Reactome | Defective SLC24A5 does not exchange cytosolic 4Na+ for Golgi luminal Ca2+, K+

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Defective SLC24A5 does not exchange cytosolic 4Na+ for Golgi luminal Ca2+, K+ Show undefined attributes

authored	[InstanceEdit:5626342] Jassal, Bijay, 2014-10-09
catalystActivity	[CatalystActivity:9631890] calcium, potassium:sodium antiporter activity of SLC24A5 mutants [trans-Golgi network membrane]
category	transition
compartment	[Compartment:17963] Golgi lumen [Compartment:70101] cytosol [Compartment:263163] trans-Golgi network membrane
created	[InstanceEdit:5626342] Jassal, Bijay, 2014-10-09
crossReference	[DatabaseIdentifier:12020983] Mondo:0018910
dbId	5626356
disease	[Disease:5626323] oculocutaneous albinism
displayName	Defective SLC24A5 does not exchange cytosolic 4Na+ for Golgi luminal Ca2+, K+
edited	[InstanceEdit:5626342] Jassal, Bijay, 2014-10-09
entityFunctionalStatus	[EntityFunctionalStatus:5626338] loss_of_function of SLC24A5 mutants [trans-Golgi network membrane]
eventOf	[Pathway:R-HSA-5619036] Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) - Homo sapiens
input	[SimpleEntity:R-ALL-167012] Ca2+ [Golgi lumen] [SimpleEntity:R-ALL-5626313] K+ [Golgi lumen] 4 × [SimpleEntity:R-ALL-83910] Na+ [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5626357] Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings [LiteratureReference:5626363] Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC24A5 does not exchange cytosolic 4Na+ for Golgi luminal Ca2+, K+
normalReaction	[Reaction:R-HSA-5626316] SLC24A5 exchanges cytosolic 4Na+ for Golgi luminal Ca2+, K+
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-5626356
summation	[Summation:5626333] Five members of the NCKX (SLC24) family are all able to exch...
updateTrackers	[UpdateTracker:9778097] Update Tracker - [FailedReaction:5626356] Defective SLC24A5 does not exchange cytosolic 4Na+ for Golgi luminal Ca2+, K+ - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778097] Update Tracker - [FailedReaction:5626356] Defective SLC24A5 does not exchange cytosolic 4Na+ for Golgi luminal Ca2+, K+ - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5619036] Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)

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