Potassium voltage-gated channel subfamily E member 1

Details

Name
Potassium voltage-gated channel subfamily E member 1
Synonyms
  • Delayed rectifier potassium channel subunit IsK
  • IKs producing slow voltage-gated potassium channel subunit beta Mink
  • Minimal potassium channel
Gene Name
KCNE1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0000976|Potassium voltage-gated channel subfamily E member 1
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLG
IMLSYIRSKKLEHSNDPFNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNT
HLPETKPSP
Number of residues
129
Molecular Weight
14674.66
Theoretical pI
7.6
GO Classification
Functions
delayed rectifier potassium channel activity / potassium channel regulator activity / telethonin binding
Processes
cardiac muscle cell action potential involved in contraction / cellular response to cAMP / membrane repolarization / membrane repolarization during action potential / membrane repolarization during cardiac muscle cell action potential / negative regulation of delayed rectifier potassium channel activity / negative regulation of protein targeting to membrane / positive regulation of potassium ion transmembrane transport / potassium ion export / potassium ion transmembrane transport / protein N-linked glycosylation / protein O-linked glycosylation / regulation of delayed rectifier potassium channel activity / regulation of heart rate by cardiac conduction / regulation of potassium ion transmembrane transport / regulation of ventricular cardiac muscle cell membrane repolarization / sensory perception of sound / ventricular cardiac muscle cell action potential
Components
apical plasma membrane / cell surface / lysosome / plasma membrane / voltage-gated potassium channel complex / Z disc
General Function
Telethonin binding
Specific Function
Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:19219384). Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).
Pfam Domain Function
Transmembrane Regions
44-66
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0010344|Potassium voltage-gated channel subfamily E member 1 (KCNE1)
ATGATCCTGTCTAACACCACAGCGGTGACGCCCTTTCTGACCAAGCTGTGGCAGGAGACA
GTTCAGCAGGGTGGCAACATGTCGGGCCTGGCCCGCAGGTCCCCCCGCAGCAGTGACGGC
AAGCTGGAGGCCCTCTACGTCCTCATGGTACTGGGATTCTTCGGCTTCTTCACCCTGGGC
ATCATGCTGAGCTACATCCGCTCCAAGAAGCTGGAGCACTCGAACGACCCATTCAACGTC
TACATCGAGTCCGATGCCTGGCAAGAGAAGGACAAGGCCTATGTCCAGGCCCGGGTCCTG
GAGAGCTACAGGTCGTGCTATGTCGTTGAAAACCATCTGGCCATAGAACAACCCAACACA
CACCTTCCTGAGACGAAGCCTTCCCCATGA
Chromosome Location
21
Locus
Not Available
External Identifiers
ResourceLink
UniProtKB IDP15382
UniProtKB Entry NameKCNE1_HUMAN
GenBank Protein ID386838
GenBank Gene IDM26685
GenAtlas IDKCNE1
HGNC IDHGNC:6240
General References
  1. Murai T, Kakizuka A, Takumi T, Ohkubo H, Nakanishi S: Molecular cloning and sequence analysis of human genomic DNA encoding a novel membrane protein which exhibits a slowly activating potassium channel activity. Biochem Biophys Res Commun. 1989 May 30;161(1):176-81. [PubMed:2730656]
  2. Lai LP, Deng CL, Moss AJ, Kass RS, Liang CS: Polymorphism of the gene encoding a human minimal potassium ion channel (minK). Gene. 1994 Dec 30;151(1-2):339-40. [PubMed:7828904]
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334]
  4. Chouabe C, Neyroud N, Guicheney P, Lazdunski M, Romey G, Barhanin J: Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J. 1997 Sep 1;16(17):5472-9. [PubMed:9312006]
  5. McDonald TV, Yu Z, Ming Z, Palma E, Meyers MB, Wang KW, Goldstein SA, Fishman GI: A minK-HERG complex regulates the cardiac potassium current I(Kr). Nature. 1997 Jul 17;388(6639):289-92. [PubMed:9230439]
  6. Abbott GW, Goldstein SA: Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. FASEB J. 2002 Mar;16(3):390-400. [PubMed:11874988]
