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Details on Person Defective procollagen type V

Class:Id	Reaction:9013588
_displayName	Defective procollagen type V
_timestamp	2017-09-27 13:03:00
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9013591] Varusai, Thawfeek, 2017-07-25
disease	[Disease:3656228] Ehlers-Danlos syndrome
input	[DefinedSet:9013596] COL5A1 mutants [endoplasmic reticulum lumen] [Homo sapiens] [DefinedSet:9013596] COL5A1 mutants [endoplasmic reticulum lumen] [Homo sapiens] [DefinedSet:9013596] COL5A1 mutants [endoplasmic reticulum lumen] [Homo sapiens] [DefinedSet:2025767] Alpha-2(V) propeptides [endoplasmic reticulum lumen] [Homo sapiens] [DefinedSet:2025767] Alpha-2(V) propeptides [endoplasmic reticulum lumen] [Homo sapiens] [DefinedSet:2025755] Alpha-3(V) propeptides [endoplasmic reticulum lumen] [Homo sapiens] [DefinedSet:2025755] Alpha-3(V) propeptides [endoplasmic reticulum lumen] [Homo sapiens] [DefinedSet:2025755] Alpha-3(V) propeptides [endoplasmic reticulum lumen] [Homo sapiens] [DefinedSet:2025755] Alpha-3(V) propeptides [endoplasmic reticulum lumen] [Homo sapiens]
isChimeric	FALSE
literatureReference	[LiteratureReference:9014027] Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria [LiteratureReference:9014031] Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I
modified	[InstanceEdit:9013624] Varusai, Thawfeek, 2017-07-25 [InstanceEdit:9014026] Varusai, Thawfeek, 2017-07-26 [InstanceEdit:9014039] Varusai, Thawfeek, 2017-07-26 [InstanceEdit:9014268] Varusai, Thawfeek, 2017-07-27 [InstanceEdit:9014521] Varusai, Thawfeek, 2017-08-01 [InstanceEdit:9015580] Varusai, Thawfeek, 2017-08-10 [InstanceEdit:9017214] Varusai, Thawfeek, 2017-08-17 [InstanceEdit:9023274] Varusai, Thawfeek, 2017-09-27
name	Defective procollagen type V
normalReaction	[Reaction:8944223] Association of procollagen type V [Homo sapiens]
output	[DefinedSet:9013584] Defective C-linked procollagen type V trimers [endoplasmic reticulum lumen] [Homo sapiens]
precedingEvent	[BlackBoxEvent:8948231] COLGALT1,COLGALT2:Galactosyl-hydroxylysyl collagen propeptides dissociates [Homo sapiens] [Reaction:1981120] Galactosylation of collagen propeptide hydroxylysines by procollagen galactosyltransferases 1, 2 [Homo sapiens] [BlackBoxEvent:8948232] Lysyl hydroxylated collagen propeptides dissociate from Lysyl hydroxylases [Homo sapiens] [Reaction:1981104] Procollagen lysyl hydroxylases convert collagen lysines to 5-hydroxylysines [Homo sapiens] [BlackBoxEvent:8948234] P4HB:4-Hyp collagen propeptides dissociates [Homo sapiens] [Reaction:1650808] Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines [Homo sapiens] [BlackBoxEvent:8948222] PLOD3:Fe2+ dimer:Galactosyl-hydroxylysyl collagen propeptides dissociates [Homo sapiens] [Reaction:1981128] Galactosylation of collagen propeptide hydroxylysines by PLOD3 [Homo sapiens] [BlackBoxEvent:8948224] PLOD3:Fe2+ dimer:Glucosyl-galactosyl-hydroxylysyl collagen propeptides dissociates [Homo sapiens] [Reaction:1981157] Glucosylation of collagen propeptide hydroxylysines [Homo sapiens] [BlackBoxEvent:8948226] Prolyl 3-hydroxylases:Fe2+:3,4-Hyp collagen propeptides dissociates [Homo sapiens] [Reaction:1980233] Collagen prolyl 3-hydroxylase converts 4-Hyp collagen to 3,4-Hyp collagen [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9013610] R-HSA-9013588.1
summation	[Summation:9013586] Mutations in procollagen peptide type V (COL5A1) can cause d...
(hasEvent)	[Pathway:9013605] Disorders of collagen chain trimerization [Homo sapiens]
(precedingEvent)	[Reaction:9014041] Defective procollagen type V bind to form an abnormal procollagen triple helix [Homo sapiens]
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No pathways have been reviewed or authored by Defective procollagen type V (9013588)