Reactome | SERPING1 T189N [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9650469] Shamovsky, Veronica, 2019-06-21
crossReference	[DatabaseIdentifier:12020817] Mondo:0007361
dbId	9650346
disease	[Disease:9650398] C1 inhibitor deficiency
displayName	SERPING1 T189N [endoplasmic reticulum lumen]
endCoordinate	500
hasModifiedResidue	[ReplacedResidue:9830724] L-threonine 189 replaced with L-asparagine
inDisease	true
literatureReference	[LiteratureReference:9650573] Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema
maxDepth	1
memberOf	[CandidateSet:R-HSA-9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen] - Homo sapiens
modified	[InstanceEdit:9830726] Orlic-Milacic, Marija, 2023-03-14
name	SERPING1 T189N C1Inh T189N plasma protease C1 inhibitor T189N C1-In T189N
referenceEntity	[ReferenceGeneProduct:uniprot:P05155] UniProt:P05155 SERPING1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9650346
startCoordinate	23
updateTrackers	[UpdateTracker:9905885] Update Tracker - [EntityWithAccessionedSequence:9650346] SERPING1 T189N [endoplasmic reticulum lumen] - v85:[add_removeHasModifiedResidue]

(updatedInstance)	[UpdateTracker:9905885] Update Tracker - [EntityWithAccessionedSequence:9650346] SERPING1 T189N [endoplasmic reticulum lumen] - v85:[add_removeHasModifiedResidue]
(hasMember)	[CandidateSet:R-HSA-9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen]

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