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Details on Person NFKBIA variant is not phosphorylated within IkBA:NF-kappaB

Class:Id	FailedReaction:5228811
_displayName	NFKBIA variant is not phosphorylated within IkBA:NF-kappaB
_doRelease	TRUE
_timestamp	2022-05-10 05:36:31
authored	[InstanceEdit:5545427] Shamovsky, V, 2014-05-21
catalystActivity	[CatalystActivity:9773806] protein serine/threonine kinase activity of CHUK:p-S177,S181-IKBKB:IKBKG [cytosol]
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:5228861] Shamovsky, V, 2014-01-14
disease	[Disease:5228860] primary immunodeficiency disease
edited	[InstanceEdit:5673719] Shamovsky, Veronica, 2015-02-09
entityFunctionalStatus	[EntityFunctionalStatus:9630951] loss_of_function of NFKBIA variants:NFkB complex [cytosol]
input	[Complex:5228828] NFKBIA variants:NFkB complex [cytosol] [Homo sapiens] [SimpleEntity:113592] ATP [cytosol] [SimpleEntity:113592] ATP [cytosol] [SimpleEntity:113592] ATP [cytosol] [SimpleEntity:113592] ATP [cytosol]
isChimeric	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
modified	[InstanceEdit:5263018] Shamovsky, V, 2014-02-09 [InstanceEdit:5603048] Shamovsky, Veronica, 2014-06-26 [InstanceEdit:5608049] Shamovsky, Veronica, 2014-07-15 [InstanceEdit:5627005] Shamovsky, Veronica, 2014-10-14 [InstanceEdit:5627589] Shamovsky, Veronica, 2014-10-20 [InstanceEdit:5633254] Matthews, Lisa, 2014-10-31 [InstanceEdit:5635723] Shamovsky, Veronica, 2014-11-07 [InstanceEdit:5643753] Shamovsky, Veronica, 2014-11-17 [InstanceEdit:5675065] Shamovsky, Veronica, 2015-02-15 [InstanceEdit:5675793] Shamovsky, Veronica, 2015-02-16 [InstanceEdit:9630952] Shamovsky, Veronica, 2018-12-03 [InstanceEdit:9631167] Shamovsky, Veronica, 2018-12-04 [InstanceEdit:9637983] D'Eustachio, Peter, 2019-02-21 [InstanceEdit:9773714] Shamovsky, Veronica, 2022-05-09 [InstanceEdit:9773735] Shamovsky, Veronica, 2022-05-09 [InstanceEdit:9773808] Shamovsky, Veronica, 2022-05-10 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	NFKBIA variant is not phosphorylated within IkBA:NF-kappaB
normalReaction	[Reaction:9773803] Active IKBKB phosphorylates NF-kappa-B inhibitor [Homo sapiens]
precedingEvent	[Reaction:9630921] NFKBIA variant binds NFkB complex [Homo sapiens]
releaseDate	2015-03-19
reviewed	[InstanceEdit:5621924] D'Eustachio, Peter, 2014-09-06 [InstanceEdit:5675062] McDonald, Douglas R, 2015-02-15
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:5680199] R-HSA-5228811.4
summation	[Summation:5228784] Several patients with ectodermal dysplasia with immunodefici...
systematicName	Activated IKK Complex does not phosphorylate IkBA variants:NFkappaB
(hasEvent)	[Pathway:5603029] IkBA variant leads to EDA-ID [Homo sapiens]
(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]
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