Reactome | Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes)

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Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes) Show undefined attributes

authored	[InstanceEdit:5656252] Jassal, Bijay, 2014-12-11
catalystActivity	[CatalystActivity:9631873] solute:inorganic anion antiporter activity of SLC4A1 mutants [plasma membrane]
category	transition
compartment	[Compartment:876] plasma membrane [Compartment:70101] cytosol [Compartment:984] extracellular region
created	[InstanceEdit:5656252] Jassal, Bijay, 2014-12-11
crossReference	[DatabaseIdentifier:12021006] Mondo:0019350
dbId	5656248
disease	[Disease:5656223] hereditary spherocytosis [Disease:5656215] renal tubular acidosis [Disease:5602914] hemolytic anemia
displayName	Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes)
edited	[InstanceEdit:5656252] Jassal, Bijay, 2014-12-11
entityFunctionalStatus	[EntityFunctionalStatus:5657848] loss_of_function of SLC4A1 mutants [plasma membrane]
eventOf	[Pathway:R-HSA-5619050] Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) - Homo sapiens
input	[SimpleEntity:R-ALL-188972] Cl- [extracellular region] [SimpleEntity:R-ALL-111627] HCO3- [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5657851] Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 [LiteratureReference:425402] Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene [LiteratureReference:5657844] Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells [LiteratureReference:5657858] Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes)
normalReaction	[Reaction:R-HSA-1237038] SLC4A1 exchanges cytosolic HCO3- for extracellular Cl-
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-5656248
summation	[Summation:5657837] The proteins responsible for the exchange of Cl- with HCO3- ...
updateTrackers	[UpdateTracker:9778177] Update Tracker - [FailedReaction:5656248] Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes) - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778177] Update Tracker - [FailedReaction:5656248] Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes) - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5619050] Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)

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