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Details on Person SERPING1 variant does not bind kallikrein

Class:Id	FailedReaction:9651467
_displayName	SERPING1 variant does not bind kallikrein
_doRelease	TRUE
_timestamp	2026-01-20 07:29:05
authored	[InstanceEdit:9660568] Shamovsky, Veronica, 2019-09-09
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9651463] Shamovsky, Veronica, 2019-06-26
disease	[Disease:9650398] C1 inhibitor deficiency
edited	[InstanceEdit:9690131] Shamovsky, Veronica, 2020-05-26
entityFunctionalStatus	[EntityFunctionalStatus:9650320] loss_of_function of HAE type 2-causing SERPING1 variants [extracellular region]
input	[Complex:158140] Plasma kallikrein [extracellular region] [Homo sapiens] [CandidateSet:9650491] HAE type 2-causing SERPING1 variants [extracellular region] [Homo sapiens]
literatureReference	[LiteratureReference:9651482] High-molecular-weight kininogen cleavage correlates with disease states in the bradykinin-mediated angioedema due to hereditary C1-inhibitor deficiency [LiteratureReference:9651430] Characterization of C1 inhibitor-Ta. A dysfunctional C1INH with deletion of lysine 251 [LiteratureReference:9650476] CpG mutations in the reactive site of human C1 inhibitor [LiteratureReference:9650449] Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function [LiteratureReference:9650467] A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu) [LiteratureReference:9650515] A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema [LiteratureReference:9651414] The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant [LiteratureReference:9650312] Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene [LiteratureReference:9650531] Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma [LiteratureReference:9650370] Substrate properties of C1 inhibitor Ma (alanine 434----glutamic acid). Genetic and structural evidence suggesting that the P12-region contains critical determinants of serine protease inhibitor/substrate status
modified	[InstanceEdit:9653889] Shamovsky, Veronica, 2019-07-15 [InstanceEdit:9671817] Shamovsky, Veronica, 2019-12-20 [InstanceEdit:9672381] Shamovsky, Veronica, 2019-12-25 [InstanceEdit:9676086] Shamovsky, Veronica, 2020-02-07 [InstanceEdit:9676355] Shamovsky, Veronica, 2020-02-13 [InstanceEdit:9681504] Shamovsky, Veronica, 2020-04-02 [InstanceEdit:9686299] Shamovsky, Veronica, 2020-04-29 [InstanceEdit:9687144] Shamovsky, Veronica, 2020-05-06 [InstanceEdit:9690135] Shamovsky, Veronica, 2020-05-26 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 [InstanceEdit:9979534] Shamovsky, Veronica, 2026-01-20
name	SERPING1 variant does not bind kallikrein
normalReaction	[Reaction:158399] kallikrein binds SERPING1 [Homo sapiens]
precedingEvent	[Reaction:158311] OBSOLETE_kallikrein:kininogen:C1q binding protein tetramer -> kallikrein + activated kininogen:C1q binding protein tetramer + bradykinin_REPLACEMENT_9938539 [Homo sapiens] [Reaction:158251] OBSOLETE_prekallikrein:kininogen:C1q binding protein tetramer -> kallikrein:kininogen:C1q binding protein tetramer_REPLACMENT_9857945 [Homo sapiens] [Reaction:9938539] kallikrein:kininogen:cell surface receptor -> kallikrein + cleaved kininogen:cell surface receptor + bradykinin [Homo sapiens] [Reaction:9909046] kallikrein:kininogen:cell surface receptor:factor XII -> kallikrein:kininogen:cell surface receptor + factor XIIa (kallikrein catalyst) [Homo sapiens] [Reaction:9655850] prekallikrein:kininogen:C1QBP, C1QBP:KRT1, PLAUR:KRT1-> kallikrein:kininogen:C1QBP, C1QBP:KRT1, PLAUR:KRT1 (FXIIa catalyst) [Homo sapiens]
releaseDate	2020-06-10
reviewed	[InstanceEdit:9673821] D'Eustachio, Peter, 2020-01-09 [InstanceEdit:9681505] Zhang, Bin, 2020-04-02
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9651499] R-HSA-9651467.3
summation	[Summation:9653888] Prekallikrein circulates as a 1:1 molar complex with high mo...
(hasEvent)	[Pathway:9657689] Defective SERPING1 causes hereditary angioedema [Homo sapiens]
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