Reactome | 3OHD110-F9(29-461) N43Q [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9673229] Shamovsky, Veronica, 2020-01-07
dbId	9673217
displayName	3OHD110-F9(29-461) N43Q [endoplasmic reticulum lumen]
endCoordinate	461
hasModifiedResidue	[ModifiedResidue:140818] (2S,3R)-3-hydroxyaspartic acid at 110 [ReplacedResidue:9673247] L-arginine 43 replaced with L-glutamine
inDisease	false
literatureReference	[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 [LiteratureReference:140890] The occurrence of beta-hydroxyaspartic acid in the vitamin K-dependent blood coagulation zymogens [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.
maxDepth	1
memberOf	[DefinedSet:R-HSA-9673245] 3OHD110-F9(29-461) variant [endoplasmic reticulum lumen] - Homo sapiens
name	3OHD110-F9(29-461) N43Q pro-factor IX N43Q, uncarboxylated
referenceEntity	[ReferenceGeneProduct:uniprot:P00740] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9673217
startCoordinate	29

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