Anion Exchange Protein 1 (AE1)

CD233; SLC4A1; SLC4-A1; WD; BND3; DI; EMPB3; EPB3; FR; RTA1A; SW; WD1; WR; Solute Carrier Family 4,Anion Exchanger,Member 1; Erythrocyte Membrane Protein Band 3

SPN	V158
HGNC	11027
MGI	109393
PubMed	21455263
RGD	3710
UniProt	P02730
Wiki	CD233

Anion Exchanger 1 is a phylogenetically preserved transport protein responsible for mediating the electroneutral exchange of chloride (Cl-) for bicarbonate (HCO3-) across a plasma membrane.It is ubiquitous throughout the vertebrates. In humans it is present in two specific sites: the erythrocyte (red blood cell) cell membrane and the basolateral surface of the alpha-intercalated cell (the acid secreting cell type) in the collecting duct of the kidney. The erythrocyte and kidney forms are different isoforms of the same protein.AE1 was discovered following SDS-PAGE gel electrophoresis of erythrocyte cell membrane. The large 'third' band on the electrophoresis gel represented AE1, which was thus initially termed 'Band 3'. The chloride-bicarbonate exchanger in the red cell membrane is not a pump, which would use metabolic energy.

Reference

"The complete amino acid sequence of the human erythrocyte membrane anion-transport protein deduced from the cDNA sequence."
Biochem. J. 256:703-712(1988) [PubMed] [Europe PMC] [Abstract]

"Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1)."
Proc. Natl. Acad. Sci. U.S.A. 86:9089-9093(1989) [PubMed] [Europe PMC] [Abstract]

"Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations."
Pediatr. Nephrol. 21:212-217(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Primary structure of the cytoplasmic domain of human erythrocyte protein band 3. Comparison with its sequence in the mouse."
Biochim. Biophys. Acta 998:43-49(1989) [PubMed] [Europe PMC] [Abstract]

"Amino acid sequence of the N alpha-terminal 201 residues of human erythrocyte membrane band 3."
J. Biol. Chem. 258:7981-7990(1983) [PubMed] [Europe PMC] [Abstract]

"Orientation of the band 3 polypeptide from human erythrocyte membranes. Identification of NH2-terminal sequence and site of carbohydrate attachment."
J. Biol. Chem. 253:7242-7248(1978) [PubMed] [Europe PMC] [Abstract]

"Anion exchanger 1 in human kidney and oncocytoma differs from erythroid AE1 in its NH2 terminus."
Am. J. Physiol. 265:F813-F821(1993) [PubMed] [Europe PMC] [Abstract]

"A structural study of the membrane domain of band 3 by tryptic digestion. Conformational change of band 3 in situ induced by alkali treatment."
J. Biol. Chem. 267:19211-19217(1992) [PubMed] [Europe PMC] [Abstract]

"The human erythrocyte anion-transport protein. Partial amino acid sequence, conformation and a possible molecular mechanism for anion exchange."
Biochem. J. 213:577-586(1983) [PubMed] [Europe PMC] [Abstract]

"Anion-proton cotransport through the human red blood cell band 3 protein. Role of glutamate 681."
J. Biol. Chem. 267:13964-13971(1992) [PubMed] [Europe PMC] [Abstract]

"Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11."
Br. J. Haematol. 91:804-810(1995) [PubMed] [Europe PMC] [Abstract]

"Localization of the pyridoxal phosphate binding site at the COOH-terminal region of erythrocyte band 3 protein."
J. Biol. Chem. 263:8232-8238(1988) [PubMed] [Europe PMC] [Abstract]

"Phosphorylation sites in human erythrocyte band 3 protein."
Biochim. Biophys. Acta 1061:253-266(1991) [PubMed] [Europe PMC] [Abstract]

"Palmitoylation of cysteine 69 from the COOH-terminal of band 3 protein in the human erythrocyte membrane. Acylation occurs in the middle of the consensus sequence of F--I-IICLAVL found in band 3 protein and G2 protein of Rift Valley fever virus."
J. Biol. Chem. 266:16420-16424(1991) [PubMed] [Europe PMC] [Abstract]

