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Details on Person Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes)

Class:IdFailedReaction:5656248
_displayNameDefective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes)
_doReleaseTRUE
_timestamp2015-09-04 20:50:53
authored[InstanceEdit:5656252] Jassal, Bijay, 2014-12-11
catalystActivity[CatalystActivity:9631873] solute:inorganic anion antiporter activity of SLC4A1 mutants [plasma membrane]
compartment[Compartment:876] plasma membrane
[Compartment:70101] cytosol
[Compartment:984] extracellular region
created[InstanceEdit:5656252] Jassal, Bijay, 2014-12-11
disease[Disease:5656223] hereditary spherocytosis
[Disease:5656215] renal tubular acidosis
[Disease:5602914] hemolytic anemia
edited[InstanceEdit:5656252] Jassal, Bijay, 2014-12-11
entityFunctionalStatus[EntityFunctionalStatus:5657848] loss_of_function of SLC4A1 mutants [plasma membrane]
input[SimpleEntity:188972] Cl- [extracellular region]
[SimpleEntity:111627] HCO3- [cytosol]
isChimericFALSE
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
modified[InstanceEdit:5657850] Jassal, Bijay, 2014-12-16
[InstanceEdit:5663019] Jassal, Bijay, 2015-01-14
[InstanceEdit:6789777] Jassal, Bijay, 2015-08-04
[InstanceEdit:6793341] Jassal, Bijay, 2015-09-01
[InstanceEdit:6793492] Jassal, Bijay, 2015-09-01
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes)
normalReaction
releaseDate2015-09-22
releaseStatusNEW
reviewed[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:6797168] R-HSA-5656248.3
summation[Summation:5657837] The proteins responsible for the exchange of Cl- with HCO3- ...
(hasEvent)[Pathway:5619050] Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778177] Update Tracker - [FailedReaction:5656248] Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes) - v68:[addCatalystActivity]
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