Reactome | IKBKG *420Wext*447 [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:5262932] Shamovsky, V, 2014-02-09
crossReference	[DatabaseIdentifier:12021025] Mondo:0003778
dbId	5262978
disease	[Disease:5228860] primary immunodeficiency disease
displayName	IKBKG 420Wext447 [cytosol]
endCoordinate	446
hasModifiedResidue	[FragmentReplacedModification:5262861] Replacement of residues 420 to 420 by WGRPVQGHCLPRTCPGPCSLRPFLPPA
inDisease	true
literatureReference	[LiteratureReference:5262960] X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
maxDepth	1
memberOf	[DefinedSet:R-HSA-5262931] TLR associated IKBKG variants [cytosol] - Homo sapiens
modified	[InstanceEdit:9827833] Orlic-Milacic, Marija, 2023-02-06
name	IKBKG 420Wext447 NEMO 420Wext447 IKKG X420WextX447 IKK-gamma X420W Inhibitor of nuclear factor kappa-B kinase gamma subunit IKBKG 420Trpext447 IKBKG Ter420TrpextTer447
referenceEntity	[ReferenceGeneProduct:uniprot:Q9Y6K9] UniProt:Q9Y6K9 IKBKG
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5262978
startCoordinate	1
updateTrackers	[UpdateTracker:9904810] Update Tracker - [EntityWithAccessionedSequence:5262978] IKBKG 420Wext447 [cytosol] - v84:[modifyEndCoordinate, modifyName]

(updatedInstance)	[UpdateTracker:9904810] Update Tracker - [EntityWithAccessionedSequence:5262978] IKBKG 420Wext447 [cytosol] - v84:[modifyEndCoordinate, modifyName]
(hasMember)	[DefinedSet:R-HSA-5262931] TLR associated IKBKG variants [cytosol]

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