Reactome | Defective SLC3A1 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu

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Defective SLC3A1 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu Show undefined attributes

authored	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
catalystActivity	[CatalystActivity:9631936] amino acid transmembrane transporter activity of SLC3A1 mutants:SLC7A9 [plasma membrane]
category	transition
compartment	[Compartment:70101] cytosol [Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
crossReference	[DatabaseIdentifier:12020982] Mondo:0009067
dbId	5655702
disease	[Disease:5655785] cystinuria
displayName	Defective SLC3A1 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu
edited	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
entityFunctionalStatus	[EntityFunctionalStatus:5655770] loss_of_function of SLC3A1 mutants:SLC7A9 [plasma membrane]
eventOf	[Pathway:R-HSA-5619113] Defective SLC3A1 causes cystinuria (CSNU) - Homo sapiens
input	[DefinedSet:R-ALL-379430] L-Arg, CySS-, L-Lys [extracellular region] [SimpleEntity:R-ALL-29588] L-Leu [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5655768] Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine [LiteratureReference:5655810] Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC3A1 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu
normalReaction	[Reaction:R-HSA-379432] SLC7A9:SLC3A1 exchanges L-Arg, CySS-, L-Lys for L-Leu
releaseDate	2015-09-22
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5655702
summation	[Summation:5655721] Neutral and basic amino acid transport protein rBAT (SLC3A1)...
updateTrackers	[UpdateTracker:9778555] Update Tracker - [FailedReaction:5655702] Defective SLC3A1 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778555] Update Tracker - [FailedReaction:5655702] Defective SLC3A1 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5619113] Defective SLC3A1 causes cystinuria (CSNU)

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