potassium voltage-gated channel subfamily E regulatory subunit 1
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A KCNE1 gene provides instructions for making a protein that regulates the activity of potassium channels. These channels, which transport positively charged potassium atoms (ions) into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.
Normal function
A KCNE1 gene provides instructions for making a protein that regulates the activity of potassium channels. These channels, which transport positively charged potassium atoms (ions) into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.
The specific function of a potassium channel depends on its protein components and its location in the body. The KCNE1 protein regulates a channel made up of four parts, called alpha subunits, which are produced from the KCNQ1 gene. One beta subunit, produced from the KCNE1 gene, binds to the channel and regulates its activity.
These channels are active in the inner ear and in heart (cardiac) muscle, where they transport potassium ions out of cells. In the inner ear, the channels play a role in maintaining the proper ion balance needed for normal hearing. In the heart, the channels are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. The KCNE1 protein is also produced in the kidneys, testes, and uterus, where it probably regulates the activity of other channels.
Conditions referring to this gene or chromosome
Other names
delayed rectifier potassium channel subunit IsK
IKs producing slow voltage-gated potassium channel beta subunit Mink
ISK
JLNS2
KCNE1_HUMAN
LQT5
minimal potassium channel
minK
potassium channel, voltage gated subfamily E regulatory beta subunit 1
potassium voltage-gated channel, Isk-related family, member 1
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Leitura adicional e referências
- potassium voltage-gated channel subfamily E regulatory subunit 1; MedlinePlus, National Library of Medicine.
- Abbott GW. KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation. Gene. 2016 Jan 15;576(1 Pt 1):1-13. doi: 10.1016/j.gene.2015.09.059. Epub 2015 Sep 26.
- Chan PJ, Osteen JD, Xiong D, Bohnen MS, Doshi D, Sampson KJ, Marx SO, Karlin A, Kass RS. Characterization of KCNQ1 atrial fibrillation mutations reveals distinct dependence on KCNE1. J Gen Physiol. 2012 Feb;139(2):135-44. doi: 10.1085/jgp.201110672. Epub 2012 Jan 16.
- Ehmke H. Physiological functions of the regulatory potassium channel subunit KCNE1. Am J Physiol Regul Integr Comp Physiol. 2002 Mar;282(3):R637-8. doi: 10.1152/ajpregu.00723.2001. No abstract available.
- Faridi R, Przybylski R, Saenen J, Hertzano R, Newman WG, Friedman TB. Jervell and Lange-Nielsen Syndrome. 2002 Jul 29 [updated 2026 Oct 15]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1405/
- Groffen AJ, Bikker H, Christiaans I. Long QT Syndrome Overview. 2003 Feb 20 [updated 2024 Mar 21]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1129/
- Lundquist AL, Turner CL, Ballester LY, George AL Jr. Expression and transcriptional control of human KCNE genes. Genomics. 2006 Jan;87(1):119-28. doi: 10.1016/j.ygeno.2005.09.004. Epub 2005 Nov 21.
- Melman YF, Um SY, Krumerman A, Kagan A, McDonald TV. KCNE1 binds to the KCNQ1 pore to regulate potassium channel activity. Neuron. 2004 Jun 24;42(6):927-37. doi: 10.1016/j.neuron.2004.06.001.
- Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, Smeets HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 Mar;82(3):182-8. doi: 10.1007/s00109-003-0522-z. Epub 2004 Feb 4.
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