KCNA1

GENE INFORMATION

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Gene name

KCNA1 (HGNC Symbol)

Synonyms

AEMK, HUK1, Kv1.1, MBK1, RBK1

Description

potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (HGNC Symbol)

Entrez 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]

Chromosome

12 (Chromosome progress)

Cytoband

p13.32

Chromosome location (bp)

5019071 - 5040527

Ensembl

ENSG00000111262 (version 73.37)

Entrez gene

3736

UniProt

Q09470 (UniProt - Evidence at protein level)

neXtProt

NX_Q09470

Antibodypedia

KCNA1 antibodies
 

PROTEIN VIEW

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KCNA1-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

KCNA1-001 ENSP00000371985
ENST00000382545
Q09470
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