Genomes and Genes
erythrocyte anion exchange protein 1
Summary: A major integral transmembrane protein of the ERYTHROCYTE MEMBRANE. It is the anion exchanger responsible for electroneutral transporting in CHLORIDE IONS in exchange of BICARBONATE IONS allowing CO2 uptake and transport from tissues to lungs by the red blood cells. Genetic mutations that result in a loss of the protein function have been associated with type 4 HEREDITARY SPHEROCYTOSIS.
- Fu G, Wang T, Yang B, Lv F, Shi C, Jiang X, et al. Purification and characterization of the human erythrocyte band 3 protein C-terminal domain. Biochemistry. 2004;43:1633-8 pubmed..The CAT activity measured in this experiment also indicated that there was interaction between the C-terminal 33 amino acid residues of HEM-B3 and the C-terminus of GPA. ..
- Young M, Tanner M. Distinct regions of human glycophorin A enhance human red cell anion exchanger (band 3; AE1) transport function and surface trafficking. J Biol Chem. 2003;278:32954-61 pubmed
- Bruce L, Wrong O, Toye A, Young M, Ogle G, Ismail Z, et al. 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. Biochem J. 2000;350 Pt 1:41-51 pubmed
- Ribeiro M, Alloisio N, Almeida H, Gomes C, Texier P, Lemos C, et al. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood. 2000;96:1602-4 pubmed..The long-term prognosis remains uncertain given the potential for hematologic and renal complications. (Blood. 2000;96:1602-1604)..
- Alper S, Darman R, Chernova M, Dahl N. The AE gene family of Cl/HCO3- exchangers. J Nephrol. 2002;15 Suppl 5:S41-53 pubmed..Noncontiguous regions in the middle of the N-terminal cytoplasmic domain are of particular importance for acute regulation by several types of stimulus. ..
- Toye A, Bruce L, Unwin R, Wrong O, Tanner M. Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells. Blood. 2002;99:342-7 pubmed..It is suggested that this results from the association of the normal and mutant proteins in band 3 hetero-oligomers, which causes the intracellular retention of normal band 3 with the mutant protein...
- Bruce L, Ring S, Anstee D, Reid M, Wilkinson S, Tanner M. Changes in the blood group Wright antigens are associated with a mutation at amino acid 658 in human erythrocyte band 3: a site of interaction between band 3 and glycophorin A under certain conditions. Blood. 1995;85:541-7 pubmed
- Kudrycki K, Newman P, Shull G. cDNA cloning and tissue distribution of mRNAs for two proteins that are related to the band 3 Cl-/HCO3- exchanger. J Biol Chem. 1990;265:462-71 pubmed..Band 3 mRNAs were observed in many tissues but high levels of expression occurred only in spleen and kidney. Five Band 3 transcripts, ranging in size from 3.6 to 4.9 kilobases, were detected, including three that are expressed in heart. ..
- Schofield A, Martin P, Spillett D, Tanner M. The structure of the human red blood cell anion exchanger (EPB3, AE1, band 3) gene. Blood. 1994;84:2000-12 pubmed..The translation initiator downstream to the human kidney promoter would give rise to a protein with a 20 amino acid section at the N-terminus that is not present in the erythroid human AE1 protein or the rodent kidney AE1 proteins. ..
- Peters L, Shivdasani R, Liu S, Hanspal M, John K, Gonzalez J, et al. Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell. 1996;86:917-27 pubmed..We postulate that stabilization is achieved through AE1-lipid interactions and that loss of these interactions is a key pathogenic event in hereditary spherocytosis. ..
- Bruce L, Cope D, Jones G, Schofield A, Burley M, Povey S, et al. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest. 1997;100:1693-707 pubmed..We conclude that dominantly inherited dRTA is associated with mutations in band 3; but both the disease and its autosomal dominant inheritance are not related simply to the anion transport activity of the mutant proteins. ..
- Tanphaichitr V, Sumboonnanonda A, Ideguchi H, Shayakul C, Brugnara C, Takao M, et al. Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. J Clin Invest. 1998;102:2173-9 pubmed..The genetic and functional data both suggest that the homozygous AE1 G701D mutation causes recessively transmitted dRTA in this kindred with apparently normal erythroid anion transport...
