Reactome | FIXa variant:FVIIIa does not convert FX to the active FXa

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FIXa variant:FVIIIa does not convert FX to the active FXa Show undefined attributes

authored	[InstanceEdit:9660568] Shamovsky, Veronica, 2019-09-09
catalystActivity	[CatalystActivity:9670844] serine-type endopeptidase activity of factor VIIIa:factor IXa variant [plasma membrane]
category	transition
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:9670828] Shamovsky, Veronica, 2019-12-17
crossReference	[DatabaseIdentifier:12020816] Mondo:0010604
dbId	9670874
disease	[Disease:9670882] hemophilia B
displayName	FIXa variant:FVIIIa does not convert FX to the active FXa
edited	[InstanceEdit:9690131] Shamovsky, Veronica, 2020-05-26
entityFunctionalStatus	[EntityFunctionalStatus:9670879] loss_of_function of factor VIIIa:factor IXa variant [plasma membrane]
eventOf	[Pathway:R-HSA-9673202] Defective F9 variant does not activate FX - Homo sapiens
input	20 × [SimpleEntity:R-ALL-74112] Ca2+ [extracellular region] [Complex:R-HSA-140739] factor X [extracellular region]
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9670918] Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients [LiteratureReference:9670818] Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site [LiteratureReference:9670916] Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities [LiteratureReference:9671011] Experimental and theoretical evidence supporting the role of Gly363 in blood coagulation factor IXa (Gly193 in chymotrypsin) for proper activation of the proenzyme [LiteratureReference:9671002] Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX [LiteratureReference:9670825] Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not L-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothrombin time and the mutation site in the variant proteins [LiteratureReference:9673459] Factor IX Bm Kiryu: a Val-313-to-Asp substitution in the catalytic domain results in loss of function due to a conformational change of the surface loop: evidence obtained by chimaeric modelling
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	FIXa variant:FVIIIa does not convert FX to the active FXa
normalReaction	[Reaction:R-HSA-158164] factor X -> factor Xa + factor X activation peptide (VIIIa:IXa catalyst)
releaseDate	2020-06-10
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9673821] D'Eustachio, Peter, 2020-01-09 [InstanceEdit:9681505] Zhang, Bin, 2020-04-02
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9670874
summation	[Summation:9670834] Factor IX (FIX) is a vitamin K-dependent trypsin-like serine...

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[Pathway:R-HSA-9673202] Defective F9 variant does not activate FX