Citations for
Interactions between small ankyrin 1 and sarcolipin coordinately regulate activity of the sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA1).
Desmond PF, Labuza A, Muriel J, Markwardt ML, Mancini AE, Rizzo MA, Bloch RJ.
J Biol Chem 292(26):10961-10972. doi: 10.1074/jbc.M117.783613. Epub 2017 May 9. 2017
Identification of Small Ankyrin 1 as a Novel Sarco(endo)plasmic Reticulum Ca2+-ATPase 1 (SERCA1) Regulatory Protein in Skeletal Muscle.
Desmond PF, Muriel J, Markwardt ML, Rizzo MA, Bloch RJ.
J Biol Chem 290(46):27854-67. doi: 10.1074/jbc.M115.676585. Epub 2015 Sep 24. 2015
β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.
Clarkson YL, Perkins EM, Cairncross CJ, Lyndon AR, Skehel PA, Jackson M.
Hum Mol Genet 23(14):3875-82. doi: 10.1093/hmg/ddu103. Epub 2014 Mar 6. 2014
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
A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features.
Miya K, Shimojima K, Sugawara M, Shimada S, Tsuri H, Harai-Tanaka T, Nakaoka S, Kanegane H, Miyawaki T, Yamamoto T.
Gene 506(1):146-9. doi: 10.1016/j.gene.2012.06.086. Epub 2012 Jul 4. Review. 2012
A tissue-specific chromatin loop activates the erythroid ankyrin-1 promoter.
Yocum AO, Steiner LA, Seidel NE, Cline AP, Rout ED, Lin JY, Wong C, Garrett LJ, Gallagher PG, Bodine DM.
Blood 120(17):3586-93. doi: 10.1182/blood-2012-08-450262. Epub 2012 Sep 11. 2012
Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover.
Lange S, Perera S, Teh P, Chen J.
Mol Biol Cell 23(13):2490-504. doi: 10.1091/mbc.E12-01-0052. Epub 2012 May 9. 2012
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
Integrity of the network sarcoplasmic reticulum in skeletal muscle requires small ankyrin 1.
Ackermann MA, Ziman AP, Strong J, Zhang Y, Hartford AK, Ward CW, Randall WR, Kontrogianni-Konstantopoulos A, Bloch RJ.
J Cell Sci 124(Pt 21):3619-30. doi: 10.1242/jcs.085159. Epub 2011 Nov 1. 2011
Functional analysis of a novel cis-acting regulatory region within the human ankyrin gene (ANK-1) promoter.
Laflamme K, Owen AN, Devlin EE, Yang MQ, Wong C, Steiner LA, Garrett LJ, Elnitski L, Gallagher PG, Bodine DM.
Mol Cell Biol 30(14):3493-502. Epub 2010 May 17. 2010
Characterization and comparison of two binding sites on obscurin for small ankyrin 1.
Busby B, Willis CD, Ackermann MA, Kontrogianni-Konstantopoulos A, Bloch RJ.
Biochemistry 49(46):9948-56. Epub 2010 Nov 1. 2010
12ANK1, SPH1
Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis.
Gallagher PG, Steiner LA, Liem RI, Owen AN, Cline AP, Seidel NE, Garrett LJ, Bodine DM.
J Clin Invest 120(12):4453-65. doi: 10.1172/JCI42240. Epub 2010 Nov 22. 2010
Novel roles for erythroid Ankyrin-1 revealed through an ENU-induced null mouse mutant.
Rank G, Sutton R, Marshall V, Lundie RJ, Caddy J, Romeo T, Fernandez K, McCormack MP, Cooke BM, Foote SJ, Crabb BS, Curtis DJ, Hilton DJ, Kile BT, Jane SM.
Blood 113(14):3352-62. Epub 2009 Jan 28.PMID: 19179303 2009
Ankyrin facilitates intracellular trafficking of alpha1-Na+-K+-ATPase in polarized cells.
Stabach PR, Devarajan P, Stankewich MC, Bannykh S, Morrow JS.
Am J Physiol Cell Physiol 295(5):C1202-14. Epub 2008 Sep 3.PMID: 18768923 2008
Structural insight into an ankyrin-sensitive lipid-binding site of erythroid beta-spectrin.
Czogalla A, Jaszewski AR, Diakowski W, Bok E, Jezierski A, Sikorski AF.