- Southgate C, Chishti A, Mitchell B, Yi S, Palek J. Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. Nat Genet. 1996;14:227-30 pubmed
- Jennings M, Whitlock J, Shinde A. Pre-steady state transport by erythrocyte band 3 protein: uphill countertransport induced by the impermeant inhibitor H2DIDS. Biochem Cell Biol. 1998;76:807-13 pubmed..These results are completely consistent with a ping-pong mechanism of anion exchange in which the catalytic cycle consists of one pair of exchanging anions per subunit of the band 3 dimer. ..
- Cartron J, Colin Y. Structural and functional diversity of blood group antigens. Transfus Clin Biol. 2001;8:163-99 pubmed..The purpose of this review is to summarize recent findings on these molecules, and in particular to illustrate the existing structure-function relationships. ..
- Poole J. Red cell antigens on band 3 and glycophorin A. Blood Rev. 2000;14:31-43 pubmed..This is in contrast to the antigens on band 3 which are exclusively due to single nucleotide mutations in the band 3 gene. ..
- Kikugawa K. [Defense of living body against oxidative damage]. Yakugaku Zasshi. 2004;124:653-66 pubmed..Oxidized protein hydrolase that preferentially hydrolyzes proteins damaged by oxidative stress was newly discovered, which may play an important role in saving cells from oxidative damage. ..
- Bonar P, Casey J. Purification of functional human Cl(-)/HCO(3)(-) exchanger, AE1, over-expressed in Saccharomyces cerevisiae. Protein Expr Purif. 2010;74:106-15 pubmed publisher..Using this purification strategy, sufficient amounts of functional, homogeneous AE1MD-Rho can be purified to enable crystallization trials. ..
- Ficarra S, Tellone E, Giardina B, Scatena R, Russo A, Misiti F, et al. Derangement of erythrocytic AE1 in beta-thalassemia by caspase 3: pathogenic mechanisms and implications in red blood cell senescence. J Membr Biol. 2009;228:43-9 pubmed publisher..These findings led us to formulate a hypothesis about the metabolic characteristics of beta-thalassemic erythrocytes, outlining that one of the main targets of caspase 3 in RBCs is the cytoplasmic domain of band 3 protein. ..
- Kustu S, Inwood W. Biological gas channels for NH3 and CO2: evidence that Rh (Rhesus) proteins are CO2 channels. Transfus Clin Biol. 2006;13:103-10 pubmed
- Zhou Z, DeSensi S, Stein R, Brandon S, Dixit M, McArdle E, et al. Solution structure of the cytoplasmic domain of erythrocyte membrane band 3 determined by site-directed spin labeling. Biochemistry. 2005;44:15115-28 pubmed..These results establish a structural model for cdb3 in solution at neutral pH which represents an important next step in characterizing structural details of the protein-protein interactions that stabilize the erythrocyte membrane. ..
- Muller D, Kuiper H, Boneker C, Mömke S, Drogemuller C, Chowdhary B, et al. Assignment of BGLAP, BMP2, CHST4, SLC1A3, SLC4A1, SLC9A5 and SLC20A1 to equine chromosomes by FISH and confirmation by RH mapping. Anim Genet. 2005;36:457-61 pubmed
- Matarrese P, Straface E, Pietraforte D, Gambardella L, Vona R, Maccaglia A, et al. Peroxynitrite induces senescence and apoptosis of red blood cells through the activation of aspartyl and cysteinyl proteases. FASEB J. 2005;19:416-8 pubmed
- Nonoguchi H, Tomita K. [Renal tubular acidosis]. Nihon Naika Gakkai Zasshi. 2003;92:826-31 pubmed
- Sritippayawan S, Kirdpon S, Vasuvattakul S, Wasanawatana S, Susaengrat W, Waiyawuth W, et al. A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis. Pediatr Nephrol. 2003;18:644-8 pubmed..The mechanism of recurrent mutations probably involves methylation and deamination altering cytosine (C) to thymine (T) in the CpG dinucleotides. ..
- Williams T, Weatherall D, Newbold C. The membrane characteristics of Plasmodium falciparum-infected and -uninfected heterozygous alpha(0)thalassaemic erythrocytes. Br J Haematol. 2002;118:663-70 pubmed..We hypothesize that altered red-cell membrane band 3 protein may be a target for enhanced antibody binding to alpha-thalassaemic IRBCs and could be involved in the mechanism of malaria protection. ..
