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Details on Person Defective SLC3A1 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu

Class:Id	FailedReaction:5655702
_displayName	Defective SLC3A1 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu
_doRelease	TRUE
_timestamp	2015-09-04 20:50:49
authored	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
catalystActivity	[CatalystActivity:9631936] amino acid transmembrane transporter activity of SLC3A1 mutants:SLC7A9 [plasma membrane]
compartment	[Compartment:70101] cytosol [Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
disease	[Disease:5655785] cystinuria
edited	[InstanceEdit:5655819] Jassal, Bijay, 2014-12-09
entityFunctionalStatus	[EntityFunctionalStatus:5655770] loss_of_function of SLC3A1 mutants:SLC7A9 [plasma membrane]
input	[DefinedSet:379430] L-Arg, CySS-, L-Lys [extracellular region] [SimpleEntity:29588] L-Leu [cytosol]
isChimeric	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
modified	[InstanceEdit:5663019] Jassal, Bijay, 2015-01-14 [InstanceEdit:6789777] Jassal, Bijay, 2015-08-04 [InstanceEdit:9631717] Wu, G, 2018-12-12 [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:379432] SLC7A9:SLC3A1 exchanges L-Arg, CySS-, L-Lys for L-Leu [Homo sapiens]
releaseDate	2015-09-22
releaseStatus	NEW
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:6797164] R-HSA-5655702.3
summation	[Summation:5655721] Neutral and basic amino acid transport protein rBAT (SLC3A1)...
(hasEvent)	[Pathway:5619113] Defective SLC3A1 causes cystinuria (CSNU) [Homo sapiens]
(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]
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