AE1

Summary

Gene Symbol: AE1
Description: solute carrier family 4 member 1 (Diego blood group)
Alias: AE1, BND3, CD233, CHC, EMPB3, EPB3, RTA1A, SAO, SPH4, WD1, band 3 anion transport protein, Diego blood group, Froese blood group, Swann blood group, Waldner blood group, Wright blood group, anion exchange protein 1, anion exchanger-1, erythrocyte membrane protein band 3, erythroid anion exchange protein, solute carrier family 4 (anion exchanger), member 1 (Diego blood group), solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group), solute carrier family 4, anion exchanger, number 1
Species: human
Products:     AE1

Top Publications

  1. Pantaleo A, Ferru E, Giribaldi G, Mannu F, Carta F, Matte A, et al. Oxidized and poorly glycosylated band 3 is selectively phosphorylated by Syk kinase to form large membrane clusters in normal and G6PD-deficient red blood cells. Biochem J. 2009;418:359-67 pubmed publisher
    Oxidative events involving band 3 (Anion Exchanger 1) have been associated with RBC (red blood cell) removal through binding of NAbs (naturally occurring antibodies); however, the underlying mechanism has been only partially ..
  2. 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
    We describe three mutations of the red-cell anion exchangerband 3 (AE1, SLC4A1) gene associated with distalrenal tubular acidosis (dRTA) in families from Malaysia and Papua NewGuinea: Gly(701)-->Asp (G701D), Ala(858)-->Asp(A858D) ..
  3. Keskanokwong T, Shandro H, Johnson D, Kittanakom S, Vilas G, Thorner P, et al. Interaction of integrin-linked kinase with the kidney chloride/bicarbonate exchanger, kAE1. J Biol Chem. 2007;282:23205-18 pubmed
    Kidney anion exchanger 1 (kAE1) mediates chloride/bicarbonate exchange at the basolateral membrane of kidney alpha-intercalated cells, thereby facilitating bicarbonate reabsorption into the blood...
  4. Ungsupravate D, Sawasdee N, Khositseth S, Udomchaiprasertkul W, Khoprasert S, Li J, et al. Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis. Mol Membr Biol. 2010;27:92-103 pubmed publisher
    ..To examine the interaction, trafficking, and cellular localization of the wild-type and two mutant kidney AE1 (kAE1) proteins, we expressed the proteins alone or together in human embryonic kidney (HEK) 293T and Madin-Darby ..
  5. Sawasdee N, Junking M, Ngaojanlar P, Sukomon N, Ungsupravate D, Limjindaporn T, et al. Human kidney anion exchanger 1 interacts with adaptor-related protein complex 1 ?1A (AP-1 mu1A). Biochem Biophys Res Commun. 2010;401:85-91 pubmed publisher
    Kidney anion exchanger 1 (kAE1) mediates chloride (Cl?) and bicarbonate (HCO??) exchange at the basolateral membrane of kidney ?-intercalated cells...
  6. Alloisio N, Texier P, Vallier A, Ribeiro M, Morle L, Bozon M, et al. Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. Blood. 1997;90:414-20 pubmed
    We present two novel alleles of the anion-exchanger 1 (AE1) gene, allele Coimbra and allele Mondego. Allele Coimbra (V488M, GTG --> ATG) affects a conserved position in the putative second ectoplasmic loop of erythrocyte band 3...
  7. Karet F, Gainza F, Gyory A, Unwin R, Wrong O, Tanner M, et al. 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. 1998;95:6337-42 pubmed
    ..Mutations in the chloride-bicarbonate exchanger AE1 have recently been reported in four autosomal dominant dRTA kindreds, three of these altering codon Arg589...
  8. 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)..
  9. 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 effect of the R589H dRTA mutation on the expression of the human erythroid AE1 and the truncated kidney form (kAE1) was examined in transfected human embryonic kidney 293 cells...

More Information

Publications108 found, 100 shown here

  1. Kittanakom S, Cordat E, Akkarapatumwong V, Yenchitsomanus P, Reithmeier R. Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1). J Biol Chem. 2004;279:40960-71 pubmed
    Autosomal dominant and recessive distal renal tubular acidosis (dRTA) can be caused by mutations in the anion exchanger 1 (AE1 or SLC4A1) gene, which encodes the erythroid chloride/bicarbonate anion exchanger membrane glycoprotein (eAE1) ..
  2. Chang Y, Shaw C, Jian S, Hsieh K, Chiou Y, Lu P. Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis. Kidney Int. 2009;76:774-83 pubmed publisher
    Missense, nonsense, and frameshift mutations in the human anion exchanger 1 have been associated with inherited distal renal tubular acidosis and hereditary spherocytosis...
  3. Patterson S, Reithmeier R. Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions. J Biol Chem. 2010;285:33423-34 pubmed publisher
    Mutations in the human kidney anion exchanger 1 (kAE1) membrane glycoprotein cause impaired urine acidification resulting in distal renal tubular acidosis (dRTA)...
