Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
Am J Physiol Cell Physiol
2010 Feb 01;2982:C283-97. doi: 10.1152/ajpcell.00444.2009.
Show Gene links
Show Anatomy links
The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes.
Stewart AK, Vandorpe DH, Heneghan JF, Chebib F, Stolpe K, Akhavein A, Edelman EJ, Maksimova Y, Gallagher PG, Alper SL.
???displayArticle.abstract???
The previously undescribed heterozygous missense mutation E758K was discovered in the human AE1/SLC4A1/band 3 gene in two unrelated patients with well-compensated hereditary spherostomatocytic anemia (HSt). Oocyte surface expression of AE1 E758K, in contrast to that of wild-type AE1, required coexpressed glycophorin A (GPA). The mutant polypeptide exhibited, in parallel, strong GPA dependence of DIDS-sensitive (36)Cl(-) influx, trans-anion-dependent (36)Cl(-) efflux, and Cl(-)/HCO(3)(-) exchange activities at near wild-type levels. AE1 E758K expression was also associated with GPA-dependent increases of DIDS-sensitive pH-independent SO(4)(2-) uptake and oxalate uptake with altered pH dependence. In marked contrast, the bumetanide- and ouabain-insensitive (86)Rb(+) influx associated with AE1 E758K expression was largely GPA-independent in Xenopus oocytes and completely GPA-independent in Ambystoma oocytes. AE1 E758K-associated currents in Xenopus oocytes also exhibited little or no GPA dependence. (86)Rb(+) influx was higher but inward cation current was lower in oocytes expressing AE1 E758K than previously reported in oocytes expressing the AE1 HSt mutants S731P and H734R. The pharmacological inhibition profile of AE1 E758K-associated (36)Cl(-) influx differed from that of AE1 E758K-associated (86)Rb(+) influx, as well as from that of wild-type AE1-mediated Cl(-) transport. Thus AE1 E758K-expressing oocytes displayed GPA-dependent surface polypeptide expression and anion transport, accompanied by substantially GPA-independent, pharmacologically distinct Rb(+) flux and by small, GPA-independent currents. The data strongly suggest that most of the increased cation transport associated with the novel HSt mutant AE1 E758K reflects activation of endogenous oocyte cation permeability pathways, rather than cation translocation through the mutant polypeptide.
Barish,
A voltage-gated hydrogen ion current in the oocyte membrane of the axolotl, Ambystoma.
1984, Pubmed
Barish,
A voltage-gated hydrogen ion current in the oocyte membrane of the axolotl, Ambystoma.
1984,
Pubmed Bogdanova,
Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.
2010,
Pubmed
,
Xenbase Bruce,
The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein.
2009,
Pubmed
,
Xenbase Bruce,
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
2005,
Pubmed
,
Xenbase Bruce,
Hereditary stomatocytosis and cation-leaky red cells--recent developments.
2009,
Pubmed Bruce,
A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane.
2003,
Pubmed Carella,
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.
2004,
Pubmed Casula,
A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity.
2001,
Pubmed
,
Xenbase Chernova,
Electrogenic sulfate/chloride exchange in Xenopus oocytes mediated by murine AE1 E699Q.
1997,
Pubmed
,
Xenbase Chernova,
Mouse Ae1 E699Q mediates SO42-i/anion-o exchange with [SO42-]i-dependent reversal of wild-type pHo sensitivity.
2008,
Pubmed
,
Xenbase Chernova,
Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity.
2005,
Pubmed
,
Xenbase Choo,
Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.
2006,
Pubmed Coles,
Temperature effects on cation transport in hereditary stomatocytosis and allied disorders.
1999,
Pubmed Crambert,
Transport and pharmacological properties of nine different human Na, K-ATPase isozymes.
2000,
Pubmed
,
Xenbase Delaunay,
The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations.
2004,
Pubmed Ellory,
Review. Leaky Cl--HCO3- exchangers: cation fluxes via modified AE1.
2009,
Pubmed Fairbanks,
Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane.
1971,
Pubmed Fiévet,
Expression of band 3 anion exchanger induces chloride current and taurine transport: structure-function analysis.
1995,
Pubmed
,
Xenbase Fujinaga,
Topology of the membrane domain of human erythrocyte anion exchange protein, AE1.
