|Homo sapiens Gene: KCNA1|
|Last Modified||2012-02-14 [Report errors or provide feedback]|
|Gene Name||potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)|
|Synonyms||AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1; RBK1;|
potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
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]
|Genomic Location||Chromosome 12:5019071-5040527|
|Number of Interactions||
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Possible paralog/unusual divergence/ gene prediction error
|UniProt Splice Variant|
|UniGene||Hs.416139 Hs.595107 Hs.674156|
|EMBL||AC006063 BC101733 BC112180 CH471116 L02750|
|GenPept||AAA36139 AAI01734 AAI12181 EAW88833|
|RNA Seq Atlas||3736|