  4. Shao L, Xu Y, Dong Q, Lang Y, Yue S, Miao Z. A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype. Endocrine. 2010;37:473-8 pubmed publisher
    Mutations in SLC4A1, encoding the chloride-bicarbonate exchanger AE1, cause distal renal tubular acidosis (dRTA), a disease of defective urinary acidification by the distal nephron...
  5. Fry A, Su Y, Yiu V, Cuthbert A, Trachtman H, Karet Frankl F. Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA. J Am Soc Nephrol. 2012;23:1238-49 pubmed publisher
    Mutations in SLC4A1 that mislocalize its product, the chloride/bicarbonate exchanger AE1, away from its normal position on the basolateral membrane of the ?-intercalated cell cause autosomal dominant distal renal tubular acidosis (dRTA)...
  6. Vince J, Reithmeier R. Carbonic anhydrase II binds to the carboxyl terminus of human band 3, the erythrocyte C1-/HCO3- exchanger. J Biol Chem. 1998;273:28430-7 pubmed
    ..This work indicates that CAII, the bicarbonate supplier, is directly coupled to band 3, the chloride/bicarbonate exchanger in red blood cells. ..
  7. Brunati A, Bordin L, Clari G, James P, Quadroni M, Baritono E, et al. Sequential phosphorylation of protein band 3 by Syk and Lyn tyrosine kinases in intact human erythrocytes: identification of primary and secondary phosphorylation sites. Blood. 2000;96:1550-7 pubmed
    ..It has also been demonstrated by means of mass spectrometry that the primary phosphorylation of band 3 occurs at Y8 and Y21, while the secondary phosphorylation affects Y359 and Y904. (Blood. 2000;96:1550-1557) ..
  8. Bordin L, Brunati A, Donella Deana A, Baggio B, Toninello A, Clari G. Band 3 is an anchor protein and a target for SHP-2 tyrosine phosphatase in human erythrocytes. Blood. 2002;100:276-82 pubmed
    ..These results indicate that in treated erythrocytes, recruitment of cytosolic SHP-2 to band 3 is a prerequisite for the subsequent dephosphorylation of the transmembrane protein. ..
  9. Bruce L, Beckmann R, Ribeiro M, Peters L, Chasis J, Delaunay J, et al. A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane. Blood. 2003;101:4180-8 pubmed
    We have studied the membrane proteins of band 3 anion exchanger (AE1)-deficient mouse and human red blood cells. It has been shown previously that proteins of the band 3 complex are reduced or absent in these cells...
  10. Winograd E, Prudhomme J, Sherman I. Band 3 clustering promotes the exposure of neoantigens in Plasmodium falciparum-infected erythrocytes. Mol Biochem Parasitol. 2005;142:98-105 pubmed
    ..of the infected erythrocyte originate from parasite-encoded proteins and by modification of the erythrocyte membrane protein band 3. Here, we show that anti-peptide antibodies generated against an amino acid sequence (..
  11. Cordat E, Kittanakom S, Yenchitsomanus P, Li J, Du K, Lukacs G, et al. Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells. Traffic. 2006;7:117-28 pubmed
    ..Therefore, compound heterozygous patients expressing both recessive mutants (G701D/S773P) likely developed dRTA due to the lack of a functional kAE1 at the basolateral surface of alpha-intercalated cells. ..
  12. Korsgren C, Peters L, Lux S. Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid alpha-spectrin in a calcium- and calmodulin-dependent manner. J Biol Chem. 2010;285:4757-70 pubmed publisher
  13. Wu F, Saleem M, Kampik N, Satchwell T, Williamson R, Blattner S, et al. Anion exchanger 1 interacts with nephrin in podocytes. J Am Soc Nephrol. 2010;21:1456-67 pubmed publisher
    ..Here, we report that nephrin interacts with the bicarbonate/chloride transporter kidney anion exchanger 1 (kAE1), detected by yeast two-hybrid assay and confirmed by immunoprecipitation and co-localization studies...
  14. 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
    ..renal tubular acidosis (dRTA) were heterozygous for mutations in their red cell HCO3-/Cl- exchanger, band 3 (AE1, SLC4A1) genes, and these mutations were not found in any of the nine normal family members studied...
  15. Almukadi H, Schwake C, Kaiser M, Mayer G, Schiemer J, Baldwin M, et al. Human erythrocyte band 3 is a host receptor for Plasmodium falciparum glutamic acid-rich protein. Blood. 2018;: pubmed publisher
    ..protein (PfGARP) as a secreted ligand that recognizes an ectodomain of human erythrocyte anion-exchanger, Band 3/AE1, as a host receptor...
  16. Senhaji N, Elkhalfi B, Soukri A. [Contribution to the study of glyceraldehyde-3-phosphate dehydrogenase in patients with type 2 diabetes]. Pathol Biol (Paris). 2015;63:74-9 pubmed publisher
    ..Our results suggest that, in 60 % of our patients with type 2 diabetes, a reversible inhibition of GAPDH is observed. This inhibition is probably mediated by the ionic interaction with the erythrocyte membrane protein, band 3. ..