"The ANK repeats of erythrocyte ankyrin form two distinct but cooperative binding sites for the erythrocyte anion exchanger."
J. Biol. Chem. 270:22050-22057(1995) [PubMed] [Europe PMC] [Abstract]

"Processing of N-linked oligosaccharide depends on its location in the anion exchanger, AE1, membrane glycoprotein."
Biochem. J. 349:51-57(2000) [PubMed] [Europe PMC] [Abstract]

"Sequential phosphorylation of protein band 3 by Syk and Lyn tyrosine kinases in intact human erythrocytes: identification of primary and secondary phosphorylation sites."
Blood 96:1550-1557(2000) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains."
Biochim. Biophys. Acta 1828:956-966(2013) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Two-dimensional structure of the membrane domain of human band 3, the anion transport protein of the erythrocyte membrane."
EMBO J. 12:2233-2239(1993) [PubMed] [Europe PMC] [Abstract]

"Three-dimensional map of the dimeric membrane domain of the human erythrocyte anion exchanger, Band 3."
EMBO J. 13:3230-3235(1994) [PubMed] [Europe PMC] [Abstract]

"The solution structures of the first and second transmembrane-spanning segments of band 3."
Eur. J. Biochem. 221:445-454(1994) [PubMed] [Europe PMC] [Abstract]

"Solution structure of a band 3 peptide inhibitor bound to aldolase: a proposed mechanism for regulating binding by tyrosine phosphorylation."
Biochemistry 34:16574-16584(1995) [PubMed] [Europe PMC] [Abstract]

"Insights into tyrosine phosphorylation control of protein-protein association from the NMR structure of a band 3 peptide inhibitor bound to glyceraldehyde-3-phosphate dehydrogenase."
Biochemistry 37:867-877(1998) [PubMed] [Europe PMC] [Abstract]

"Studies on the structure of a transmembrane region and a cytoplasmic loop of the human red cell anion exchanger."
Biochem. Soc. Trans. 26:516-520(1998) [PubMed] [Europe PMC] [Abstract]

"NMR solution structure of a cytoplasmic surface loop of the human red cell anion transporter, band 3."
Biochemistry 37:11670-11678(1998) [PubMed] [Europe PMC] [Abstract]

"Crystallographic structure and functional interpretation of the cytoplasmic domain of erythrocyte membrane band 3."
Blood 96:2925-2933(2000) [PubMed] [Europe PMC] [Abstract]

"A substrate access tunnel in the cytosolic domain is not an essential feature of the solute carrier 4 (SLC4) family of bicarbonate transporters."
J. Biol. Chem. 288:33848-33860(2013) [PubMed] [Europe PMC] [Abstract]

"Human erythrocyte band 3 polymorphism (band 3 Memphis): characterization of the structural modification (Lys 56-->Glu) by protein chemistry methods."
Blood 78:1117-1120(1991) [PubMed] [Europe PMC] [Abstract]

"Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis."
Proc. Natl. Acad. Sci. U.S.A. 88:11022-11026(1991) [PubMed] [Europe PMC] [Abstract]

"Band 3 Tuscaloosa: Pro-327-->Arg substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2."
Blood 80:523-529(1992) [PubMed] [Europe PMC] [Abstract]

"Basis of unique red cell membrane properties in hereditary ovalocytosis."
J. Mol. Biol. 223:949-958(1992) [PubMed] [Europe PMC] [Abstract]

"Band 3 HT, a human red-cell variant associated with acanthocytosis and increased anion transport, carries the mutation Pro-868-->Leu in the membrane domain of band 3."
Biochem. J. 293:317-320(1993) [PubMed] [Europe PMC] [Abstract]

"Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40 glutamic acid-->lysine substitution in the cytoplasmic domain of band 3 (band 3Montefiore)."
Blood 81:2155-2165(1993) [PubMed] [Europe PMC] [Abstract]

