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Schema
>
FailedReaction
>
Entries
Defective PAPSS2 does not transfer SO4(2-) group to ATP to form APS
Show undefined attributes
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authored
[InstanceEdit:3560797] Jassal, B, 2013-05-21
catalystActivity
[CatalystActivity:9631869] sulfate adenylyltransferase (ATP) activity of PAPSS2 mutants [cytosol]
category
transition
compartment
[Compartment:70101] cytosol
created
[InstanceEdit:3560797] Jassal, B, 2013-05-21
crossReference
[DatabaseIdentifier:12020883] Mondo:0100510
dbId
3560794
disease
[Disease:3656231] spondyloepimetaphyseal dysplasia
displayName
Defective PAPSS2 does not transfer SO4(2-) group to ATP to form APS
edited
[InstanceEdit:3560797] Jassal, B, 2013-05-21
entityFunctionalStatus
[EntityFunctionalStatus:3621826] loss_of_function of PAPSS2 mutants [cytosol]
eventOf
[Pathway:R-HSA-3560796] Defective PAPSS2 causes SEMD-PA - Homo sapiens
input
[SimpleEntity:R-ALL-113592] ATP [cytosol]
[SimpleEntity:R-ALL-174375] SO4(2-) [cytosol]
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:176653] Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse
[LiteratureReference:3621704] Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred
[LiteratureReference:3621763] Inactivating PAPSS2 mutations in a patient with premature pubarche
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective PAPSS2 does not transfer SO4(2-) group to ATP to form APS
normalReaction
[Reaction:R-HSA-174392] PAPSS1,2 transfer SO4(2-) group to ATP to form APS
releaseDate
2014-09-30
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-3560794
summation
[Summation:176662] In the first step of PAPS biosynthesis, ATP and sulfate reac...
updateTrackers
[UpdateTracker:9778042] Update Tracker - [FailedReaction:3560794] Defective PAPSS2 does not transfer SO4(2-) group to ATP to form APS - v68:[addCatalystActivity]
Referrals
(updatedInstance)
[UpdateTracker:9778042] Update Tracker - [FailedReaction:3560794] Defective PAPSS2 does not transfer SO4(2-) group to ATP to form APS - v68:[addCatalystActivity]
(hasEvent)
[Pathway:R-HSA-3560796] Defective PAPSS2 causes SEMD-PA
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