  17. Markovich D. Physiological roles and regulation of mammalian sulfate transporters. Physiol Rev. 2001;81:1499-533 pubmed
    ..sulfate transporter DRA that is linked to congenital chloride diarrhea, and the erythrocyte anion exchanger AE1. These transporters have only been isolated in the last 10-15 years, and their physiological roles and ..
  18. Park J, Jeong D, Yoo J, Jang W, Chae H, Kim J, et al. Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. Clin Genet. 2016;90:69-78 pubmed publisher
    ..The study clarifies ANK1 or SPTB mutational characteristics in HS Korean patients. The genetic association of laboratory and clinical aspects suggests comprehensive considerations for genetic-based management of HS. ..
  19. Nagara M, Papagregoriou G, Ben Abdallah R, Landoulsi Z, Bouyacoub Y, Elouej S, et al. Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. Eur J Med Genet. 2018;61:1-7 pubmed publisher
    ..Mutations in gene AE1 encoding the Cl-/HCO3- exchanger, usually present as dominant dRTA, but a recessive pattern has been recently ..
  20. Merkulova M, Paunescu T, Nair A, Wang C, Capen D, Oliver P, et al. Targeted deletion of the Ncoa7 gene results in incomplete distal renal tubular acidosis in mice. Am J Physiol Renal Physiol. 2018;315:F173-F185 pubmed publisher
    ..At the molecular level, the abundance of several V-ATPase subunits, carbonic anhydrase 2, and the anion exchanger 1 was significantly reduced in medullary ICs of Ncoa7 KO mice, suggesting that Ncoa7 is important for ..
  21. Mohebbi N, Vargas Poussou R, Hegemann S, Schuknecht B, Kistler A, Wuthrich R, et al. Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clin Genet. 2013;83:274-8 pubmed publisher
    ..To our knowledge, this is the first case in the literature describing homozygosity in the same dRTA gene on both alleles. ..
  22. Gong J, He X, Zou R, Chen K, You Y, Zou H, et al. [Clinical characteristics and genetic analysis of hereditary spherocytosis caused by mutations of ANK1 and SPTB genes]. Zhongguo Dang Dai Er Ke Za Zhi. 2019;21:370-374 pubmed
    ..Most children with HS do not have the typical spherocytic changes. Genetic detection may help with the accurate diagnosis of HS. ..
  23. Fortofoiu M, Popescu D, Pădureanu V, Dobrinescu A, Dobrinescu A, Mită A, et al. Difficulty in positive diagnosis of ascites and in differential diagnosis of a pulmonary tumor. Rom J Morphol Embryol. 2017;58:1057-1064 pubmed
    ..LSAB)-Horseradish peroxidase (HRP) method, as well as the antibodies: cytokeratin (CK) cocktail (AE1÷AE3), vimentin, calretinin, CK7, CK5÷6, CK20, epithelial specific antigen/epithelial cell adhesion molecule (Ep-..
  24. Gallagher P. Disorders of erythrocyte hydration. Blood. 2017;: pubmed publisher
    ..These mechanisms will serve as a paradigm for other cells and may reveal new therapeutic targets for disease prevention and treatment beyond the erythrocyte...
  25. Chen L, Higgins P, Zhang W. Development and Diseases of the Collecting Duct System. Results Probl Cell Differ. 2017;60:165-203 pubmed publisher
    ..Mutations in either AE1 or V-ATPase B1 result in distal renal tubular acidosis...
  26. Wang X, Yi B, Mu K, Shen N, Zhu Y, Hu Q, et al. Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS. Oncotarget. 2017;8:96791-96797 pubmed publisher
    ..This is the first report of ANK1 c.4276C>T (p.R1426*) heterozygous nonsense mutation responsible for HS. Our results also demonstrate that targeted NGS may provide a powerful approach for rapid genetic test of HS...
  27. Aggarwal A, Jamwal M, Viswanathan G, Sharma P, Sachdeva M, Bansal D, et al. Optimal Reference Gene Selection for Expression Studies in Human Reticulocytes. J Mol Diagn. 2018;20:326-333 pubmed publisher
    ..Hence, MPP1 and GAPDH are good reference genes for reticulocyte expression studies compared with ACTB and RN18S1, the two most commonly used reference genes. ..
  28. Heras Benito M, Garcia Gonzalez M, Valdenebro Recio M, Molina Ordás Ã, Callejas Martínez R, Rodríguez Gómez M, et al. The need for genetic study to diagnose some cases of distal renal tubular acidosis. Nefrologia. 2016;36:552-555 pubmed publisher
  29. Walsh S, Turner C, Toye A, Wagner C, Jaeger P, Laing C, et al. Immunohistochemical comparison of a case of inherited distal renal tubular acidosis (with a unique AE1 mutation) with an acquired case secondary to autoimmune disease. Nephrol Dial Transplant. 2007;22:807-12 pubmed
  30. Pang A, Bustos S, Reithmeier R. Structural characterization of the cytosolic domain of kidney chloride/bicarbonate anion exchanger 1 (kAE1). Biochemistry. 2008;47:4510-7 pubmed publisher
    Kidney anion exchanger 1 (kAE1) is a membrane glycoprotein expressed in alpha-intercalated cells in the collecting ducts of the kidney where it mediates electroneutral chloride/bicarbonate exchange...
