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Schema
>
FailedReaction
>
Entries
Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs
Show undefined attributes
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authored
[InstanceEdit:2466812] Jassal, Bijay, 2012-09-12
catalystActivity
[CatalystActivity:9631771] O-palmitoyltransferase activity of LRAT S175R [endoplasmic reticulum membrane]
category
transition
compartment
[Compartment:12045] endoplasmic reticulum membrane
[Compartment:70101] cytosol
created
[InstanceEdit:2466812] Jassal, Bijay, 2012-09-12
crossReference
[DatabaseIdentifier:12020957] Mondo:0018998
dbId
2466710
disease
[Disease:2471664] Leber congenital amaurosis
displayName
Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs
edited
[InstanceEdit:2466812] Jassal, Bijay, 2012-09-12
entityFunctionalStatus
[EntityFunctionalStatus:2466776] loss_of_function of LRAT S175R [endoplasmic reticulum membrane]
eventOf
[Pathway:R-HSA-9918442] Defective visual phototransduction due to LRAT loss of function - Homo sapiens
input
[Complex:R-HSA-2864101] RBP1:atROL [cytosol]
[SimpleEntity:R-ALL-9982900] RCOO- [plasma membrane]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:2466740] Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions
[LiteratureReference:2466713] Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
[LiteratureReference:2466707] Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis
[LiteratureReference:2466843] Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays
maxDepth
1
modified
[InstanceEdit:9984898] Weiser, Joel, 2026-03-12
name
Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs
normalReaction
[Reaction:R-HSA-2453855] LRAT esterifies RBP1:atROL and FACYLs to atREs
previousReviewStatus
[ReviewStatus:9821385] four stars
releaseDate
2013-03-12
releaseStatus
UPDATED
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:3006584] Blaner, William S, 2013-01-31
[InstanceEdit:9982913] D'Eustachio, Peter, 2026-02-20
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-2466710
summation
[Summation:2466798] Normally functioning lecithin retinol acyltransferase (LRAT)...
updateTrackers
[UpdateTracker:9779932] Update Tracker - [FailedReaction:2466710] Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs - v64:[add_removeInput]
[UpdateTracker:9778135] Update Tracker - [FailedReaction:2466710] Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs - v68:[addCatalystActivity]
[UpdateTracker:9984593] Update Tracker - [FailedReaction:2466710] Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs - v96:[add_removeInput]
Referrals
(updatedInstance)
[UpdateTracker:9779932] Update Tracker - [FailedReaction:2466710] Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs - v64:[add_removeInput]
[UpdateTracker:9778135] Update Tracker - [FailedReaction:2466710] Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs - v68:[addCatalystActivity]
[UpdateTracker:9984593] Update Tracker - [FailedReaction:2466710] Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs - v96:[add_removeInput]
(hasEvent)
[Pathway:R-HSA-9918442] Defective visual phototransduction due to LRAT loss of function
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