Mol Membr Biol 24(3):215-24. 2007
Mapping the binding site on small ankyrin 1 for obscurin.
Borzok MA, Catino DH, Nicholson JD, Kontrogianni-Konstantopoulos A, Bloch RJ.
J Biol Chem 282(44):32384-96. Epub 2007 Aug 25. 2007
Lipid-binding role of betaII-spectrin ankyrin-binding domain.
Bok E, Plazuk E, Hryniewicz-Jankowska A, Chorzalska A, Szmaj A, Dubielecka PM, Stebelska K, Diakowski W, Lisowski M, Langner M, Sikorski AF.
Cell Biol Int 31(12):1482-94. Epub 2007 Jul 15.PMID: 17716929 2007
18ANK1, SPH1
[Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis]
Camacho-Torres AL, S‡nchez-L—pez JY, Mesa-Cornejo VM, Ibarra B, Perea-D’az FJ.
Gac Med Mex 142(5):435-7. Spanish. 2006
Molecular interactions with obscurin are involved in the localization of muscle-specific small ankyrin1 isoforms to subcompartments of the sarcoplasmic reticulum.
Armani A, Galli S, Giacomello E, Bagnato P, Barone V, Rossi D, Sorrentino V.
Exp Cell Res 312(18):3546-58. Epub 2006 Aug 16. 2006
New case of contiguous gene syndrome at chromosome 8p11.2p12.
Cau M, Congiu R, Origa R, Galanello R, Melis MA, Nucaro AL.
Am J Med Genet A 136A(2):221-222. 2005
21ANK1, SPH1
A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis.
Gallagher PG, Nilson DG, Wong C, Weisbein JL, Garrett-Beal LJ, Eber SW, Bodine DM.
Hum Mol Genet 14(17):2501-9. Epub 2005 Jul 21. 2005
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP.
Nat Genet 33(4):463-5. Epub 2003 Mar 10. 2003
Obscurin is a ligand for small ankyrin 1 in skeletal muscle.
Kontrogianni-Konstantopoulos A, Jones EM, Van Rossum DB, Bloch RJ.
Mol Biol Cell 14(3):1138-48. 2003
The human ankyrin-1 gene is selectively transcribed in erythroid cell lines despite the presence of a housekeeping-like promoter.
Gallagher PG, Romana M, Tse WT, Lux SE, Forget BG.
Blood 96(3):1136-43. 2000
25ANK1, SPH1
Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis : three new ANK1 variants : ankyrins Bari, Napoli II and Anzio.
Randon J, et al.
Br J Haematol 96 : 500-506. 1997
26ANK1, SPH1
Ankyrin Bugey : a de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis.
MorlŽ L, et al.
Am J Hematol 54 : 242-248. 1997
Structure and organization of the human ankyrin-1 gene. Basis for complexity of premRNA processing.
Gallagher PG, Tse WT, Scarpa AL, Lux SE, Forget BG.
J Biol Chem 272(31):19220-8. 1997
28ANK1, SPH1
Ankyrin Napoli : a De novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis.
Miraglia del Giudice E, et al.
Br J Haematol 93 : 828-834. 1996
29ANK1, SPH1
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
Eber SW, et al.
Nat Genet 13 : 214-218. 1996
30ANK1, SPH1
A nonsense mutation 1669Glu-Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.
Jarolim P, et al.
J Clin Invest 95 : 941-947. 1995
31ANK1, SPH1
Hereditary spherocytic anemia with deletion of the short arm of chromosome 8.
Okamoto N, et al.
Am J Med Genet 58 : 225-229. 1995
Polymerase chain reaction analysis of an Ncol polymorphism of the human erythrocyte ankyrin gene letter.
Gallagher PG, et al.
Blood 80 : 1856-1857. 1992
Dinucleotide repeat polymorphism at the human ankyrin gene (ANK1).
Polymeropoulos MH, et al.
Nucleic Acids Res 19 : 969. 1991
34ANK1, SPH1
Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8.
Lux SE, et al.
Nature 345 : 736-739. 1990
35ANK1, SPH1
Dominant hereditary spherocytosis (HS) is linked to the gene for the erythrocyte membrane protein ankyrin.
Forget BG, et al.
(HGM10) Cytogenet Cell Genet 51 : 999. 1989