1999,
Pubmed Grootenboer,
Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24.
2000,
Pubmed Groves,
The effects of glycophorin A on the expression of the human red cell anion transporter (band 3) in Xenopus oocytes.
1994,
Pubmed
,
Xenbase Groves,
Glycophorin A facilitates the expression of human band 3-mediated anion transport in Xenopus oocytes.
1992,
Pubmed
,
Xenbase Guizouarn,
Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance.
2007,
Pubmed
,
Xenbase Guizouarn,
Multiple transport functions of a red blood cell anion exchanger, tAE1: its role in cell volume regulation.
2001,
Pubmed
,
Xenbase Guizouarn,
Evidence for up-regulation of the endogenous Na-K-2Cl co-transporter by molecular interactions with the anion exchanger tAE1 expressed in Xenopus oocyte.
2004,
Pubmed
,
Xenbase Haines,
Two further British families with the 'cryohydrocytosis' form of hereditary stomatocytosis.
2001,
Pubmed Iolascon,
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis.
2009,
Pubmed
,
Xenbase Jarolim,
Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.
1996,
Pubmed Jennings,
Characterization of oxalate transport by the human erythrocyte band 3 protein.
1996,
Pubmed Laemmli,
Cleavage of structural proteins during the assembly of the head of bacteriophage T4.
1970,
Pubmed Lafaire,
Voltage dependence of the rheogenic Na+/K+ ATPase in the membrane of oocytes of Xenopus laevis.
1986,
Pubmed
,
Xenbase Lux,
Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1).
1989,
Pubmed Marchesi,
Abnormal spectrin in hereditary elliptocytosis.
1986,
Pubmed Martial,
Importance of several cysteine residues for the chloride conductance of trout anion exchanger 1 (tAE1).
2007,
Pubmed
,
Xenbase Martial,
Consequences of point mutations in trout anion exchanger 1 (tAE1) transmembrane domains: evidence that tAE1 can behave as a chloride channel.
2006,
Pubmed
,
Xenbase Nessler,
Evidence for activation of endogenous transporters in Xenopus laevis oocytes expressing the Plasmodium falciparum chloroquine resistance transporter, PfCRT.
2004,
Pubmed
,
Xenbase Page,
Dominant-negative calcium channel suppression by truncated constructs involves a kinase implicated in the unfolded protein response.
2004,
Pubmed
,
Xenbase Parker,
A conductive pathway generated from fragments of the human red cell anion exchanger AE1.
2007,
Pubmed
,
Xenbase Piermarini,
NHE8 is an intracellular cation/H+ exchanger in renal tubules of the yellow fever mosquito Aedes aegypti.
2009,
Pubmed
,
Xenbase Sandoval,
Inhibition of recombinant N-type Ca(V) channels by the gamma 2 subunit involves unfolded protein response (UPR)-dependent and UPR-independent mechanisms.
2007,
Pubmed Schroeder,
Expression cloning of TMEM16A as a calcium-activated chloride channel subunit.
2008,
Pubmed
,
Xenbase Stewart,
Hemolytic disease due to membrane ion channel disorders.
2004,
Pubmed Stewart,
Putative re-entrant loop 1 of AE2 transmembrane domain has a major role in acute regulation of anion exchange by pH.
2009,
Pubmed
,
Xenbase Suchyna,
Identification of a peptide toxin from Grammostola spatulata spider venom that blocks cation-selective stretch-activated channels.
2000,
Pubmed Tanphaichitr,
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.
1998,
Pubmed
,
Xenbase Vandorpe,
Cation channel regulation by COOH-terminal cytoplasmic tail of polycystin-1: mutational and functional analysis.
2002,
Pubmed
,
Xenbase Wagner,
The heterodimeric amino acid transporter 4F2hc/LAT1 is associated in Xenopus oocytes with a non-selective cation channel that is regulated by the serine/threonine kinase sgk-1.
2000,
Pubmed
,
Xenbase Walsh,
Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis.
2008,
Pubmed
,
Xenbase Walsh,
Southeast Asian AE1 associated renal tubular acidosis: cation leak is a class effect.
2009,
Pubmed
,
Xenbase Weber,
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
2008,
Pubmed
,
Xenbase Wiley,
Increased erythrocyte cation permeability in thalassemia and conditions of marrow stress.
1981,
Pubmed
