Reactome | Defective SLC12A1 does not cotransport Na+, K+, 2Cl- from extracellular region to cytosol

Schema > FailedReaction > Entries

Defective SLC12A1 does not cotransport Na+, K+, 2Cl- from extracellular region to cytosol Show undefined attributes

authored	[InstanceEdit:5623578] Jassal, Bijay, 2014-09-17
catalystActivity	[CatalystActivity:9631844] sodium:potassium:chloride symporter activity of SLC12A1 mutants [plasma membrane]
category	transition
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5623578] Jassal, Bijay, 2014-09-17
crossReference	[DatabaseIdentifier:12021022] Mondo:0015231
dbId	5623588
disease	[Disease:5623577] Bartter disease
displayName	Defective SLC12A1 does not cotransport Na+, K+, 2Cl- from extracellular region to cytosol
edited	[InstanceEdit:5623578] Jassal, Bijay, 2014-09-17
entityFunctionalStatus	[EntityFunctionalStatus:5623562] loss_of_function of SLC12A1 mutants [plasma membrane]
eventOf	[Pathway:R-HSA-5619104] Defective SLC12A1 causes Bartter syndrome 1 (BS1) - Homo sapiens
input	2 × [SimpleEntity:R-ALL-188972] Cl- [extracellular region] [SimpleEntity:R-ALL-74126] K+ [extracellular region] [SimpleEntity:R-ALL-74113] Na+ [extracellular region]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:426143] Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2 [LiteratureReference:5623569] A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect [LiteratureReference:5623570] Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC12A1 does not cotransport Na+, K+, 2Cl- from extracellular region to cytosol
normalReaction	[Reaction:R-HSA-426086] SLC12A1,2 cotransports Na+, K+, 2Cl- 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-5623588
summation	[Summation:5623584] The solute carrier family 12 member 1 (SLC12A1, NKCC2) is a ...
updateTrackers	[UpdateTracker:9778112] Update Tracker - [FailedReaction:5623588] Defective SLC12A1 does not cotransport Na+, K+, 2Cl- from extracellular region to cytosol - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778112] Update Tracker - [FailedReaction:5623588] Defective SLC12A1 does not cotransport Na+, K+, 2Cl- from extracellular region to cytosol - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5619104] Defective SLC12A1 causes Bartter syndrome 1 (BS1)

Cite Us!