KCNQ1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

KCNQ1

Aliases

ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS

Entrez Gene ID

3784

Gene Name

Potassium voltage-gated channel subfamily Q member 1

Chromosomal Location

11p15.5-p15.4

HGNC ID

HGNC:6294

Summary

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

NG_008935.1

RefSeq mRNA

NM_000218.3, NM_000218.2, NM_181798.1

e!Ensembl

Gene	ENSG00000282076, ENSG00000053918
Transcript	ENST00000632981, ENST00000632153, ENST00000496887, ENST00000155840, ENST00000646564, ENST00000335475, ENST00000380776, ENST00000526095
Protein	ENSP00000488783, ENSP00000488381, ENSP00000434560, ENSP00000155840, ENSP00000495806, ENSP00000334497, ENSP00000370153, ENSP00000494939

Gene Ontology (GO)

Show/Hide all(63 )

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
GO:0060306	Biological process	Regulation of membrane repolarization	IDA	11299204
GO:0060306	Biological process	Regulation of membrane repolarization	IMP	8900283
GO:0060307	Biological process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	8528244
GO:0060372	Biological process	Regulation of atrial cardiac muscle cell membrane repolarization	IMP	12522251
GO:0060452	Biological process	Positive regulation of cardiac muscle contraction	IMP	19646991
GO:0071320	Biological process	Cellular response to cAMP	IDA	11299204, 16002409
GO:0071320	Biological process	Cellular response to cAMP	IMP	18093912
GO:0071805	Biological process	Potassium ion transmembrane transport	IBA	21873635
GO:0071805	Biological process	Potassium ion transmembrane transport	IDA	9354802, 11299204, 16002409
GO:0071872	Biological process	Cellular response to epinephrine stimulus	TAS	11799244
GO:0086005	Biological process	Ventricular cardiac muscle cell action potential	IMP	8528244
GO:0086011	Biological process	Membrane repolarization during action potential	IDA	8900283, 11299204, 19646991
GO:0086013	Biological process	Membrane repolarization during cardiac muscle cell action potential	IMP	8528244
GO:0086013	Biological process	Membrane repolarization during cardiac muscle cell action potential	TAS	11299204
GO:0086014	Biological process	Atrial cardiac muscle cell action potential	IMP	12522251
GO:0086091	Biological process	Regulation of heart rate by cardiac conduction	IMP	8528244
GO:0097623	Biological process	Potassium ion export across plasma membrane	IBA	21873635
GO:0097623	Biological process	Potassium ion export across plasma membrane	IDA	8900283, 10400998, 17289006
GO:0098914	Biological process	Membrane repolarization during atrial cardiac muscle cell action potential	IMP	12522251, 25786344
GO:0098915	Biological process	Membrane repolarization during ventricular cardiac muscle cell action potential	IMP	8528244
GO:1901381	Biological process	Positive regulation of potassium ion transmembrane transport	IDA	8900283
GO:0005737	Cellular component	Cytoplasm	IDA	25037568
GO:0005764	Cellular component	Lysosome	IDA	21957902
GO:0005769	Cellular component	Early endosome	IDA	21957902
GO:0005769	Cellular component	Early endosome	IMP	23529131
GO:0005770	Cellular component	Late endosome	IDA	21957902
GO:0005783	Cellular component	Endoplasmic reticulum	IDA	21228319, 24855057
GO:0005783	Cellular component	Endoplasmic reticulum	IPI	24855057
GO:0005886	Cellular component	Plasma membrane	IDA	10646604, 21228319, 22024150, 23529131, 24184248, 25037568, 25705178
GO:0008076	Cellular component	Voltage-gated potassium channel complex	IBA	21873635
GO:0008076	Cellular component	Voltage-gated potassium channel complex	IC	8900283
GO:0008076	Cellular component	Voltage-gated potassium channel complex	IDA	16002409, 17289006, 19646991
GO:0016021	Cellular component	Integral component of membrane	IBA	21873635
GO:0016323	Cellular component	Basolateral plasma membrane	IDA	21228319, 21957902
GO:0034702	Cellular component	Ion channel complex	IPI	24855057
GO:0045121	Cellular component	Membrane raft	IDA	20533308, 24855057
GO:0005249	Molecular function	Voltage-gated potassium channel activity	IBA	21873635
GO:0005249	Molecular function	Voltage-gated potassium channel activity	IDA	8900283, 17289006, 24855057
GO:0005249	Molecular function	Voltage-gated potassium channel activity	IDA	16002409
GO:0005251	Molecular function	Delayed rectifier potassium channel activity	IBA	21873635
GO:0005251	Molecular function	Delayed rectifier potassium channel activity	IDA	12522251, 24184248, 24269949, 25037568
GO:0005251	Molecular function	Delayed rectifier potassium channel activity	IDA	8900283, 9354802, 10400998, 11299204, 19646991
GO:0005515	Molecular function	Protein binding	IPI	19521339, 19687231, 20533308, 22024150, 23529131
GO:0005516	Molecular function	Calmodulin binding	IBA	21873635
GO:0005516	Molecular function	Calmodulin binding	IDA	18165683
GO:0005546	Molecular function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	25037568
GO:0008157	Molecular function	Protein phosphatase 1 binding	IDA	11799244
GO:0015271	Molecular function	Outward rectifier potassium channel activity	IBA	21873635
GO:0015271	Molecular function	Outward rectifier potassium channel activity	IDA	9312006, 11101505, 25705178
GO:0034236	Molecular function	Protein kinase A catalytic subunit binding	IDA	11799244
GO:0034237	Molecular function	Protein kinase A regulatory subunit binding	IDA	11799244
GO:0044325	Molecular function	Ion channel binding	IPI	11101505, 12324418, 20196769, 24855057, 25037568
GO:0086008	Molecular function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP	12522251
GO:0086089	Molecular function	Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IBA	21873635
GO:0086089	Molecular function	Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP	12522251, 25786344
GO:0097110	Molecular function	Scaffold protein binding	IPI	11799244, 16002409, 18093912
GO:1902282	Molecular function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IBA	21873635
GO:1902282	Molecular function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	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

Function

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

NP_000209.2, NP_861463.1

UniProt

P51787

PDB

4UMO, 4V0C, 3BJ4, 3HFC, 3HFE

KCNQ1

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