Gene:
potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
Gene ID:
195856
Symbol:
KCNA1
Species:
1000
Description:
KCNA1/Kv1.1 encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel (accession number: M17211). The KCNA1/Kv1.1 product has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The predominant KCNA1 Kv1.1 transcript is 8.0 kb. The coding region and the entire known 5' and 3' UTR is contained in a single uninterrupted exon (AC006063, M36456). The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminal is complexed to a PDZ domain protein that is responsible for channel targeting.