- Watanabe T. [Analysis of the growth system of Candida albicans in a host and the development of new antifungal material]. Yakugaku Zasshi. 2003;123:561-7 pubmed..A new platinum derivative of the form H[Pt(IV) (Hdigly)Cl2(OH)2] (Hdigly = glycylglycine) has candidacidal activity 10-fold lower than that of cisplatin. ..
- Dahl K, Parthasarathy R, Westhoff C, Layton D, Discher D. Protein 4.2 is critical to CD47-membrane skeleton attachment in human red cells. Blood. 2004;103:1131-6 pubmed..2 strongly influences CD47 levels as well as the extent of membrane skeleton attachment in the RBC, whereas protein 4.2 affects membrane skeletal attachment of RhAG, Rh, and band 3 to a lesser extent. ..
- Sakaguchi M. [Topogenesis of membrane proteins: ER system and escape from ER targeting]. Seikagaku. 2003;75:520-8 pubmed
- Musch M, Koomoa D, Goldstein L. Hypotonicity-induced exocytosis of the skate anion exchanger skAE1: role of lipid raft regions. J Biol Chem. 2004;279:39447-53 pubmed..This skAE1 associates to form oligomers that could be involved in the solute efflux that occurs upon volume expansion. ..
- Weber R. Lacking deoxygenation-linked interaction between cytoplasmic domain of band 3 and HbF from fetal red blood cells. Acta Physiol (Oxf). 2007;191:247-52 pubmed..In conjunction with the previously discovered O2 dependence of K+ transport in HbF-rich fetal cells, they moreover argue against linkage between different, physiologically relevant, O2-dependent red cell functions. ..
- Guizouarn H, Martial S, Gabillat N, Borgese F. Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance. Blood. 2007;110:2158-65 pubmed..These data shed new light on transport mechanisms showing the tiny difference, in terms of primary sequence, between an electroneutral exchange and a conductive pathway. ..
- Barker R, Shen C, Elson C. T-cell specificity in murine autoimmune haemolytic anaemia induced by rat red blood cells. Clin Exp Immunol. 2002;129:208-13 pubmed..It is suggested that T-cells activated by multiple cross-reactions between rat and murine RBC proteins, and by epitope spreading, are necessary to drive autoantibody production in this model of AIHA. ..
- Trannoy L, Brand A, Lagerberg J. Relation between K+ leakage and damage to band 3 in photodynamically treated red cells. Photochem Photobiol. 2002;75:167-71 pubmed..Glucose transport was not affected by DMMB-mediated PDT. The present results are the first to show a causal relationship between DMMB-mediated photodamage to band 3 and increased cation permeability of red blood cells. ..
- Chu C, Woods N, Sawasdee N, Guizouarn H, Pellissier B, Borgese F, et al. Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. Biochem J. 2010;426:379-88 pubmed publisher..We conclude that the C479W mutant is a novel trafficking mutant of AE1, which causes HS due to a decreased cell-surface AE1 protein and results in dRTA due to its intracellular retention in kidney. ..
- Pang A, Reithmeier R. Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells. Biochem J. 2009;421:345-56 pubmed publisher..The results indicate that AE1 and GPA form a complex in the ER of human K562 cells, but that both proteins can also traffic to the cell surface independently of each other. ..
- Quilty J, Li J, Reithmeier R. Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1. Am J Physiol Renal Physiol. 2002;282:F810-20 pubmed..The R589H dRTA mutation creates a severe trafficking defect in kAE1 but not in erythroid AE1. ..
- Zdebska E, Gołaszewska E, Fabijańska Mitek J, Schachter H, Shalev H, Tamary H, et al. Glycoconjugate abnormalities in patients with congenital dyserythropoietic anaemia type I, II and III. Br J Haematol. 2001;114:907-13 pubmed..Thus, glycoconjugate abnormalities of varying intensity occur in erythrocyte membranes from all patients with CDA that were investigated. ..
- Dahl K, Westhoff C, Discher D. Fractional attachment of CD47 (IAP) to the erythrocyte cytoskeleton and visual colocalization with Rh protein complexes. Blood. 2003;101:1194-9 pubmed..The results imply a homogeneous base distribution of CD47, restrained by cytoskeleton linkages, plus a smaller fraction of CD47, which is able to diffuse in the membrane. ..
