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KCNA1 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu25897 NM_000217 Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu25897C NM_000217 Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. Customized vector In-stock 5-7 $149.00

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Gene Symbol KCNA1
Entrez Gene ID 3736
Full Name potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
Synonyms AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1
General protein information
Preferred Names
potassium voltage-gated channel subfamily A member 1
Names
potassium voltage-gated channel subfamily A member 1
voltage-gated K(+) channel HuKI
voltage-gated potassium channel HBK1
voltage-gated potassium channel subunit Kv1.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12p13.32

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].
Disorder

MIM: 176260

Episodic ataxia/myokymia syndrome, 160120 (3)

mRNA Protein Product Sequence Price Select
NM_000217, 119395747 NP_000208, 119395748 potassium voltage-gated channel subfamily A member 1 ORF Sequence $360.00
Reactome
REACT_13685Neuronal System
REACT_75908Potassium Channels
REACT_75770Voltage gated Potassium channels
Homo sapiens (human)KCNA1NP_000208.2
Pan troglodytes (chimpanzee)KCNA1XP_003313484.1
Macaca mulatta (Rhesus monkey)KCNA1XP_001102027.2
Canis lupus familiaris (dog)KCNA1XP_005637320.1
Bos taurus (cattle)KCNA1XP_005207261.1
Mus musculus (house mouse)Kcna1NP_034725.3
Rattus norvegicus (Norway rat)Kcna1NP_775118.1
Gallus gallus (chicken)KCNA1XP_004938130.1
Danio rerio (zebrafish)LOC795942XP_005163101.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100492822XP_004912859.1
Process
IDNameEvidence
GO:0006813potassium ion transportTAS
GO:0007268synaptic transmissionTAS
GO:0034765regulation of ion transmembrane transportIEA
GO:0051260protein homooligomerizationIEA
GO:0071805potassium ion transmembrane transportIEA
Component
IDNameEvidence
GO:0005886plasma membraneTAS
GO:0008076voltage-gated potassium channel complexIEA
GO:0016324apical plasma membraneIEA
GO:0030425dendriteIEA
GO:0043025neuronal cell bodyIEA
GO:0044224juxtaparanode region of axonISS
Function
IDNameEvidence
GO:0005251delayed rectifier potassium channel activityIBA
GO:0005267potassium channel activityTAS
GO:0005515protein bindingIPI
GO:0015079potassium ion transmembrane transporter activityTAS
GeneCards KCNA1
PDB 2AFL
UniProt Q09470
Vega OTTHUMG00000044398
MIM 176260
Ensembl ENSG00000111262
HGNC 6218
HPRD 08885

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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