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Schema
>
FailedReaction
>
Entries
Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease)
Show undefined attributes
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authored
[InstanceEdit:3907318] D'Eustachio, P, 2013-07-19
catalystActivity
[CatalystActivity:9631903] ubiquitin-protein transferase activity of NHLRC1 mutants [cytosol]
category
transition
compartment
[Compartment:70101] cytosol
created
[InstanceEdit:3797222] D'Eustachio, P, 2013-07-05
crossReference
[DatabaseIdentifier:12020930] Mondo:0002412
dbId
3797226
disease
[Disease:3229130] glycogen storage disease
displayName
Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease)
edited
[InstanceEdit:5490365] D'Eustachio, Peter, 2014-05-19
entityFunctionalStatus
[EntityFunctionalStatus:3797214] loss_of_function of NHLRC1 mutants [cytosol]
eventOf
[Pathway:R-HSA-3785653] Myoclonic epilepsy of Lafora - Homo sapiens
input
[Complex:R-HSA-3781000] EPM2A:PPP1R3C:glycogen-GYG1:GYS1-a tetramer [cytosol]
2 ×
[DefinedSet:R-HSA-113595] Ub [cytosol]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:3797223] Mutations in NHLRC1 cause progressive myoclonus epilepsy
[LiteratureReference:3781014] Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin
[LiteratureReference:5333601] Deciphering the role of malin in the lafora progressive myoclonus epilepsy
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease)
normalReaction
[BlackBoxEvent:R-HSA-3781009] NHLRC1 mediated ubiquitination of EPM2A and PPP1RC3 associated with glycogen-GYG1
releaseDate
2014-03-12
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5333091] Pederson, Bart, 2014-02-18
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-3797226
summation
[Summation:3797220] NHLRC1 (malin) mediates the ubiquitination of EPM2A (laforin...
updateTrackers
[UpdateTracker:9777875] Update Tracker - [FailedReaction:3797226] Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease) - v68:[addCatalystActivity]
[UpdateTracker:9778722] Update Tracker - [FailedReaction:3797226] Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease) - v67:[removeInput]
Referrals
(updatedInstance)
[UpdateTracker:9777875] Update Tracker - [FailedReaction:3797226] Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease) - v68:[addCatalystActivity]
[UpdateTracker:9778722] Update Tracker - [FailedReaction:3797226] Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease) - v67:[removeInput]
(hasEvent)
[Pathway:R-HSA-3785653] Myoclonic epilepsy of Lafora
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