Potassium voltage-gated channel subfamily E regulatory beta subunit 5

Details

Name
Potassium voltage-gated channel subfamily E regulatory beta subunit 5
Synonyms
  • AMME syndrome candidate gene 2 protein
  • AMMECR2
  • KCNE1L
  • Potassium channel subunit beta MiRP4
  • Potassium voltage-gated channel subfamily E member 1-like protein
Gene Name
KCNE5
Organism
Humans
Amino acid sequence
>lcl|BSEQ0052241|Potassium voltage-gated channel subfamily E regulatory beta subunit 5
MNCSESQRLRTLLSRLLLELHHRGNASGLGAGPRPSMGMGVVPDPFVGREVTSAKGDDAY
LYILLIMIFYACLAGGLILAYTRSRKLVEAKDEPSQACAEHEWAPGGALTADAEAAAGSQ
AEGRRQLASEGLPALAQGAERV
Number of residues
142
Molecular Weight
14992.915
Theoretical pI
Not Available
GO Classification
Functions
ion channel binding / potassium channel regulator activity / voltage-gated potassium channel activity
Processes
atrial cardiac muscle cell action potential / cardiac muscle contraction / membrane repolarization during action potential / membrane repolarization during ventricular cardiac muscle cell action potential / negative regulation of delayed rectifier potassium channel activity / negative regulation of potassium ion export across plasma membrane / negative regulation of potassium ion transmembrane transport / positive regulation of potassium ion transmembrane transport / potassium ion export across plasma membrane / regulation of atrial cardiac muscle cell membrane repolarization / regulation of cation channel activity / regulation of heart contraction / regulation of heart rate by cardiac conduction / regulation of membrane repolarization / regulation of potassium ion transmembrane transport / regulation of ventricular cardiac muscle cell membrane repolarization / ventricular cardiac muscle cell action potential
Components
plasma membrane / voltage-gated potassium channel complex
General Function
Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1.
Specific Function
Ion channel binding
Pfam Domain Function
Transmembrane Regions
61-81
Cellular Location
Membrane
Gene sequence
>lcl|BSEQ0052242|Potassium voltage-gated channel subfamily E regulatory beta subunit 5 (KCNE5)
ATGAACTGCAGCGAGAGCCAGCGGCTGCGAACCCTTCTGAGCCGCCTGTTGCTCGAGCTG
CACCACCGGGGTAATGCCAGCGGCTTGGGCGCTGGCCCTCGTCCCAGCATGGGCATGGGG
GTCGTGCCTGACCCTTTCGTGGGCCGCGAGGTGACCAGCGCCAAGGGCGACGACGCCTAT
CTCTACATCCTGCTCATCATGATCTTCTACGCCTGCTTGGCCGGAGGCCTCATCCTGGCC
TACACCCGCTCCCGTAAGCTCGTCGAGGCCAAGGACGAGCCGTCCCAGGCTTGCGCCGAG
CACGAATGGGCCCCGGGAGGCGCCCTGACCGCCGACGCCGAGGCTGCCGCGGGCTCCCAG
GCCGAGGGCCGCCGCCAGCTTGCCTCCGAGGGGCTGCCTGCCCTCGCCCAGGGCGCTGAG
CGGGTCTAA
Chromosome Location
X
Locus
Xq23
External Identifiers
ResourceLink
UniProtKB IDQ9UJ90
UniProtKB Entry NameKCNE5_HUMAN
HGNC IDHGNC:6241
General References
  1. Piccini M, Vitelli F, Seri M, Galietta LJ, Moran O, Bulfone A, Banfi S, Pober B, Renieri A: KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs. Genomics. 1999 Sep 15;60(3):251-7. doi: 10.1006/geno.1999.5904. [Article]
  2. 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. [Article]
  3. Angelo K, Jespersen T, Grunnet M, Nielsen MS, Klaerke DA, Olesen SP: KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current. Biophys J. 2002 Oct;83(4):1997-2006. [Article]
  4. 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. [Article]
  5. Meloni I, Vitelli F, Pucci L, Lowry RB, Tonlorenzi R, Rossi E, Ventura M, Rizzoni G, Kashtan CE, Pober B, Renieri A: Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). J Med Genet. 2002 May;39(5):359-65. doi: 10.1136/jmg.39.5.359. [Article]
  6. Ravn LS, Hofman-Bang J, Dixen U, Larsen SO, Jensen G, Haunso S, Svendsen JH, Christiansen M: Relation of 97T polymorphism in KCNE5 to risk of atrial fibrillation. Am J Cardiol. 2005 Aug 1;96(3):405-7. doi: 10.1016/j.amjcard.2005.03.086. [Article]
  7. Ravn LS, Aizawa Y, Pollevick GD, Hofman-Bang J, Cordeiro JM, Dixen U, Jensen G, Wu Y, Burashnikov E, Haunso S, Guerchicoff A, Hu D, Svendsen JH, Christiansen M, Antzelevitch C: Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation. Heart Rhythm. 2008 Mar;5(3):427-35. doi: 10.1016/j.hrthm.2007.12.019. Epub 2008 Feb 4. [Article]
  8. Ohno S, Zankov DP, Ding WG, Itoh H, Makiyama T, Doi T, Shizuta S, Hattori T, Miyamoto A, Naiki N, Hancox JC, Matsuura H, Horie M: KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation. Circ Arrhythm Electrophysiol. 2011 Jun;4(3):352-61. doi: 10.1161/CIRCEP.110.959619. Epub 2011 Apr 14. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00228Enfluraneapproved, investigational, vet_approvedunknowninhibitoractivatorDetails
DB01069Promethazineapproved, investigationalunknowninducerDetails
DB01110Miconazoleapproved, investigational, vet_approvedunknowninhibitorDetails