Reactome | 3OHD110-F9(29-461) variant [endoplasmic reticulum lumen]

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3OHD110-F9(29-461) variant [endoplasmic reticulum lumen] Show undefined attributes

compartment	[Compartment:17957] endoplasmic reticulum lumen
consumedByEvent	[FailedReaction:R-HSA-9673231] GGCX does not gamma-carboxylate 3D-F9(29-461) (pro-factor IX) - Homo sapiens
created	[InstanceEdit:9673229] Shamovsky, Veronica, 2020-01-07
crossReference	[DatabaseIdentifier:12020816] Mondo:0010604
dbId	9673245
disease	[Disease:9670882] hemophilia B
displayName	3OHD110-F9(29-461) variant [endoplasmic reticulum lumen]
hasMember	[EntityWithAccessionedSequence:R-HSA-9673207] 3OHD110-F9(29-461) N43L [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9673217] 3OHD110-F9(29-461) N43Q [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9673235] 3OHD110-F9(29-461) N43W [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9673232] 3OHD110-F9(29-461) N46S [endoplasmic reticulum lumen] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:9673249] Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw [LiteratureReference:159725] Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties. [LiteratureReference:9673188] Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa
maxDepth	2
modified	[InstanceEdit:9676349] Shamovsky, Veronica, 2020-02-13
name	3OHD110-F9(29-461) variant
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9673245

Referrals

(input)	[FailedReaction:R-HSA-9673231] GGCX does not gamma-carboxylate 3D-F9(29-461) (pro-factor IX)
(diseaseEntity)	[EntityFunctionalStatus:9673182] loss_of_function of 3OHD110-F9(29-461) variant [endoplasmic reticulum lumen]

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