InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KCNE1

Summary

InnateDB Protein

IDBP-231015.6

Last Modified

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

Gene Symbol

KCNE1

Protein Name

potassium voltage-gated channel, Isk-related family, member 1

Synonyms

ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK;

Species

Homo sapiens

Ensembl Protein

ENSP00000382228

InnateDB Gene

IDBG-2750 (KCNE1)

Protein Structure

UniProt Annotation

Function

Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347]: 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:10400998, ECO:0000269PubMed:9328483, ECO:0000269PubMed:9354783}. Note=The disease is caused by mutations affecting the gene represented in this entry.Long QT syndrome 5 (LQT5) [MIM:613695]: 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:10400998, ECO:0000269PubMed:10973849, ECO:0000269PubMed:11692163, ECO:0000269PubMed:9354802, ECO:0000269PubMed:9445165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in heart, lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane portion of epithelial cells. {ECO:0000269PubMed:9312006}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005249	voltage-gated potassium channel activity
GO:0005251	delayed rectifier potassium channel activity
GO:0005515	protein binding
GO:0015459	potassium channel regulator activity
GO:0031433	telethonin binding
GO:0086008	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
GO:1902282	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization

Biological Process

GO:0006487	protein N-linked glycosylation
GO:0006493	protein O-linked glycosylation
GO:0006811	ion transport
GO:0007605	sensory perception of sound
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization
GO:0071320	cellular response to cAMP
GO:0071435	potassium ion export
GO:0071805	potassium ion transmembrane transport
GO:0086002	cardiac muscle cell action potential involved in contraction
GO:0086005	ventricular cardiac muscle cell action potential
GO:0086009	membrane repolarization
GO:0086011	membrane repolarization during action potential
GO:0086013	membrane repolarization during cardiac muscle cell action potential
GO:0086091	regulation of heart rate by cardiac conduction
GO:1901379	regulation of potassium ion transmembrane transport
GO:1901381	positive regulation of potassium ion transmembrane transport
GO:1902259	regulation of delayed rectifier potassium channel activity