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Schema
>
FailedReaction
>
Entries
NFKBIA variant is not phosphorylated within IkBA:NF-kappaB
Show undefined attributes
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authored
[InstanceEdit:5545427] Shamovsky, V, 2014年05月21日
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年01月14日
crossReference
[DatabaseIdentifier:11945161] 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年02月09日
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年03月08日
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年03月19日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5621924] D'Eustachio, Peter, 2014年09月06日
[InstanceEdit:5675062] McDonald, Douglas R, 2015年02月15日
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:9778183] Update Tracker - [FailedReaction:5228811] NFKBIA variant is not phosphorylated within IkBA:NF-kappaB - v68:[modifyText]
[UpdateTracker:9774701] Update Tracker - [FailedReaction:5228811] NFKBIA variant is not phosphorylated within IkBA:NF-kappaB - v81:[add_removeCatalystActivity]
Referrals
(updatedInstance)
[UpdateTracker:9778183] Update Tracker - [FailedReaction:5228811] NFKBIA variant is not phosphorylated within IkBA:NF-kappaB - v68:[modifyText]
[UpdateTracker:9774701] Update Tracker - [FailedReaction:5228811] NFKBIA variant is not phosphorylated within IkBA:NF-kappaB - v81:[add_removeCatalystActivity]
(hasEvent)
[Pathway:R-HSA-5603029] IkBA variant leads to EDA-ID
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