Reactome | Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol

Schema > FailedReaction > Entries

Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol Show undefined attributes

authored	[InstanceEdit:5623793] Jassal, Bijay, 2014-09-19
catalystActivity	[CatalystActivity:9631846] sodium:chloride symporter activity of SLC12A3 mutants [plasma membrane]
category	transition
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5623756] Jassal, Bijay, 2014-09-19
crossReference	[DatabaseIdentifier:12021017] Mondo:0009904
dbId	5623705
disease	[Disease:5623757] Gitelman syndrome
displayName	Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol
edited	[InstanceEdit:5623793] Jassal, Bijay, 2014-09-19
entityFunctionalStatus	[EntityFunctionalStatus:5623739] loss_of_function of SLC12A3 mutants [plasma membrane]
eventOf	[Pathway:R-HSA-5619087] Defective SLC12A3 causes Gitelman syndrome (GS) - Homo sapiens
input	[SimpleEntity:R-ALL-188972] Cl- [extracellular region] [SimpleEntity:R-ALL-74113] Na+ [extracellular region]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:426108] Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter [LiteratureReference:5623692] Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome [LiteratureReference:5623701] Phosphorylation regulates NCC stability and transporter activity in vivo
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol
normalReaction	[Reaction:R-HSA-426130] SLC12A3 cotransports Cl-, Na+ from extracellular region to cytosol
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-5623705
summation	[Summation:5623702] The SLC12A3 gene encodes for the Thiazide-sensitive sodium-c...
updateTrackers	[UpdateTracker:9777931] Update Tracker - [FailedReaction:5623705] Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9777931] Update Tracker - [FailedReaction:5623705] Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5619087] Defective SLC12A3 causes Gitelman syndrome (GS)

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