Reactome | Defective ABCA1 does not transport CHOL from transport vesicle membrane to plasma membrane

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Defective ABCA1 does not transport CHOL from transport vesicle membrane to plasma membrane Show undefined attributes

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...

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[Pathway:R-HSA-5682113] Defective ABCA1 causes TGD

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