Reactome | Defective SLC4A4 does not cotransport Na+ with 3HCO3-

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Defective SLC4A4 does not cotransport Na+ with 3HCO3- Show undefined attributes

authored	[InstanceEdit:5656252] Jassal, Bijay, 2014-12-11
catalystActivity	[CatalystActivity:9631980] sodium:bicarbonate symporter activity of SLC4A4 mutants [plasma membrane]
category	transition
compartment	[Compartment:70101] cytosol [Compartment:876] plasma membrane
created	[InstanceEdit:5656252] Jassal, Bijay, 2014-12-11
dbId	5656219
disease	[Disease:5656215] renal tubular acidosis
displayName	Defective SLC4A4 does not cotransport Na+ with 3HCO3-
edited	[InstanceEdit:5656252] Jassal, Bijay, 2014-12-11
entityFunctionalStatus	[EntityFunctionalStatus:5656260] loss_of_function of SLC4A4 mutants [plasma membrane]
eventOf	[Pathway:R-HSA-5619054] Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) - Homo sapiens
input	3 × [SimpleEntity:R-ALL-111627] HCO3- [cytosol] [SimpleEntity:R-ALL-83910] Na+ [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:425566] Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities [LiteratureReference:5656202] A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects [LiteratureReference:5656262] Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities [LiteratureReference:5656232] Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis [LiteratureReference:5656257] Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC4A4 does not cotransport Na+ with 3HCO3-
normalReaction	[Reaction:R-HSA-8878664] SLC4A4 cotransports Na+ with 3HCO3-
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-5656219
summation	[Summation:5656251] Members 4, 5, 7 and 9 of the SLC4A family couple the transpo...

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[Pathway:R-HSA-5619054] Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)