  31. Wincewicz A, Kowalik A, Zięba S, Lewitowicz P, Góźdź S, Sulkowski S. α-Fetoprotein-Producing Hepatoid Gastric Adenocarcinoma With Osteoclast-Like Giant Cells and Neuroendocrine Differentiation: A Case Study With Molecular Profiling. Int J Surg Pathol. 2015;23:537-41 pubmed publisher
    ..chromogranin A dispersedly and moderately positive, and strongly α-fetoprotein-positive with evident CK AE1/AE3 immunoreactivity, while OGCs expressed CD68...
  32. Purkerson J, Schwaderer A, Nakamori A, Schwartz G. Distinct α-intercalated cell morphology and its modification by acidosis define regions of the collecting duct. Am J Physiol Renal Physiol. 2015;309:F464-73 pubmed publisher
    ..4 ± 1.11 and to 32.0 ± 1.3 cells/200 μm, respectively. In the CCD, the basolateral structure defined by AE1 typically exhibited a pyramidal or conical shape, whereas in the medulla the morphology was elongated and shallow, ..
  33. Drickamer L. Orientation of the band 3 polypeptide from human erythrocyte membranes. Identification of NH2-terminal sequence and site of carbohydrate attachment. J Biol Chem. 1978;253:7242-8 pubmed
    ..The carbohydrate structure appears to be extremely heterogeneous both in size and composition, which probably causes the Band 3 polypeptide to migrate as a diffuse band on dodecyl sulfate gel electrophoresis. ..
  34. Dahl N, Jiang L, Chernova M, Stuart Tilley A, Shmukler B, Alper S. Deficient HCO3- transport in an AE1 mutant with normal Cl- transport can be rescued by carbonic anhydrase II presented on an adjacent AE1 protomer. J Biol Chem. 2003;278:44949-58 pubmed
    Cl-/HCO3- exchange activity mediated by the AE1 anion exchanger is reduced by carbonic anhydrase II (CA2) inhibition or by prevention of CA2 binding to the AE1 C-terminal cytoplasmic tail...
  35. Stewart A, Vandorpe D, Heneghan J, Chebib F, Stolpe K, Akhavein A, et al. The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes. Am J Physiol Cell Physiol. 2010;298:C283-97 pubmed publisher
    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)...
  36. Pantaleo A, Ferru E, Carta F, Mannu F, Simula L, Khadjavi A, et al. Irreversible AE1 tyrosine phosphorylation leads to membrane vesiculation in G6PD deficient red cells. PLoS ONE. 2011;6:e15847 pubmed publisher
    ..25 mM) or divicine (0.5 mM) causes: (1) an increase in the oxidation and tyrosine phosphorylation of AE1; (2) progressive recruitment of phosphorylated AE1 in large membrane complexes which also contain hemichromes; (3) ..
  37. Elhayek D, Pérez de Nanclares G, Chouchane S, Hamami S, Mlika A, Troudi M, et al. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes. BMC Med Genet. 2013;14:119 pubmed publisher
    ..Among deaf since childhood patients, 75% had the ATP6V1B1 gene c.1155dupC mutation in homozygosis. Based on the results, we propose a new diagnostic strategy to facilitate the genetic testing in North Africans with dRTA and SNHL. ..
  38. Kehr E, Masry P, Lis R, Loda M, Taplin M, Hirsch M. Detecting metastatic prostate carcinoma in pelvic lymph nodes following neoadjuvant hormone therapy: the eyes have it!. Histopathology. 2016;68:303-7 pubmed publisher
    ..including abiraterone acetate alone or combined with leuprolide, were stained with antibodies against keratin AE1/AE3, prostate-specific antigen (PSA), prostate-specific acid phosphatase (PrAP), androgen receptor (AR), and NKX3.1...
  39. Lux S, John K, Kopito R, Lodish H. Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1). Proc Natl Acad Sci U S A. 1989;86:9089-93 pubmed
    The human erythrocyte anion-exchange protein (band 3 or AE1) was cloned from a fetal liver cDNA library. Three overlapping clones, encompassing 3637 nucleotides, were analyzed in detail...
  40. Kiyatkin A, Natarajan P, Munshi S, Minor W, Johnson J, Low P. Crystallization and preliminary X-ray analysis of the cytoplasmic domain of human erythrocyte band 3. Proteins. 1995;22:293-7 pubmed
    A cytoplasmic domain of the human erythrocyte membrane protein band 3 (M(r) = 42,500), residues 1-379, expressed in and purified from E...
  41. Askin D, Bloomberg G, Chambers E, Tanner M. NMR solution structure of a cytoplasmic surface loop of the human red cell anion transporter, band 3. Biochemistry. 1998;37:11670-8 pubmed
    ..A cyclic version of this peptide was synthesized and studied by CD, but NMR studies were not possible due to the low solubility of this peptide. ..
