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Schema
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FailedReaction
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Entries
Defective ABCA1 does not transport CHOL from transport vesicle membrane to plasma membrane
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authored
[InstanceEdit:5682115] Jassal, Bijay, 2015-03-05
catalystActivity
[CatalystActivity:9631839] cholesterol transfer activity of APOA1(25-266):ABCA1 mutants [plasma membrane]
category
transition
compartment
[Compartment:876] plasma membrane
[Compartment:70101] cytosol
[Compartment:13946] transport vesicle membrane
created
[InstanceEdit:5682115] Jassal, Bijay, 2015-03-05
dbId
5682111
disease
[Disease:5682114] Tangier disease
displayName
Defective ABCA1 does not transport CHOL from transport vesicle membrane to plasma membrane
edited
[InstanceEdit:5682115] Jassal, Bijay, 2015-03-05
entityFunctionalStatus
[EntityFunctionalStatus:5682220] loss_of_function of APOA1(25-266):ABCA1 mutants [plasma membrane]
eventOf
[Pathway:R-HSA-5682113] Defective ABCA1 causes TGD - Homo sapiens
input
[SimpleEntity:R-ALL-113592] ATP [cytosol]
[SimpleEntity:R-ALL-216762] CHOL [transport vesicle membrane]
[SimpleEntity:R-ALL-29356] H2O [cytosol]
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:5682242] Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
[LiteratureReference:5682276] Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome
[LiteratureReference:5682214] Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease
[LiteratureReference:5682236] Effects of mutations of ABCA1 in the first extracellular domain on subcellular trafficking and ATP binding/hydrolysis
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective ABCA1 does not transport CHOL from transport vesicle membrane to plasma membrane
normalReaction
[Reaction:R-HSA-216723] 4xPALM-C-p-2S-ABCA1 tetramer transports CHOL from transport vesicle membrane to plasma membrane
releaseDate
2015-12-15
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:6797619] Shukla, Suneet, 2015-09-15
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-5682111
summation
[Summation:5682281] In an ATP-dependent reaction, ATP-binding cassette sub-famil...
Referrals
(hasEvent)
[Pathway:R-HSA-5682113] Defective ABCA1 causes TGD
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