KCNE1 Gene: Potassium Channel Regulatory Subunit in Cardiac and Auditory Function

KCNE1 encodes the MinK (minimal potassium channel) protein, a single-transmembrane domain beta subunit that assembles with KCNQ1 (Kv7.1) to form the slow delayed rectifier potassium channel (Iks) in cardiac myocytes and with other Kv channels in various tissues. This channel complex is essential for cardiac action potential repolarization and potassium homeostasis in the inner ear. Mutations in KCNE1 cause long QT syndrome type 5 (LQT5) and Jervell and Lange-Nielsen syndrome type 2 (JLNS2), characterized by prolonged QT interval, syncope, sudden cardiac death, and sensorineural deafness.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Cardiac muscle contraction (KEGG: hsa04260)

• Adrenergic signaling in cardiomyocytes (KEGG: hsa04261)

• Long QT syndrome (KEGG: hsa04270)

KCNE1 encodes MinK, a 129-amino acid single-pass transmembrane protein that functions as a regulatory beta subunit for voltage-gated potassium channels, primarily KCNQ1. MinK modulates channel gating, voltage dependence, and pharmacological sensitivity. The KCNQ1/KCNE1 complex generates the slow delayed rectifier current (Iks) critical for cardiac action potential repolarization. In the inner ear, it maintains potassium homeostasis necessary for hearing. Loss-of-function mutations lead to prolonged QT interval and deafness, while gain-of-function variants may contribute to atrial fibrillation.