  7. McCrossan ZA, Roepke TK, Lewis A, Panaghie G, Abbott GW: Regulation of the Kv2.1 potassium channel by MinK and MiRP1. J Membr Biol. 2009 Mar;228(1):1-14. doi: 10.1007/s00232-009-9154-8. Epub 2009 Feb 14. [PubMed:19219384]
  8. Roura-Ferrer M, Sole L, Oliveras A, Dahan R, Bielanska J, Villarroel A, Comes N, Felipe A: Impact of KCNE subunits on KCNQ1 (Kv7.1) channel membrane surface targeting. J Cell Physiol. 2010 Nov;225(3):692-700. doi: 10.1002/jcp.22265. [PubMed:20533308]
  9. Bas T, Gao GY, Lvov A, Chandrasekhar KD, Gilmore R, Kobertz WR: Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease. J Biol Chem. 2011 Aug 12;286(32):28150-9. doi: 10.1074/jbc.M111.235168. Epub 2011 Jun 15. [PubMed:21676880]
  10. Chandrasekhar KD, Lvov A, Terrenoire C, Gao GY, Kass RS, Kobertz WR: O-glycosylation of the cardiac I(Ks) complex. J Physiol. 2011 Aug 1;589(Pt 15):3721-30. doi: 10.1113/jphysiol.2011.211284. Epub 2011 Jun 13. [PubMed:21669976]
  11. Kang C, Tian C, Sonnichsen FD, Smith JA, Meiler J, George AL Jr, Vanoye CG, Kim HJ, Sanders CR: Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel. Biochemistry. 2008 Aug 5;47(31):7999-8006. doi: 10.1021/bi800875q. Epub 2008 Jul 9. [PubMed:18611041]
  12. Tesson F, Donger C, Denjoy I, Berthet M, Bennaceur M, Petit C, Coumel P, Schwarts K, Guicheney P: Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome. J Mol Cell Cardiol. 1996 Sep;28(9):2051-5. [PubMed:8899564]
  13. Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JF, Bathen J, Aslaksen B, Sorland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M: IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet. 1997 Nov;6(12):2179-85. [PubMed:9328483]
  14. Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, Rubie C, Hordt M, Towbin JA, Borggrefe M, Assmann G, Qu X, Somberg JC, Breithardt G, Oberti C, Funke H: KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet. 1997 Nov;17(3):267-8. [PubMed:9354783]
  15. Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT: Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet. 1997 Nov;17(3):338-40. [PubMed:9354802]
  16. Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH: Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. Circulation. 1998 Jan 20;97(2):142-6. [PubMed:9445165]
  17. Bianchi L, Shen Z, Dennis AT, Priori SG, Napolitano C, Ronchetti E, Bryskin R, Schwartz PJ, Brown AM: Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. Hum Mol Genet. 1999 Aug;8(8):1499-507. [PubMed:10400998]
  18. Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 Sep 5;102(10):1178-85. [PubMed:10973849]
  19. Schulze-Bahr E, Schwarz M, Hauenschild S, Wedekind H, Funke H, Haverkamp W, Breithardt G, Pongs O, Isbrandt D: A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype. J Mol Med (Berl). 2001 Sep;79(9):504-9. [PubMed:11692163]
  20. Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC: Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 Apr 20;109(15):1834-41. Epub 2004 Mar 29. [PubMed:15051636]
  21. Napolitano C, Priori SG, Schwartz PJ, Bloise R, Ronchetti E, Nastoli J, Bottelli G, Cerrone M, Leonardi S: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 Dec 21;294(23):2975-80. [PubMed:16414944]
  22. Van Laer L, Carlsson PI, Ottschytsch N, Bondeson ML, Konings A, Vandevelde A, Dieltjens N, Fransen E, Snyders D, Borg E, Raes A, Van Camp G: The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. Hum Mutat. 2006 Aug;27(8):786-95. [PubMed:16823764]
  23. Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23. [PubMed:19716085]
  24. Dvir M, Strulovich R, Sachyani D, Ben-Tal Cohen I, Haitin Y, Dessauer C, Pongs O, Kass R, Hirsch JA, Attali B: Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP(2). J Cell Sci. 2014 Sep 15;127(Pt 18):3943-55. doi: 10.1242/jcs.147033. Epub 2014 Jul 18. [PubMed:25037568]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB04957AzimilideinvestigationalunknownDetails