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Details on Person Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane
| Class:Id | FailedReaction:5660910 |
| _displayName | Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane |
| _doRelease | TRUE |
| _timestamp | 2015-09-04 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] |
| isChimeric | FALSE |
| 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 |
| name | Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane |
| normalReaction |
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| 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: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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