Citations for
1ANK1, SLC4A1
Oxygen regulates the band 3-ankyrin bridge in the human erythrocyte membrane.
Stefanovic M, Puchulu-Campanella E, Kodippili G, Low PS.
Biochem J 449(1):143-50. doi: 10.1042/BJ20120869. 2013
2SLC4A1, SLC4A4
A substrate access tunnel in the cytosolic domain is not an essential feature of the solute carrier 4 (SLC4) family of bicarbonate transporters.
Shnitsar V, Li J, Li X, Calmettes C, Basu A, Casey JR, Moraes TF, Reithmeier RA.
J Biol Chem 288(47):33848-60. doi: 10.1074/jbc.M113.511865. Epub 2013 Oct 11. 2013
3DRTAA, SLC4A1
Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.
Fry AC, Su Y, Yiu V, Cuthbert AW, Trachtman H, Karet Frankl FE.
J Am Soc Nephrol 23(7):1238-49. Epub 2012 Apr 19. 2012
4ANK1, SLC4A1
Ankyrin and band 3 differentially affect expression of membrane glycoproteins but are not required for erythroblast enucleation.
Ji P, Lodish HF.
Biochem Biophys Res Commun 417(4):1188-92. doi: 10.1016/j.bbrc.2011.12.105. Epub 2011 Dec 27. 2012
5KIF3B, SLC4A1
Human kidney anion exchanger 1 interacts with kinesin family member 3B (KIF3B).
Duangtum N, Junking M, Sawasdee N, Cheunsuchon B, Limjindaporn T, Yenchitsomanus PT.
Biochem Biophys Res Commun 413(1):69-74. Epub 2011 Aug 17. 2011
6EL4, SLC4A1
Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.
Stewart AK, Kedar PS, Shmukler BE, Vandorpe DH, Hsu A, Glader B, Rivera A, Brugnara C, Alper SL.
Am J Physiol Cell Physiol 300(5):C1034-46. Epub 2011 Jan 5. 2011
7SLC4A1
Critical band 3 multiprotein complex interactions establish early during human erythropoiesis.
Satchwell TJ, Bell AJ, Pellegrin S, Kupzig S, Ridgwell K, Daniels G, Anstee DJ, van den Akker E, Toye AM.
Blood 118(1):182-91. Epub 2011 Apr 28. 2011
8ANO2, SLC12A2, SLC4A1
Molecular components of signal amplification in olfactory sensory cilia.
Hengl T, Kaneko H, Dauner K, Vocke K, Frings S, Möhrlen F.
Proc Natl Acad Sci U S A 107(13):6052-7. Epub 2010 Mar 15.PMID: 20231443 2010
9SLC4A1, SLC4A4
Structural and functional characterization of the C-terminal transmembrane region of NBCe1-A.
Zhu Q, Kao L, Azimov R, Abuladze N, Newman D, Pushkin A, Liu W, Chang C, Kurtz I.
J Biol Chem 285(48):37178-87. Epub 2010 Sep 13. 2010
10DRTAA, SLC4A1
A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype.
Shao L, Xu Y, Dong Q, Lang Y, Yue S, Miao Z.
Endocrine 37(3):473-8. Epub 2010 Apr 17. 2010
11AP1M1, SLC4A1
Human kidney anion exchanger 1 interacts with adaptor-related protein complex 1 μ1A (AP-1 mu1A).
Sawasdee N, Junking M, Ngaojanlar P, Sukomon N, Ungsupravate D, Limjindaporn T, Akkarapatumwong V, Noisakran S, Yenchitsomanus PT.
Biochem Biophys Res Commun 401(1):85-91. Epub 2010 Sep 15. 2010
12DRTAA, SLC4A1
Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions.
Patterson ST, Reithmeier RA.
J Biol Chem 285(43):33423-34. Epub 2010 Jul 13. 2010
13SLC4A1
Structure of the membrane domain of human erythrocyte anion exchanger 1 revealed by electron crystallography.
Yamaguchi T, Ikeda Y, Abe Y, Kuma H, Kang D, Hamasaki N, Hirai T.
J Mol Biol 397(1):179-89. Epub 2010 Jan 25. 2010
14EL4, SLC4A1
Molecular population genetics of SLC4A1 and Southeast Asian Ovalocytosis.
Wilder JA, Stone JA, Preston EG, Finn LE, Ratcliffe HL, Sudoyo H.
J Hum Genet 54(3):182-7. Epub 2009 Feb 20. 2009
15GYPA, SLC4A1
Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells.
Pang AJ, Reithmeier RA.
