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Details on Person Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease)

Class:Id	FailedReaction:3797226
_displayName	Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease)
_doRelease	TRUE
_timestamp	2018-11-08 19:29:05
authored	[InstanceEdit:3907318] D'Eustachio, P, 2013-07-19
catalystActivity	[CatalystActivity:9631903] ubiquitin-protein transferase activity of NHLRC1 mutants [cytosol]
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:3797222] D'Eustachio, P, 2013-07-05
disease	[Disease:3229130] glycogen storage disease
edited	[InstanceEdit:5490365] D'Eustachio, Peter, 2014-05-19
entityFunctionalStatus	[EntityFunctionalStatus:3797214] loss_of_function of NHLRC1 mutants [cytosol]
input	[Complex:3781000] EPM2A:PPP1R3C:glycogen-GYG1:GYS1-a tetramer [cytosol] [Homo sapiens] [DefinedSet:113595] Ub [cytosol] [Homo sapiens] [DefinedSet:113595] Ub [cytosol] [Homo sapiens]
isChimeric	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
modified	[InstanceEdit:3797234] D'Eustachio, P, 2013-07-05 [InstanceEdit:3806000] D'Eustachio, P, 2013-07-05 [InstanceEdit:3907319] D'Eustachio, P, 2013-07-19 [InstanceEdit:4006040] D'Eustachio, P, 2013-07-25 [InstanceEdit:5096336] D'Eustachio, P, 2013-11-08 [InstanceEdit:5137981] D'Eustachio, P, 2013-11-14 [InstanceEdit:5146702] D'Eustachio, P, 2013-11-18 [InstanceEdit:5333089] D'Eustachio, Peter, 2014-02-18 [InstanceEdit:5333597] D'Eustachio, Peter, 2014-02-19 [InstanceEdit:5357595] D'Eustachio, Peter, 2014-03-24 [InstanceEdit:5545446] Matthews, Lisa, 2014-05-21 [InstanceEdit:5566473] Matthews, Lisa, 2014-05-23 [InstanceEdit:5577010] Matthews, Lisa, 2014-05-28 [InstanceEdit:9036885] D'Eustachio, Peter, 2018-02-12 [InstanceEdit:9628509] D'Eustachio, Peter, 2018-11-08 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease)
normalReaction	[BlackBoxEvent:3781009] NHLRC1 mediated ubiquitination of EPM2A and PPP1RC3 associated with glycogen-GYG1 [Homo sapiens]
releaseDate	2014-03-12
reviewed	[InstanceEdit:5333091] Pederson, Bart, 2014-02-18
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:5644176] R-HSA-3797226.5
summation	[Summation:3797220] NHLRC1 (malin) mediates the ubiquitination of EPM2A (laforin...
(hasEvent)	[Pathway:3785653] Myoclonic epilepsy of Lafora [Homo sapiens]
(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]
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