Reactome | Defective MAN1B1 does not hydrolyse 1,2-linked mannose (c branch)

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Defective MAN1B1 does not hydrolyse 1,2-linked mannose (c branch) Show undefined attributes

authored	[InstanceEdit:4043910] Jassal, B, 2013-07-29
catalystActivity	[CatalystActivity:9631798] mannosyl-oligosaccharide 1,2-alpha-mannosidase activity of MAN1B1 mutants [endoplasmic reticulum quality control compartment]
category	transition
compartment	[Compartment:927893] endoplasmic reticulum quality control compartment
created	[InstanceEdit:4793951] Jassal, B, 2013-10-29
crossReference	[DatabaseIdentifier:12020904] Mondo:0019181
dbId	9036012
disease	[Disease:4788583] non-specific X-linked mental retardation
displayName	Defective MAN1B1 does not hydrolyse 1,2-linked mannose (c branch)
edited	[InstanceEdit:4793951] Jassal, B, 2013-10-29
entityFunctionalStatus	[EntityFunctionalStatus:4960929] loss_of_function of MAN1B1 mutants [endoplasmic reticulum quality control compartment]
eventOf	[Pathway:R-HSA-4793950] Defective MAN1B1 causes MRT15 - Homo sapiens
input	[Complex:R-HSA-912283] (un)folded protein:(GlcNAc)2 (Man)9 [endoplasmic reticulum quality control compartment] [SimpleEntity:R-ALL-6781870] H2O [endoplasmic reticulum quality control compartment]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:4839826] Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan [LiteratureReference:4839778] Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective MAN1B1 does not hydrolyse 1,2-linked mannose (c branch)
normalReaction	[Reaction:R-HSA-901039] MAN1B1 hydrolyses 1,2-linked mannose (c branch)
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-9036012
summation	[Summation:9036014] Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-man...
systematicName	MAN1B1 mutants do not cleave Man from MAN1B1 substrates
updateTrackers	[UpdateTracker:9778051] Update Tracker - [FailedReaction:9036012] Defective MAN1B1 does not hydrolyse 1,2-linked mannose (c branch) - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778051] Update Tracker - [FailedReaction:9036012] Defective MAN1B1 does not hydrolyse 1,2-linked mannose (c branch) - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-4793950] Defective MAN1B1 causes MRT15

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