Biochem J 421(3):345-56. doi: 10.1042/BJ20090345. 2009
16SLC4A1
Structural characterization of the cytosolic domain of kidney chloride/bicarbonate anion exchanger 1 (kAE1).
Pang AJ, Bustos SP, Reithmeier RA.
Biochemistry 47(15):4510-7. Epub 2008 Mar 22. 2008
17SLC4A1
Interaction of integrin-linked kinase with the kidney chloride/bicarbonate exchanger, kAE1.
Keskanokwong T, Shandro HJ, Johnson DE, Kittanakom S, Vilas GL, Thorner P, Reithmeier RA, Akkarapatumwong V, Yenchitsomanus PT, Casey JR.
J Biol Chem 282(32):23205-18. Epub 2007 Jun 6. 2007
18DRTAA, SLC4A1
Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis.
Sawasdee N, Udomchaiprasertkul W, Noisakran S, Rungroj N, Akkarapatumwong V, Yenchitsomanus PT.
Biochem Biophys Res Commun 350(3):723-30. Epub 2006 Oct 2. 2006
19HHST2, SLC4A1
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.
Bruce LJ, Robinson HC, Guizouarn H, Borgese F, Harrison P, King MJ, Goede JS, Coles SE, Gore DM, Lutz HU, Ficarella R, Layton DM, Iolascon A, Ellory JC, Stewart GW.
Nat Genet 37(11):1258-63. Epub 2005 Oct 9. 2005
20DRTAA, SLC4A1
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.
Rungroj N, Devonald MA, Cuthbert AW, Reimann F, Akkarapatumwong V, Yenchitsomanus PT, Bennett WM, Karet FE.
J Biol Chem 279(14):13833-8. Epub 2004 Jan 20. 2004
21SLC4A1, DRTAA
Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).
Kittanakom S, Cordat E, Akkarapatumwong V, Yenchitsomanus PT, Reithmeier RA.
J Biol Chem 279(39):40960-71. Epub 2004 Jul 13. 2004
22SLC4A1, SLC4A1AP
Human kanadaptin and kidney anion exchanger 1 (kAE1) do not interact in transfected HEK 293 cells.
Kittanakom S, Keskanokwong T, Akkarapatumwong V, Yenchitsomanus PT, Reithmeier RA.
Mol Membr Biol 21(6):395-402. 2004
23GYPA, SLC4A1
Altered structure and anion transport properties of band 3 (AE1, SLC4A1) in human red cells lacking glycophorin A.
Bruce LJ, Pan RJ, Cope DL, Uchikawa M, Gunn RB, Cherry RJ, Tanner MJ.
J Biol Chem 279(4):2414-20. Epub 2003 Nov 5. 2004
24DRTAA, SLC4A1
Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis
Devonald MA, Smith AN, Poon JP, Ihrke G, Karet FE.
Nat Genet 33(2):125-7. 2003
25SLC4A1
Band 3 is an anchor protein and a target for SHP-2 tyrosine phosphatase in human erythrocytes.
Bordin L, Brunati AM, Donella-Deana A, Baggio B, Toninello A, Clari G.
Blood 100(1):276-82. 2002
26DRTAA, SLC4A1
Secretory-defect distal renal tubular acidosis is associated with transporter defect in H(+)-ATPase and anion exchanger-1.
Han JS, Kim GH, Kim J, Jeon US, Joo KW, Na KY, Ahn C, Kim S, Lee SE, Lee JS.
J Am Soc Nephrol 13(6):1425-32. 2002
27SLC4A1
Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders.
Tanner MJ.
Curr Opin Hematol 9(2):133-9. Review. 2002
28SLC4A1, SLC4A2
Molecular characterization of anion exchangers in the cochlea.
Zimmermann U, Kopschall I, Rohbock K, Bosman GJ, Zenner HP, Knipper M.
Mol Cell Biochem 205(1-2):25-37. 2000
29DRTAA, SLC4A1
Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) CI-/HCO3-exchanger.
Jarolim P, Shayakul C, Prabakaran D, Jiang L, Stuart-Tilley A, Rubin HL, Simova S, Zavadil J, Herrin JT, Brouillette J, Somers MJ, Seemanova E, Brugnara C, Guay-Woodford LM, Alper SL.
J Biol Chem 273(11):6380-8. 1998
30DRTAA, SLC4A1
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.
Karet FE, et al.
Proc Natl Acad Sci U S A 95 : 6337-6342. 1998
31SLC4A1, SPH4
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.
Inoue T, et al.
Br J Haematol 102 : 932-939. 1998
32DRTAA, SLC4A1
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.