- Dzik S. Nitric oxide: nature's third respiratory gas. Transfusion. 2002;42:1532-3 pubmed
- Salhany J, Sloan R, Cordes K. The carboxyl side chain of glutamate 681 interacts with a chloride binding modifier site that allosterically modulates the dimeric conformational state of band 3 (AE1). Implications for the mechanism of anion/proton cotransport. Biochemistry. 2003;42:1589-602 pubmed
- Musch M, Goldstein L. Tyrosine kinase inhibition affects skate anion exchanger isoform I alterations after volume expansion. Am J Physiol Regul Integr Comp Physiol. 2005;288:R885-90 pubmed..These results suggest that at least one event requiring p72(syk) activation is pivotal for hyposmotic-induced increased transport; however, steps that do not require tyrosine phosphorylation may also play a role. ..
- Nozawa A, Miwa K, Kobayashi M, Fujiwara T. Isolation of Arabidopsis thaliana cDNAs that confer yeast boric acid tolerance. Biosci Biotechnol Biochem. 2006;70:1724-30 pubmed..Two yeast genes, ScRPS20 and ScHRB1, that are similar to the isolated clones, were necessary for this boric acid tolerance. The possible roles of these A. thaliana and S. cerevisiae genes in boric acid tolerance are discussed. ..
- Reinhardt D, Witt O, Miosge N, Herken R, Pekrun A. Increase in band 3 density and aggregation in hereditary spherocytosis. Blood Cells Mol Dis. 2001;27:399-406 pubmed..Band 3 aggregation characterizes the red cells in hereditary spherocytosis. It may be the cause of selective splenic phagocytosis of both spherocytes and senescent erythrocytes. ..
- Adair Kirk T, Dorsey F, Cox J. Multiple cytoplasmic signals direct the intracellular trafficking of chicken kidney AE1 anion exchangers in MDCK cells. J Cell Sci. 2003;116:655-63 pubmed
- Carvalho F, de Almeida J, Freitas Santos T, Saldanha C. Modulation of erythrocyte acetylcholinesterase activity and its association with G protein-band 3 interactions. J Membr Biol. 2009;228:89-97 pubmed publisher..We conclude that an erythrocyte G protein with subunits Galpha(i1/2) and G(beta) is associated with band 3. AChE depends on the degree of band 3 phosphorylation and its association with Galpha(i1/2) and G(beta). ..
- van den Akker E, Satchwell T, Williamson R, Toye A. Band 3 multiprotein complexes in the red cell membrane; of mice and men. Blood Cells Mol Dis. 2010;45:1-8 pubmed publisher..This review will explore what is known about the band 3 complexes of mice and humans, focussing on the observed species differences and their potential functional consequences. ..
- Yenchitsomanus P. Human anion exchanger1 mutations and distal renal tubular acidosis. Southeast Asian J Trop Med Public Health. 2003;34:651-8 pubmed
- Denecke J, Kranz C, Nimtz M, Conradt H, Brune T, Heimpel H, et al. Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS). Glycoconj J. 2008;25:375-82 pubmed publisher..However, structural data of erythrocyte N-glycans implicate that CDA II is not a distinct glycosylation disorder but caused by a defect disturbing Golgi processing in erythroblasts. ..
- Sun X, Soleimani M, Petrovic S. Decreased expression of Slc26a4 (Pendrin) and Slc26a7 in the kidneys of carbonic anhydrase II-deficient mice. Cell Physiol Biochem. 2008;21:95-108 pubmed publisher..These results emphasize the critical role of CAII for the maintenance of the intercalated cell phenotype. ..
- Bosman G, Lasonder E, Luten M, Roerdinkholder Stoelwinder B, Novotný V, Bos H, et al. The proteome of red cell membranes and vesicles during storage in blood bank conditions. Transfusion. 2008;48:827-35 pubmed publisher..To be able to identify the mechanisms underlying these storage lesions, a proteomic analysis of the membranes of RBCs and their vesicles was performed during various periods of storage in blood bank conditions...
- Kuma H, Abe Y, Askin D, Bruce L, Hamasaki T, Tanner M, et al. Molecular basis and functional consequences of the dominant effects of the mutant band 3 on the structure of normal band 3 in Southeast Asian ovalocytosis. Biochemistry. 2002;41:3311-20 pubmed..Our approach provides a sensitive method for studying structural changes in polytopic membrane proteins. ..