"Band 3 Memphis variant II. Altered stilbene disulfonate binding and the Diego (Dia) blood group antigen are associated with the human erythrocyte band 3 mutation Pro-854-->Leu."
J. Biol. Chem. 269:16155-16158(1994) [PubMed] [Europe PMC] [Abstract]

"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 85:541-547(1995) [PubMed] [Europe PMC] [Abstract]

"Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis."
Blood 85:634-640(1995) [PubMed] [Europe PMC] [Abstract]

"Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency."
Blood 88:4366-4374(1996) [PubMed] [Europe PMC] [Abstract]

"Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis."
Nat. Genet. 13:214-218(1996) [PubMed] [Europe PMC] [Abstract]

"Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis."
Blood 90:414-420(1997) [PubMed] [Europe PMC] [Abstract]

"Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus."
Br. J. Haematol. 96:70-76(1997) [PubMed] [Europe PMC] [Abstract]

"Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects."
Br. J. Haematol. 98:32-40(1997) [PubMed] [Europe PMC] [Abstract]

Erratum
Br. J. Haematol. 99:474-474(1997)

"Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene."
J. Clin. Invest. 100:1693-1707(1997) [PubMed] [Europe PMC] [Abstract]

"Blood group antigens Rb(a), Tr(a), and Wd(a) are located in the third ectoplasmic loop of erythroid band 3."
Transfusion 37:607-615(1997) [PubMed] [Europe PMC] [Abstract]

"Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis."
Acta Haematol. 100:200-203(1998) [PubMed] [Europe PMC] [Abstract]

"Characterization of seven low incidence blood group antigens carried by erythrocyte band 3 protein."
Blood 92:4836-4843(1998) [PubMed] [Europe PMC] [Abstract]

"Novel AE1 mutations in recessive distal renal tubular acidosis: loss-of-function is rescued by glycophorin A."
J. Clin. Invest. 102:2173-2179(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis."
Proc. Natl. Acad. Sci. U.S.A. 95:6337-6342(1998) [PubMed] [Europe PMC] [Abstract]

"A Gly565-->Ala substitution in human erythroid band 3 accounts for the Wu blood group polymorphism."
Transfusion 38:745-748(1998) [PubMed] [Europe PMC] [Abstract]

"Arginine 490 is a hot spot for mutation in the band 3 gene in hereditary spherocytosis."
Eur. J. Haematol. 63:360-361(1999) [PubMed] [Europe PMC] [Abstract]

"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. 350:41-51(2000) [PubMed] [Europe PMC] [Abstract]

"Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3."
Blood 96:1602-1604(2000) [PubMed] [Europe PMC] [Abstract]

"Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population."
Int. J. Hematol. 71:118-135(2000) [PubMed] [Europe PMC] [Abstract]

"Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger."
Traffic 1:987-998(2000) [PubMed] [Europe PMC] [Abstract]

"Amino acid substitutions in human erythroid protein band 3 account for the low-incidence antigens NFLD and BOW."
Transfusion 40:325-329(2000) [PubMed] [Europe PMC] [Abstract]

"An amino acid substitution in the putative second extracellular loop of RBC band 3 accounts for the Froese blood group polymorphism."
Transfusion 40:1246-1249(2000) [PubMed] [Europe PMC] [Abstract]

"Distinctive Swann blood group genotypes: molecular investigations."
Vox Sang. 79:215-218(2000) [PubMed] [Europe PMC] [Abstract]

"Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III."
Br. J. Haematol. 113:689-693(2001) [PubMed] [Europe PMC] [Abstract]

"Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis."
Am. J. Kidney Dis. 44:64-70(2004) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells."
J. Biol. Chem. 279:13833-13838(2004) [PubMed] [Europe PMC] [Abstract]

"Band 3Tambau: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane."
Eur. J. Haematol. 74:396-401(2005) [PubMed] [Europe PMC] [Abstract]

"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."
Nat. Genet. 37:1258-1263(2005) [PubMed] [Europe PMC] [Abstract]

"Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis."
Mol. Membr. Biol. 27:92-103(2010) [PubMed] [Europe PMC] [Abstract]