N-glycan precursor by ALG1
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-4549382
summation
[Summation:4549370] Chitobiosyldiphosphodolichol beta-mannosyltransferase (ALG1)...
systematicName
ALG1 mutants do not transfer Man to N,N'-DCDOLDP
Referrals
(hasEvent)
[Pathway:R-HSA-4549380] Defective ALG1 causes CDG-1k
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