  42. Alfaro Cervello C, Burgues O. [Primary breast synovial sarcoma]. Rev Esp Patol. 2018;51:134-137 pubmed publisher
    ..Immunohistochemistry showed strong expression of vimentin and CD99, and focal bcl2, EMA, CK AE1-AE3, actin and desmin, with negativity for S100, CD34, CK7, CK14, CK19, hormone receptors, caldesmon and myosin...
  43. Jarolim P, Murray J, Rubin H, Smart E, Moulds J. Blood group antigens Rb(a), Tr(a), and Wd(a) are located in the third ectoplasmic loop of erythroid band 3. Transfusion. 1997;37:607-15 pubmed
    ..Wd(a) and Rb(a), and tentatively Tr(a), can be assigned to the Diego blood group system.
  44. Khositseth S, Sirikanerat A, Wongbenjarat K, Opastirakul S, Khoprasert S, Peuksungnern R, et al. Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand. Am J Kidney Dis. 2007;49:841-850.e1 pubmed
    Mutations in the anion exchanger 1 (AE1) gene encoding the erythroid and kidney anion (chloride-bicarbonate) exchanger 1 may result in hereditary distal renal tubular acidosis (dRTA). Hemoglobinopathies are common in Thailand...
  45. Lesesve J. Mushroom-shaped red blood cells in protein band-3 deficiency. Am J Hematol. 2011;86:694 pubmed publisher
  46. Yannoukakos D, Vasseur C, Blouquit Y, Bursaux E, Wajcman H. Primary structure of the cytoplasmic domain of human erythrocyte protein band 3. Comparison with its sequence in the mouse. Biochim Biophys Acta. 1989;998:43-9 pubmed
  47. Moulin P, Nivaggioni V, Saut N, Grosdidier C, Bernot D, Baccini V. Southeast asian ovalocytosis: the need for a carefull observation of red cell indices and blood smear. Ann Biol Clin (Paris). 2017;: pubmed publisher
    Southeast asian ovalocytosis (SAO) is characterized by macro-ovalocytes and ovalo-stomatocytes on blood smear...
  48. Tanner M. Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders. Curr Opin Hematol. 2002;9:133-9 pubmed
    ..The article discusses a likely mechanism for dominant distal renal tubular acidosis in which associations between the normal and mutant protein alter the plasma membrane targeting of the normal protein in the kidney...
  49. Chang S, Low P. Identification of a critical ankyrin-binding loop on the cytoplasmic domain of erythrocyte membrane band 3 by crystal structure analysis and site-directed mutagenesis. J Biol Chem. 2003;278:6879-84 pubmed
    ..These data thus suggest that the NH(2) terminus of cdb3 is proximal to but not required for the cdb3-ankyrin interaction. ..
  50. Loganathan S, Lukowski C, Casey J. The cytoplasmic domain is essential for transport function of the integral membrane transport protein SLC4A11. Am J Physiol Cell Physiol. 2016;310:C161-74 pubmed publisher
    ..modeling revealed that the structure of CD-SLC4A11 is similar to that of the Cl(-)/HCO3(-) exchange protein AE1 (SLC4A1) CD...
  51. Zipser Y, Piade A, Barbul A, Korenstein R, Kosower N. Ca2+ promotes erythrocyte band 3 tyrosine phosphorylation via dissociation of phosphotyrosine phosphatase from band 3. Biochem J. 2002;368:137-44 pubmed
  52. Edwards S, Moth C, Kim S, Brandon S, Zhou Z, Cobb C, et al. Automated structure refinement for a protein heterodimer complex using limited EPR spectroscopic data and a rigid-body docking algorithm: a three-dimensional model for an ankyrin-CDB3 complex. J Phys Chem B. 2014;118:4717-26 pubmed publisher
    ..To illustrate the power and utility of these tools, we report the refinement of an ankyrin:CDB3 complex model that exhibits much improved agreement with the EPR distance measurements, compared to model structures published previously. ..
  53. Hierso R, Lemonne N, Villaescusa R, Lalanne Mistrih M, Charlot K, Etienne Julan M, et al. Exacerbation of oxidative stress during sickle vaso-occlusive crisis is associated with decreased anti-band 3 autoantibodies rate and increased red blood cell-derived microparticle level: a prospective study. Br J Haematol. 2017;176:805-813 pubmed publisher
  54. Gargaro A, Bloomberg G, Dempsey C, Murray M, Tanner M. The solution structures of the first and second transmembrane-spanning segments of band 3. Eur J Biochem. 1994;221:445-54 pubmed
    ..Dynamical simulated annealing using the program XPLOR was employed for the structure calculations. The amide exchange rates in trifluoroethanol have also been measured and are consistent with an alpha-helical structure for the peptides. ..
  55. Nomura H, Nakamura Y, Cao X, Honda A, Katagi J, Ohara H, et al. Cardiohemodynamic and electrophysiological effects of a selective EP4 receptor agonist ONO--AE1--329 in the halothane-anesthetized dogs. Eur J Pharmacol. 2015;761:217-25 pubmed publisher
    Cardiovascular effects of a highly selective prostaglandin E2 type 4 (EP4) receptor agonist ONO-AE1-329 were assessed with the halothane-anesthetized dogs (n=6). ONO-AE1-329 was intravenously infused in three escalating doses of 0...
