KCNE1 : potassium voltage-gated channel subfamily E regulatory subunit 1
Description
The KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1) is a protein-coding gene located on chromosome 21.
The KCNE1 gene provides instructions for making a protein that regulates the activity of potassium channels. These channels, essential for cell signaling, transport potassium ions in and out of cells. KCNE1 works with the KCNQ1 gene to create a specific channel in the inner ear and heart. This channel plays a role in hearing and maintaining a regular heart rhythm by transporting potassium ions out of cells. KCNE1 also appears in the kidneys, testes, and uterus, where it likely regulates other potassium channels.
KCNE1 functions as a regulatory subunit of voltage-gated potassium (Kv) channel complexes. It forms a beta subunit that associates with alpha subunits, which are responsible for forming the channel pore. KCNE1 regulates the gating kinetics and increases the stability of the channel complex. When assembled with KCNB1, it alters the gating characteristics of the delayed rectifier voltage-dependent potassium channel. When assembled with KCNQ1/KVLQT1, it contributes to the formation of the slowly activating delayed rectifier cardiac potassium (IKs) channel. This channel exhibits slow activation kinetics, with the outward current reaching steady state only after 50 seconds. Additionally, KCNE1 may play a role in modulating the rapidly activating component of the delayed rectifying potassium current (IKr) in the heart when assembled with KCNH2/HERG.
KCNE1 is also known as ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK.
Associated Diseases
- Romano-Ward syndrome
- Long QT syndrome 5
- Jervell and Lange-Nielsen syndrome
- Familial atrial fibrillation
- Jervell and Lange-Nielsen syndrome 2
