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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000217 Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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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?

What is the normal function of the KCNA1 gene?

The KCNA1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.

The KCNA1 gene provides instructions for making one part (the alpha subunit) of a potassium channel called Kv1.1. These channels are found in the brain, where they transport potassium ions into nerve cells (neurons). The flow of certain ions, including potassium, into and out of neurons regulates communication between these cells.

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