  56. Besouw M, Bienias M, Walsh P, Kleta R, Van t Hoff W, Ashton E, et al. Clinical and molecular aspects of distal renal tubular acidosis in children. Pediatr Nephrol. 2017;32:987-996 pubmed publisher
    ..by mutations in genes that encode subunits of the vacuolar H+-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy...
  57. Gonzales Viera O, Sánchez Sarmiento A, Fernandes N, Guerra J, Ressio R, Catão Dias J. Fatal haemorrhage and neoplastic thrombosis in a captive African lion (Panthera leo) with metastatic testicular sex cord-stromal tumour. Acta Vet Scand. 2017;59:69 pubmed publisher
    ..An immunohistochemistry panel of inhibin-?, Ki-67, human placental alkaline phosphatase, cytokeratin AE1/AE3, cKit, vimentin and S100 was conducted. Positive cytoplasmic immunolabeling was obtained for vimentin and S100...
  58. Su Y, Ding Y, Jiang M, Jiang W, Hu X, Zhang Z. Associations of protein 4.2 with band 3 and ankyrin. Mol Cell Biochem. 2006;289:159-66 pubmed
    ..2. The proper tertiary structures of these protein 4.2 fragments are essential for protein 4.2-ankyrin interaction. Meanwhile, ankyrin can enhance the interaction between protein 4.2 and CDB3. ..
  59. Khositseth S, Sirikanaerat A, Khoprasert S, Opastirakul S, Kingwatanakul P, Thongnoppakhun W, et al. Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies. Am J Hematol. 2008;83:465-71 pubmed publisher
    Mutations of the human SLC4A1 gene encoding erythroid and kidney isoforms of anion exchanger 1 (AE1, band 3) result in erythrocyte abnormalities or distal renal tubular acidosis (dRTA) and such mutations are observed in Southeast Asia, ..
  60. Esteves Oliveira M, Santos N, Meyer Lueckel H, Wierichs R, Rodrigues J. Caries-preventive effect of anti-erosive and nano-hydroxyapatite-containing toothpastes in vitro. Clin Oral Investig. 2017;21:291-300 pubmed publisher
    ..700 ppm F-/700 ppm F-/3500 ppm Sn2+, anti-erosion [AE1]); NaF/KNO3 (1400 ppm F-, anti-erosion [AE2]); nano-hydroxyapatite-containing (0 ppm F-..
  61. Kurano M, Nishikawa M, Kuma H, Jona M, Yatomi Y. Involvement of Band3 in the efflux of sphingosine 1-phosphate from erythrocytes. PLoS ONE. 2017;12:e0177543 pubmed publisher
    ..These results suggested the possible involvement of Band3 in the transport of S1P, a multi-functional bioactive phospholipid, from erythrocytes. ..
  62. Galletti J, Cañones C, Morande P, Borge M, Oppezzo P, Geffner J, et al. Chronic lymphocytic leukemia cells bind and present the erythrocyte protein band 3: possible role as initiators of autoimmune hemolytic anemia. J Immunol. 2008;181:3674-83 pubmed
    ..Therefore, our work shows that CLL cells can specifically bind, capture, and present B3 to T cells when in an activated state, an ability that could allow the neoplastic clone to trigger the autoaggressive process against erythrocytes. ..
  63. Kuramochi M, Izawa T, Nishimura S, Shimada T, Kuwamura M, Yamate J. Pleomorphic adenoma of the labial gland, characterized by reticular pattern of myoepithelial cells in a dog. J Vet Med Sci. 2017;79:1163-1166 pubmed publisher
    ..the mass consisted mainly of reticular pattern of short spindle cells that stained positively for cytokeratin AE1/AE3, ?-smooth muscle actin and p63, suggestive of a myoepithelial cell phenotype...
  64. Kanki T, Young M, Sakaguchi M, Hamasaki N, Tanner M. The N-terminal region of the transmembrane domain of human erythrocyte band 3. Residues critical for membrane insertion and transport activity. J Biol Chem. 2003;278:5564-73 pubmed
    ..Finally, deletion of the cytoplasmic surface sequence G(381)LVRD abolished chloride transport, but not surface expression, indicating that this sequence makes an essential structural contribution to the anion transport site of band 3. ..
  65. Stefanovic M, Puchulu Campanella E, Kodippili G, Low P. Oxygen regulates the band 3-ankyrin bridge in the human erythrocyte membrane. Biochem J. 2013;449:143-50 pubmed publisher
  66. Kiyotake K, Ochiai H, Yamaguchi T. Agglutination of human erythrocytes by the interaction of Zn(2+)ion with histidine-651 on the extracellular domain of band 3. Colloids Surf B Biointerfaces. 2016;141:284-290 pubmed publisher
    ..These data indicate that the interaction of Zn(2+) ion with His-651 residue of band 3 plays an important role in the Zn(2+)-induced agglutination of human erythrocytes. ..
