Potassium voltage-gated channel subfamily E member 1
Function
Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE1 beta subunit modulates the gating kinetics and enhances stability of the channel complex (PubMed:19219384, PubMed:20533308, PubMed:9230439). Alters the gating of the delayed rectifier Kv channel containing KCNB1 alpha subunit (PubMed:19219384). Associates with KCNQ1/KVLQT1 alpha subunit to form the slowly activating delayed rectifier cardiac potassium (IKs) channel responsible for ventricular muscle action potential repolarization (PubMed:20533308). The outward current reaches its steady state only after 50 seconds (Probable). Assembly with KCNH2/HERG alpha subunit Kv channel may regulate the rapidly activating component of the delayed rectifying potassium current (IKr) in heart (PubMed:9230439).
Involvement in disease
Jervell and Lange-Nielsen syndrome 2
JLNS2
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Long QT syndrome 5
LQT5
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation inhibits the potassium current.
N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5.
Sequence Similarities
Belongs to the potassium channel KCNE family.
Tissue Specificity
Expressed in lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Expressed in the heart (PubMed:19219384). Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane portion of epithelial cells.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Apical cell membrane
- Membrane raft
- Colocalizes with KCNB1 at the plasma membrane (By similarity). Targets to the membrane raft when associated with KCNQ1 (PubMed:20533308).
Alternative names
Potassium voltage-gated channel subfamily E member 1, Delayed rectifier potassium channel subunit IsK, IKs producing slow voltage-gated potassium channel subunit beta Mink, Minimal potassium channel, MinK, KCNE1