Potassium Voltage Gated Channel Isk Related Family, Member 1 (KCNE1)

KCNE1 encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified.

The protein consisted of 129 amino acid residues and shared structural characteristics with the rat counterpart. The transmembrane domain and its flanking C-terminal sequence were highly conserved between the human and rat sequences. The slowly activating potassium current elicited by the human protein on its expression in Xenopus oocytes was indistinguishable from that induced by the rat protein.