  67. Rawal Y, Anderson K, Dodson T. Pseudomyogenic Hemangioendothelioma: A Vascular Tumor Previously Undescribed in the Oral Cavity. Head Neck Pathol. 2017;11:525-530 pubmed publisher
    ..No mitotic figures were present. Lesional cells were reactive to cytokeratin AE1/AE3 and CD31. Lesional cell reactivity to S100 protein, HMB 45, SMA, Desmin and CD34 was negative...
  68. Jennings M, Smith J. Anion-proton cotransport through the human red blood cell band 3 protein. Role of glutamate 681. J Biol Chem. 1992;267:13964-71 pubmed
    ..This residue is conserved among all species of red cell band 3 (AE1) as well as the related proteins AE2 and AE3...
  69. Bruce L, Pan R, Cope D, Uchikawa M, Gunn R, Cherry R, et al. Altered structure and anion transport properties of band 3 (AE1, SLC4A1) in human red cells lacking glycophorin A. J Biol Chem. 2004;279:2414-20 pubmed
    ..Our results suggest that band 3 in the red cell can take up two different structures: one with high anion transport activity when GPA is present and one with lower anion transport activity when GPA is absent. ..
  70. Hashmi G, Shariff T, Seul M, Vissavajjhala P, Hue Roye K, Charles Pierre D, et al. A flexible array format for large-scale, rapid blood group DNA typing. Transfusion. 2005;45:680-8 pubmed
    ..It has been shown that microarray technology can be used to type DNA and detect new alleles in donor cohorts. ..
  71. Duangtum N, Junking M, Sawasdee N, Cheunsuchon B, Limjindaporn T, Yenchitsomanus P. Human kidney anion exchanger 1 interacts with kinesin family member 3B (KIF3B). Biochem Biophys Res Commun. 2011;413:69-74 pubmed publisher
    Impaired trafficking of human kidney anion exchanger 1 (kAE1) to the basolateral membrane of ?-intercalated cells of the kidney collecting duct leads to the defect of the Cl(-)/HCO(3)(-) exchange and the failure of proton (H(+)) ..
  72. Chen L, Lee J, Chou C, Nair A, Battistone M, Paunescu T, et al. Transcriptomes of major renal collecting duct cell types in mouse identified by single-cell RNA-seq. Proc Natl Acad Sci U S A. 2017;114:E9989-E9998 pubmed publisher
    ..The analysis also identified a small fraction of hybrid cells expressing aquaporin-2 and anion exchanger 1 or pendrin transcripts...
  73. Popov M, Reithmeier R. Calnexin interaction with N-glycosylation mutants of a polytopic membrane glycoprotein, the human erythrocyte anion exchanger 1 (band 3). J Biol Chem. 1999;274:17635-42 pubmed
    ..calnexin with N-glycosylation mutants of a polytopic membrane glycoprotein, the human erythrocyte anion exchanger (AE1), was characterized by cell-free translation and in transfected HEK293 cells, followed by co-immunoprecipitation ..
  74. 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
    The anion exchanger 1 (AE1) is encoded by the SLC4A1 gene and catalyzes the electroneutral anion exchange across cell plasma membrane...
  75. Nettuwakul C, Sawasdee N, Yenchitsomanus P. Rapid detection of solute carrier family 4, member 1 (SLC4A1) mutations and polymorphisms by high-resolution melting analysis. Clin Biochem. 2010;43:497-504 pubmed publisher
    ..used for analysis of 16 blind DNA samples highly enriched with two common mutations, Southeast Asian ovalocytosis (SAO) and band 3 Bangkok 1 (G701D), to compare the results with that of the conventional procedures...
  76. Rucci A, Ensinck M, Mufarrege N, Cotorruelo C, Borras S, Racca L, et al. Modifications of band 3 and oxidation level of membrane proteins in senescent erythrocytes. Clin Biochem. 2010;43:1171-3 pubmed publisher
    ..An increase of protein oxidation level was found in SeRBC. These findings provide further experimental evidence about protein modifications occurring during the RBC lifespan. ..
  77. Kim S, Brandon S, Zhou Z, Cobb C, Edwards S, Moth C, et al. Determination of structural models of the complex between the cytoplasmic domain of erythrocyte band 3 and ankyrin-R repeats 13-24. J Biol Chem. 2011;286:20746-57 pubmed publisher
    ..ankyrin-R interacts via its membrane binding domain with the cytoplasmic domain of the anion exchange protein (AE1) and via its spectrin binding domain with the spectrin-based membrane skeleton in human erythrocytes...
  78. Almomani E, Lashhab R, Alexander R, Cordat E. The carboxyl-terminally truncated kidney anion exchanger 1 R901X dRTA mutant is unstable at the plasma membrane. Am J Physiol Cell Physiol. 2016;310:C764-72 pubmed publisher
    Mutations in the SLC4A1 gene coding for kidney anion exchanger 1 (kAE1) cause distal renal tubular acidosis (dRTA). We investigated the fate of the most common truncated dominant dRTA mutant kAE1 R901X...
