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Details on Person Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane

Class:IdFailedReaction:5660910
_displayNameDefective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane
_doReleaseTRUE
_timestamp2015-09-04 20:51:12
authored[InstanceEdit:5660943] Jassal, Bijay, 2015-01-07
catalystActivity[CatalystActivity:9631923] amino acid transmembrane transporter activity of SLC3A2:SLC7A7 mutants [plasma membrane]
compartment[Compartment:70101] cytosol
[Compartment:984] extracellular region
[Compartment:876] plasma membrane
created[InstanceEdit:5660943] Jassal, Bijay, 2015-01-07
disease[Disease:5625037] amino acid metabolic disorder
edited[InstanceEdit:5660943] Jassal, Bijay, 2015-01-07
entityFunctionalStatus[EntityFunctionalStatus:5660833] loss_of_function of SLC3A2:SLC7A7 mutants [plasma membrane]
input[SimpleEntity:29468] L-Arg [cytosol]
[SimpleEntity:351964] L-Leu [extracellular region]
[SimpleEntity:74113] Na+ [extracellular region]
isChimericFALSE
literatureReference[LiteratureReference:5660851] SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
[LiteratureReference:5660884] Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene
[LiteratureReference:5660887] Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
[LiteratureReference:5660886] Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene
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
nameDefective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane
normalReaction
releaseDate2015-09-22
releaseStatusNEW
reviewed[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:6797185] R-HSA-5660910.3
summation[Summation:5660938] SLC7A7 encodes the y+L amino acid transporter 1 (y+LAT1). As...
(hasEvent)[Pathway:5619093] Defective SLC7A7 in vascular wall interactions causes lysinuric protein intolerance (LPI) [Homo sapiens]
[Pathway:5660862] Defective amino acid transport by SLC7A7 causes lysinuric protein intolerance (LPI) [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778037] Update Tracker - [FailedReaction:5660910] Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane - v68:[addCatalystActivity]
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