| 1 | ACE2, AGTR2, CLEC4G, DPP4, KREMEN1, LDLRAD3, NPR1, SLC4A1, TMEM30A
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| SARS-CoV-2 cell entry beyond the ACE2 receptor.
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| Alipoor SD, Mirsaeidi M.
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| Mol Biol Rep. Nov;49(11):10715-10727. doi: 10.1007/s11033-022-07700-x. Epub 2022 Jun 26 2022
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| 2 | ANK1, SLC4A1
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| Oxygen regulates the band 3-ankyrin bridge in the human erythrocyte membrane.
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| Stefanovic M, Puchulu-Campanella E, Kodippili G, Low PS.
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| Biochem J 449(1):143-50. doi: 10.1042/BJ20120869.
2013
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| 3 | SLC4A1, SLC4A4
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| A substrate access tunnel in the cytosolic domain is not an essential feature of the solute carrier 4 (SLC4) family of bicarbonate transporters.
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| Shnitsar V, Li J, Li X, Calmettes C, Basu A, Casey JR, Moraes TF, Reithmeier RA.
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| J Biol Chem 288(47):33848-60. doi: 10.1074/jbc.M113.511865. Epub 2013 Oct 11.
2013
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| 4 | DRTAA, SLC4A1
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| Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.
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| Fry AC, Su Y, Yiu V, Cuthbert AW, Trachtman H, Karet Frankl FE.
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| J Am Soc Nephrol 23(7):1238-49. Epub 2012 Apr 19.
2012
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| 5 | ANK1, SLC4A1
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| Ankyrin and band 3 differentially affect expression of membrane glycoproteins but are not required for erythroblast enucleation.
|
| Ji P, Lodish HF.
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| Biochem Biophys Res Commun 417(4):1188-92. doi: 10.1016/j.bbrc.2011.12.105. Epub 2011 Dec 27. 2012
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| 6 | KIF3B, SLC4A1
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| Human kidney anion exchanger 1 interacts with kinesin family member 3B (KIF3B).
|
| Duangtum N, Junking M, Sawasdee N, Cheunsuchon B, Limjindaporn T, Yenchitsomanus PT.
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| Biochem Biophys Res Commun 413(1):69-74. Epub 2011 Aug 17.
2011
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| 7 | EL4, SLC4A1
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| 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.
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| Am J Physiol Cell Physiol 300(5):C1034-46. Epub 2011 Jan 5.
2011
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| 8 | SLC4A1
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| 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.
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| Blood 118(1):182-91. Epub 2011 Apr 28.
2011
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| 9 | ANO2, 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
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| 10 | SLC4A1, SLC4A4
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| 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
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| 11 | DRTAA, SLC4A1
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| 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
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| 12 | AP1M1, SLC4A1
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| 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
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| 13 | DRTAA, SLC4A1
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| Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions.
|
| Patterson ST, Reithmeier RA.
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| J Biol Chem 285(43):33423-34. Epub 2010 Jul 13.
2010
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| 14 | SLC4A1
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| 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
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| 15 | EL4, SLC4A1
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| Molecular population genetics of SLC4A1 and Southeast Asian Ovalocytosis.
|
| Wilder JA, Stone JA, Preston EG, Finn LE, Ratcliffe HL, Sudoyo H.
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| J Hum Genet 54(3):182-7. Epub 2009 Feb 20.
2009
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| 16 | GYPA, SLC4A1
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| Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells.
|
| Pang AJ, Reithmeier RA.
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| Biochem J 421(3):345-56. doi: 10.1042/BJ20090345.
2009
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| 17 | SLC4A1
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| Structural characterization of the cytosolic domain of kidney chloride/bicarbonate anion exchanger 1 (kAE1).
|
| Pang AJ, Bustos SP, Reithmeier RA.
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| Biochemistry 47(15):4510-7. Epub 2008 Mar 22.
2008
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| 18 | SLC4A1
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| 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.
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| J Biol Chem 282(32):23205-18. Epub 2007 Jun 6. 2007
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| 19 | DRTAA, SLC4A1
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| 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
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| 20 | HHST2, SLC4A1
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| 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.
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| Nat Genet 37(11):1258-63. Epub 2005 Oct 9. 2005
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| 21 | DRTAA, SLC4A1
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| 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
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| 22 | SLC4A1, DRTAA
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| 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
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| 23 | SLC4A1, SLC4A1AP
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| 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
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| 24 | GYPA, SLC4A1
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| 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.
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| J Biol Chem 279(4):2414-20. Epub 2003 Nov 5.
2004
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| 25 | DRTAA, SLC4A1
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| Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis
|
| Devonald MA, Smith AN, Poon JP, Ihrke G, Karet FE.
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| Nat Genet 33(2):125-7. 2003
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| 26 | SLC4A1
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| 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
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| 27 | DRTAA, SLC4A1
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| 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.
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| J Am Soc Nephrol 13(6):1425-32. 2002
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| 28 | SLC4A1
|
| Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders.
|
| Tanner MJ.
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| Curr Opin Hematol 9(2):133-9. Review. 2002
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| 29 | SLC4A1, 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
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| 30 | DRTAA, 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
|
| 31 | DRTAA, 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
|
| 32 | SLC4A1, SPH4
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| 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.
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| Br J Haematol 102 : 932-939. 1998
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| 33 | DRTAA, SLC4A1
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| 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
|
| 34 | SLC4A1
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| 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
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| 35 | SLC4A1, 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.
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| Br J Haematol 98(1):32-40. 1997
|
| 36 | SLC4A1, 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
|
| 37 | DRTAA, 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
|
| 38 | SLC4A1, 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
|
| 39 | SLC4A1, 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
|
| 40 | SLC4A1, 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
|
| 41 | SLC4A1
|
| 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
|
| 42 | SLC4A1, 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
|
| 43 | KCNA1,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
|
| 44 | SLC4A1, 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
|
| 45 | D17S183, D17S1183, D17S1184, SLC4A1, ITGA2B
|
| A physical map encompassing GP2B,EPB3,D17S183,D17S78,D17S1183, and D17S1184.
|
| Miki Y, et al.
|
| Genomics 25 : 295-299. 1995
|
| 46 | SLC4A1, 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
|
| 47 | BGW, 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
|
| 48 | SLC4A1, 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
|
| 49 | SLC4A1
|
| The structure of the human red blood cell anion exchanger (EPB3, AE1, band 3) gene.
|
| Schofield AE, et al.
|
| Blood 84 : 2000-2012. 1994
|
| 50 | SLC4A1, SPH4
|
| The structure and organization of the human erythroid anion exchanger (AE1) gene.
|
| Sahr KE, et al.
|
| Genomics 24 : 491-501. 1994
|
| 51 | SLC4A1
|
| Molecular basis of human band-3 mutation associated with increased anion transport.
|
| Kay MMB, et al.
|
| Exp Clin Immunogenet 11 : 209-221. 1994
|
| 52 | SLC4A1, 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
|
| 53 | EL1, SLC4A1
|
| Two RFLPs in the human protein 4.1 gene (EL1).
|
| Tang TK, et al.
|
| Nucleic Acids Res 19 : 6057. 1991
|
| 54 | SLC4A1
|
| 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
|
| 55 | SLC4A1
|
| 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
|
| 56 | SLC4A1
|
| 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
|