InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KCNQ1

Summary

InnateDB Protein

IDBP-23000.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KCNQ1

Protein Name

potassium voltage-gated channel, KQT-like subfamily, member 1

Synonyms

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

Species

Homo sapiens

Ensembl Protein

ENSP00000155840

InnateDB Gene

IDBG-22998 (KCNQ1)

Protein Structure

UniProt Annotation

Function

Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac potassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were coexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis and pathologically stimulated in cholera and other forms of secretory diarrhea.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:18165683}; Multi-pass membrane protein {ECO:0000269PubMed:18165683}. Cytoplasmic vesicle membrane {ECO:0000269PubMed:18165683}; Multi- pass membrane protein {ECO:0000269PubMed:18165683}.

Disease Associations

Long QT syndrome 1 (LQT1) [MIM:192500]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269PubMed:10024302, ECO:0000269PubMed:10220144, ECO:0000269PubMed:10220146, ECO:0000269PubMed:10367071, ECO:0000269PubMed:10482963, ECO:0000269PubMed:10728423, ECO:0000269PubMed:10973849, ECO:0000269PubMed:15840476, ECO:0000269PubMed:19540844, ECO:0000269PubMed:21241800, ECO:0000269PubMed:8528244, ECO:0000269PubMed:8818942, ECO:0000269PubMed:8872472, ECO:0000269PubMed:9024139, ECO:0000269PubMed:9272155, ECO:0000269PubMed:9302275, ECO:0000269PubMed:9386136, ECO:0000269PubMed:9482580, ECO:0000269PubMed:9570196, ECO:0000269PubMed:9641694, ECO:0000269PubMed:9693036, ECO:0000269PubMed:9702906, ECO:0000269PubMed:9799083, ECO:0000269PubMed:9927399, ECO:0000269Ref.21}. Note=The disease is caused by mutations affecting the gene represented in this entry.Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]: An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. {ECO:0000269PubMed:10090886, ECO:0000269PubMed:10728423, ECO:0000269PubMed:9781056}. Note=The disease is caused by mutations affecting the gene represented in this entry.Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554]: An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269PubMed:12522251}. Note=The disease is caused by mutations affecting the gene represented in this entry.Short QT syndrome 2 (SQT2) [MIM:609621]: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. {ECO:0000269PubMed:15159330}. Note=The disease is caused by mutations affecting the gene represented in this entry.Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269PubMed:18711366, ECO:0000269PubMed:18711367, ECO:0000269PubMed:24390345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.

Experimentally validated
Total	25 [view]
Protein-Protein	25 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005249	voltage-gated potassium channel activity
GO:0005251	delayed rectifier potassium channel activity
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0008157	protein phosphatase 1 binding
GO:0034236	protein kinase A catalytic subunit binding
GO:0034237	protein kinase A regulatory subunit binding
GO:0044325	ion channel binding
GO:0086008	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
GO:0086089	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization
GO:0097110	scaffold protein binding
GO:1902282	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization

Biological Process

GO:0006349	regulation of gene expression by genetic imprinting
GO:0006811	ion transport
GO:0007268	synaptic transmission
GO:0007605	sensory perception of sound
GO:0008016	regulation of heart contraction
GO:0016458	gene silencing
GO:0035690	cellular response to drug
GO:0055085	transmembrane transport
GO:0060048	cardiac muscle contraction
GO:0060306	regulation of membrane repolarization
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060372	regulation of atrial cardiac muscle cell membrane repolarization
GO:0071320	cellular response to cAMP
GO:0071435	potassium ion export
GO:0071805	potassium ion transmembrane transport
GO:0071872	cellular response to epinephrine stimulus
GO:0072358	cardiovascular system development
GO:0086005	ventricular cardiac muscle cell action potential
GO:0086011	membrane repolarization during action potential
GO:0086013	membrane repolarization during cardiac muscle cell action potential
GO:0086014	atrial cardiac muscle cell action potential
GO:0086091	regulation of heart rate by cardiac conduction
GO:1901381	positive regulation of potassium ion transmembrane transport

Cellular Component

GO:0005764	lysosome
GO:0005769	early endosome
GO:0005770	late endosome
GO:0005886	plasma membrane
GO:0008076	voltage-gated potassium channel complex
GO:0016020	membrane
GO:0016323	basolateral plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR003091 Potassium channel
IPR003937 Potassium channel, voltage dependent, KCNQ
IPR005821 Ion transport domain
IPR005827 Potassium channel, voltage dependent, KCNQ1
IPR013099 Two pore domain potassium channel domain
IPR013821 Potassium channel, voltage dependent, KCNQ, C-terminal

PFAM

PF00520
PF07885
PF03520

PRINTS

PR00169
PR01459
PR01460

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P51787