| Gene Symbol |
KCNA1
|
| Gene Synonyms |
EA1 MK1 AEMK HBK1 HUK1 MBK1 RBK1 KV1.1 |
| Gene Full Name |
potassium voltage-gated channel subfamily A member 1 |
| Gene Summary |
This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein 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 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-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008] |
| Alternative Names |
AEMK EA1 Episodic ataxia with myokymia HBK1 HUK1 Kca1 1 Kcna1 KCNA1_HUMAN Kcpvd KV1.1 MBK1 mceph MGC124402 MGC126782 MGC138385 MK1 MK1 mouse homolog of KV1.1 Potassium channel protein 1 Potassium voltage gated channel shaker related subfamily member 1 Potassium voltage gated channel subfamily A member 1 Potassium voltage gated channel shaker related subfamily member 1 (episodic ataxia with myokymia) Potassium voltage-gated channel subfamily A member 1 RBK1 RCK1 Shak Shaker related subfamily member 1 Voltage gated potassium channel subunit Kv1.1 Voltage-gated K(+) channel HuKI Voltage-gated potassium channel HBK1 Voltage-gated potassium channel subunit Kv1.1 |
| Molecular Weight(MW) |
56 kDa |
| Cellular Localization |
Cell junction,Cell membrane,Cell projection,Cytoplasmic vesicle,Endoplasmic reticulum,Membrane,Synapse. |