Tanphaichitr VS, Sumboonnanonda A, Ideguchi H, Shayakul C, Brugnara C, Takao M, Veerakul G, Alper SL.
J Clin Invest 102 : 2173-2179. 1998
33SLC4A1
Molecular analysis of regulation of gene expression of the human erythroid anion exchanger (AE) 1.
Philipp S, Kneussel M, Konig J, Appelhans H.
FEBS Lett 438 : 315-320. 1998
34SLC4A1, SPH4
Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.
Dhermy D, Galand C, Bournier O, Boulanger L, Cynober T, Schismanoff PO, Bursaux E, Tchernia G, Boivin P, Garbarz M.
Br J Haematol 98(1):32-40. 1997
35SLC4A1, SPH4
A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis.
Bianchi P, Zanella A, Alloisio N, Barosi G, Bredi E, Pelissero G, Zappa M, Vercellati C, Baronciani L, Delaunay J, Sirchia G.
Br J Haematol 98(2):283-8. 1997
36DRTAA, SLC4A1
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.
Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJ.
J Clin Invest 100(7):1693-707. 1997
37SLC4A1, SPH4
Band 3 Campinas: a novel splicing mutation in the band 3 gene (AE1) associated with hereditary spherocytosis, hyperactivity of Na+/Li+ countertransport and an abnormal renal bicarbonate handling.
Lima PR, Gontijo JA, Lopes de Faria JB, Costa FF, Saad ST.
Blood 90(7):2810-8. 1997
38SLC4A1, SPH5
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.
Jenkins PB, et al.
J Clin Invest 97 : 373-380. 1996
39SLC4A1, SPH4
Hereditary spherocytosis with band 3 deficiency. Association with a nonsense mutation of the band 3 gene (allele Lyon), and aggravation by a low-expression allele occurring in trans (allele Genas).
Alloisio N, et al.
Blood 88 : 1062-1069. 1996
40SLC4A1
Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton.
Peters LL, et al.
Cell 86 : 917-927. 1996
41SLC4A1, SPH4
Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.
Jarolim P, et al.
Blood 88 : 4366-4374. 1996
42KCNA1,SLC4A1
Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.
Lubbers WJ, et al.
J Neurol Neurosurg Psychiatry 59 : 400-405. 1995
43SLC4A1, SPH4
Band 3 chur : a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.
Maillet P, et al.
Br J Haematol 91 : 804-810. 1995
44D17S183, D17S1183, D17S1184, SLC4A1, ITGA2B
A physical map encompassing GP2B,EPB3,D17S183,D17S78,D17S1183, and D17S1184.
Miki Y, et al.
Genomics 25 : 295-299. 1995
45SLC4A1, SPH4
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.
Jarolim P, et al.
Blood 85 : 634-640. 1995
46BGW, SLC4A1, WD
Assignment of the Waldner blood group locus (WD) to 17q12-q21.
Zelinski T, Coghlan G, White L, Philipps S.
Genomics 25(1):320-2. No abstract available. 1995
47SLC4A1, SPH4
Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (Band 3prague).
Jarolim P, et al.
J Clin Invest 93 : 121-130. 1994
48SLC4A1
The structure of the human red blood cell anion exchanger (EPB3, AE1, band 3) gene.
Schofield AE, et al.
Blood 84 : 2000-2012. 1994
49SLC4A1, SPH4
The structure and organization of the human erythroid anion exchanger (AE1) gene.
Sahr KE, et al.
Genomics 24 : 491-501. 1994
50SLC4A1
Molecular basis of human band-3 mutation associated with increased anion transport.
Kay MMB, et al.
Exp Clin Immunogenet 11 : 209-221. 1994
51SLC4A1, SPH4
Band 3 tuscaloosa : Pro327-Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2.
Jarolim P, et al.
Blood 80 : 523-529. 1992
52EL1, SLC4A1
Two RFLPs in the human protein 4.1 gene (EL1).
Tang TK, et al.
Nucleic Acids Res 19 : 6057. 1991
53SLC4A1
A PstI polymorphism for the human erythrocyte surface protein band 3 (EPB3) demonstrates close linkage of EPB3 to the nerve growth factor receptor.
Stewart EA, Kopito R, Bowcock AM.
Genomics 5 : 633-635. 1989
54SLC4A1
Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1).
Lux SE, et al.
Proc Natl Acad Sci U S A 86 : 9089-9093. 1989
55SLC4A1
Localization of the gene for erythroid anion exchange protein, band 3 (EMPB3), to human chromosome 17.
Showe LC, et al.
Genomics 1 : 71-76. 1987