Gene Information
Gene Symbol
Entrez Gene ID
Gene Name
Potassium voltage-gated channel subfamily Q member 1
Chromosomal Location
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
RefSeq DNA
RefSeq mRNA

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0007605 Biological process Sensory perception of sound TAS 9020846
GO:0008016 Biological process Regulation of heart contraction IC 8900283
GO:0010460 Biological process Positive regulation of heart rate IMP 19646991
GO:0035690 Biological process Cellular response to drug IDA 9108097
GO:0060048 Biological process Cardiac muscle contraction IMP 8528244
Protein Information
Protein Name
Potassium voltage-gated channel subfamily KQT member 1, IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1, kidney and cardiac voltage dependend K+ channel, potassium channel, voltage gated KQT-like subfamily Q, member 1, potassium voltage-gated channel, KQT-like subfamily, member 1, slow delayed rectifier channel subunit, voltage-gated potassium channel subunit Kv7.1
Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity) (PubMed:10646604). Associates with KCNE beta subunits that modulates current kinetics (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5-bisphosphate (PubMed:25037568). .; [Isoform 2]: Non-functional alone but modulatory when coexpressed with the full-length isoform 1.
Refseq Proteins

Adrenergic signaling in cardiomyocytes
Cholinergic synapse
Gastric acid secretion
Pancreatic secretion
Protein digestion and absorption
Vibrio cholerae infection


Voltage gated Potassium channels
Phase 3 - rapid repolarisation
Phase 2 - plateau phase


Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Atrial Fibrillation
Short Qt Syndrome
Coronary heart disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Long QT Syndrome
15935335, 22095730, 20138589, 20421371, 17053194, 17482572, 11530100, 12205790, 15234419, 11351021, 15176425, 15746441, 20031635, 15214551, 9693036, 12820704, 20348026, 14756674, 17091796, 9781056, 19165230, 16253915, 8872472, 12653681, 19843919, 12877697, 17984373, 9312006, 1240233, 16246960, 14998624, 16922724, 25741868, 27041150, 16414944, 8528244, 10973849, 27485560, 18580685, 14678125, 10220144, 9570196, 23350853, 23891399, 12205113, 15358555, 20660394, 19716085, 8487283, 22613981, 9654228, 22949429, 8818942, 10511610, 9386136, 15840476, 23251633, 10024302, 16556866, 10560595, 15466642, 26346102, 12442276, 27041096, 12702160, 9799083, 23092362, 22429796, 24006450, 24291113, 25037568, 20044973, 19841300, 24357532, 9272155, 19490272, 24666684, 22456477, 17905336, 28492, 10482963, 24269949, 10728423, 11799244, 24184248, 18400097, 10409658, 9024139, 19540844, 9702906, 19808498, 25705178, 9302275, 10367071, 25139741, 9323054, 99273, 24912595, 23631430, 22539601, 14510661, 12051962, 24552659, 22309168, 24033266, 10704188, 23098067, 26546361, 10090886, 18441444

Impact of variants on type-2 diabetes risk genes identified through genomewide association studies in polycystic ovary syndrome: a case-control study.

Ezzidi Intissar, Mtiraoui Nabil, Mohmmed Ali Mohammed Eltigani, Masoudi Aqeel Al, Abu Duhier Faisel
Prince Fahd Bin Sultan Research Chair, Using Advance Technology for Diseases Detection and Treatment, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia. iezzidi@ut.edu.sa.
J Genet. 2018 Dec;97(5):1213-1223.

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