Reactome | NFKBIA variant is not phosphorylated within IkBA:NF-kappaB

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NFKBIA variant is not phosphorylated within IkBA:NF-kappaB Show undefined attributes

authored	[InstanceEdit:5545427] Shamovsky, V, 2014-05-21
catalystActivity	[CatalystActivity:9773806] protein serine/threonine kinase activity of CHUK:p-S177,S181-IKBKB:IKBKG [cytosol]
category	transition
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:5228861] Shamovsky, V, 2014-01-14
crossReference	[DatabaseIdentifier:12021025] Mondo:0003778
dbId	5228811
disease	[Disease:5228860] primary immunodeficiency disease
displayName	NFKBIA variant is not phosphorylated within IkBA:NF-kappaB
edited	[InstanceEdit:5673719] Shamovsky, Veronica, 2015-02-09
entityFunctionalStatus	[EntityFunctionalStatus:9630951] loss_of_function of NFKBIA variants:NFkB complex [cytosol]
eventOf	[Pathway:R-HSA-5603029] IkBA variant leads to EDA-ID - Homo sapiens
input	4 × [SimpleEntity:R-ALL-113592] ATP [cytosol] [Complex:R-HSA-5228828] NFKBIA variants:NFkB complex [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5228855] A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency [LiteratureReference:5228858] The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes [LiteratureReference:5228879] A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy [LiteratureReference:5228832] A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency [LiteratureReference:5228775] A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	NFKBIA variant is not phosphorylated within IkBA:NF-kappaB
normalReaction	[Reaction:R-HSA-9773803] Active IKBKB phosphorylates NF-kappa-B inhibitor
precedingEvent	[Reaction:R-HSA-9630921] NFKBIA variant binds NFkB complex - Homo sapiens
releaseDate	2015-03-19
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5621924] D'Eustachio, Peter, 2014-09-06 [InstanceEdit:5675062] McDonald, Douglas R, 2015-02-15
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5228811
summation	[Summation:5228784] Several patients with ectodermal dysplasia with immunodefici...
systematicName	Activated IKK Complex does not phosphorylate IkBA variants:NFkappaB
updateTrackers	[UpdateTracker:9774701] Update Tracker - [FailedReaction:5228811] NFKBIA variant is not phosphorylated within IkBA:NF-kappaB - v81:[add_removeCatalystActivity] [UpdateTracker:9778183] Update Tracker - [FailedReaction:5228811] NFKBIA variant is not phosphorylated within IkBA:NF-kappaB - v68:[modifyText]

Referrals

(updatedInstance)	[UpdateTracker:9774701] Update Tracker - [FailedReaction:5228811] NFKBIA variant is not phosphorylated within IkBA:NF-kappaB - v81:[add_removeCatalystActivity] [UpdateTracker:9778183] Update Tracker - [FailedReaction:5228811] NFKBIA variant is not phosphorylated within IkBA:NF-kappaB - v68:[modifyText]
(hasEvent)	[Pathway:R-HSA-5603029] IkBA variant leads to EDA-ID

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