KCNA1

Name

potassium voltage-gated channel subfamily A member 1

Type

protein-coding

Position

4,909,905–4,918,256 (+)

Aliases

AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1

Ensembl

ENSG00000111262

RefSeq RNA

NM_000217.3

RefSeq protein

NP_000208.2

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].

via MyGene.info

Gene · Ensembl

potassium voltage-gated channel subfamily A member 1

Symbol

KCNA1

Biotype

Protein coding

Organism

Homo sapiens

Location

12:4,909,905-4,918,256

Strand

Forward (+)

Assembly

GRCh38