Reactome | Defective ABCA3 does not transport PC, PG from ER membrane to lamellar body

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Defective ABCA3 does not transport PC, PG from ER membrane to lamellar body Show undefined attributes

authored	[InstanceEdit:5688387] Jassal, Bijay, 2015-04-16
catalystActivity	[CatalystActivity:9631963] lipid transporter activity of ABCA3 mutants [lamellar body membrane]
category	transition
compartment	[Compartment:2133233] lamellar body membrane [Compartment:70101] cytosol [Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:5688387] Jassal, Bijay, 2015-04-16
dbId	5688397
disease	[Disease:5688359] interstitial lung disease [Disease:5683679] newborn respiratory distress syndrome
displayName	Defective ABCA3 does not transport PC, PG from ER membrane to lamellar body
edited	[InstanceEdit:5688387] Jassal, Bijay, 2015-04-16
entityFunctionalStatus	[EntityFunctionalStatus:5688401] loss_of_function of ABCA3 mutants [lamellar body membrane]
eventOf	[Pathway:R-HSA-5688399] Defective ABCA3 causes SMDP3 - Homo sapiens
input	[SimpleEntity:R-ALL-113592] ATP [cytosol] [SimpleEntity:R-ALL-29356] H2O [cytosol] [DefinedSet:R-ALL-5684863] PC, PG [endoplasmic reticulum membrane]
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:1368981] ABCA3 gene mutations in newborns with fatal surfactant deficiency [LiteratureReference:5688402] Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency [LiteratureReference:5688398] Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease [LiteratureReference:5688386] Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective ABCA3 does not transport PC, PG from ER membrane to lamellar body
normalReaction	[Reaction:R-HSA-5683714] ABCA3 transports PC, PG from ER membrane to lamellar body
releaseDate	2015-09-22
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6791021] D'Eustachio, Peter, 2015-08-17
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5688397
summation	[Summation:5688400] ATP-binding cassette sub-family A member 3 (ABCA3) plays an ...

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[Pathway:R-HSA-5688399] Defective ABCA3 causes SMDP3

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