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Details on Person Defective DPAGT1 does not transfer GlcNAc to DOLP

Class:IdFailedReaction:4549334
_displayNameDefective DPAGT1 does not transfer GlcNAc to DOLP
_doReleaseTRUE
_timestamp2024-05-16 13:59:20
authored[InstanceEdit:4549381] Jassal, B, 2013-09-12
catalystActivity[CatalystActivity:9631918] UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity of DPAGT1 mutants [endoplasmic reticulum membrane]
compartment[Compartment:12045] endoplasmic reticulum membrane
[Compartment:70101] cytosol
[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:4549405] loss_of_function of DPAGT1 mutants [endoplasmic reticulum membrane]
input[SimpleEntity:449299] DOLP [cytoplasmic side of endoplasmic reticulum membrane]
[SimpleEntity:162756] UDP-GlcNAc [cytosol]
isChimericFALSE
literatureReference[LiteratureReference:449302] Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij
[LiteratureReference:4549391] Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
[LiteratureReference:4549335] Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates
modified[InstanceEdit:5083143] Jassal, B, 2013-11-05
[InstanceEdit:5627272] Jassal, Bijay, 2014-10-17
[InstanceEdit:5632369] Matthews, Lisa, 2014-10-28
[InstanceEdit:5633234] Jassal, Bijay, 2014-10-31
[InstanceEdit:5635755] 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
nameDefective DPAGT1 does not transfer GlcNAc to DOLP
normalReaction
releaseDate2014-12-11
reviewed[InstanceEdit:5633220] Belaya, Katsiaryna, 2014-10-31
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:5644327] R-HSA-4549334.4
summation[Summation:4549343] In the first committed step of N-glycan precursor (LLO) synt...
systematicNameDPAGT1 mutants do not transfer GlcNAc to DOLP
(hasEvent)[Pathway:4549356] Defective DPAGT1 causes CDG-1j, CMSTA2 [Homo sapiens]
(updatedInstance)[_UpdateTracker:9777861] Update Tracker - [FailedReaction:4549334] Defective DPAGT1 does not transfer GlcNAc to DOLP - v68:[addCatalystActivity]
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