  79. Bruce L, Anstee D, Spring F, Tanner M. 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 Pro854-->Leu. J Biol Chem. 1994;269:16155-8 pubmed
    Band 3 Memphis is a commonly occurring polymorphic form of the human red cell anion transporter (band 3, AE1)...
  80. Morgans C, Kopito R. Association of the brain anion exchanger, AE3, with the repeat domain of ankyrin. J Cell Sci. 1993;105 ( Pt 4):1137-42 pubmed
    ..and constitutes the binding site for the cytoplasmic NH2-terminal domain of the erythrocyte anion exchanger, AE1. We have developed an assay to evaluate the in vivo interaction between a fragment of ankyrin corresponding to this ..
  81. Daniels G, Anstee D, Cartron J, Dahr W, Issitt P, Jørgensen J, et al. Blood group terminology 1995. ISBT Working Party on terminology for red cell surface antigens. Vox Sang. 1995;69:265-79 pubmed
  82. Shmukler B, Kedar P, Warang P, Desai M, Madkaikar M, Ghosh K, et al. Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D. Am J Hematol. 2010;85:824-8 pubmed publisher
    ..acidosis (dRTA) can be caused by mutations in the Cl2/HCO32 exchanger of the renal Type A intercalated cell, kidney AE1/SLC4A1...
  83. Yannoukakos D, Vasseur C, Piau J, Wajcman H, Bursaux E. Phosphorylation sites in human erythrocyte band 3 protein. Biochim Biophys Acta. 1991;1061:253-66 pubmed
    ..A tyrosine phosphatase activity was copurified with whole band 3 protein which dephosphorylates specifically P-Tyr-8, indicating a highly exchangeable phosphate. The membrane-spanning fragment was only faintly labeled. ..
  84. Fu G, Wang Y, Xi Y, Shen W, Pan X, Shen W, et al. Direct interaction and cooperative role of tumor suppressor p16 with band 3 (AE1). FEBS Lett. 2005;579:2105-10 pubmed
    ..Moreover, expression of endogenous p16 in 293t cells was increased at 24 and 36 h after transfection with band 3. Our findings provide a novel regulation pathway for both band 3 and p16. ..
  85. Lima P, Baratti M, Chiattone M, Costa F, Saad S. Band 3Tambaú: 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. 2005;74:396-401 pubmed
    ..The characterisation of novel AE1 mutations is helpful to improve the understanding of the role of band 3 protein in cell physiology.
  86. Frumence E, Genetet S, Ripoche P, Iolascon A, Andolfo I, Le Van Kim C, et al. Rapid Cl?/HCO??exchange kinetics of AE1 in HEK293 cells and hereditary stomatocytosis red blood cells. Am J Physiol Cell Physiol. 2013;305:C654-62 pubmed publisher
    b>Anion exchanger 1 (AE1) or band 3 is a membrane protein responsible for the rapid exchange of chloride for bicarbonate across the red blood cell membrane...
  87. Chu C, King J, Berrini M, Rumley A, Apaja P, Lukacs G, et al. Degradation mechanism of a Golgi-retained distal renal tubular acidosis mutant of the kidney anion exchanger 1 in renal cells. Am J Physiol Cell Physiol. 2014;307:C296-307 pubmed publisher
    Distal renal tubular acidosis (dRTA) can be caused by mutations in the SLC4A1 gene encoding the anion exchanger 1 (AE1)...
  88. Okawa Y, Li J, Basu A, Casey J, Reithmeier R. Differential roles of tryptophan residues in the functional expression of human anion exchanger 1 (AE1, Band 3, SLC4A1). Mol Membr Biol. 2014;31:211-27 pubmed publisher
    b>Anion exchanger 1 (AE1) is a 95 kDa glycoprotein that facilitates Cl(-)=HCO(-)(3) exchange across the erythrocyte plasma membrane...
  89. Inoue T, Kanzaki A, Kaku M, Yawata A, Takezono M, Okamoto N, et al. Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency. Br J Haematol. 1998;102:932-9 pubmed
    ..2 deficiencies. ..
  90. Matsuoka Y, Li X, Bennett V. Adducin: structure, function and regulation. Cell Mol Life Sci. 2000;57:884-95 pubmed
    ..Prominent physiological sites of regulation of adducin include dendritic spines of hippocampal neurons, platelets and growth cones of axons. ..
  91. Ciccoli L, Rossi V, Leoncini S, Signorini C, Blanco Garcia J, Aldinucci C, et al. Iron release, superoxide production and binding of autologous IgG to band 3 dimers in newborn and adult erythrocytes exposed to hypoxia and hypoxia-reoxygenation. Biochim Biophys Acta. 2004;1672:203-13 pubmed
  92. Xu W, Song L, Liu Q, Zhao L, Zheng L, Yan Z, et al. Expression of anion exchanger 1 is associated with tumor progress in human gastric cancer. J Cancer Res Clin Oncol. 2009;135:1323-30 pubmed publisher
    b>Anion exchanger 1 (AE1) is a transmembrane glycoprotein which is abundantly expressed in erythrocyte plasma membrane and mediates the electroneutral exchange of Cl(-) and HCO(3) (-)...