Gene: KCNA1 (potassium voltage-gated channel subfamily A member 1) Homo sapiens
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Symbol: KCNA1
Name: potassium voltage-gated channel subfamily A member 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MGC126782; MGC138385; MK1; potassium channel, voltage gated shaker related subfamily A, member 1; potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia); RBK1; voltage-gated K(+) channel HuKI; voltage-gated potassium channel HBK1; voltage-gated potassium channel subunit Kv1.1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38124,909,907 - 4,918,256 (+)NCBIGRCh38hg38GRCh38
GRCh37125,019,073 - 5,027,422 (+)NCBIGRCh37hg19GRCh37
Build 36124,889,334 - 4,897,683 (+)NCBINCBI36hg18NCBI36
Build 34124,890,805 - 4,892,293NCBI
Celera126,640,916 - 6,649,264 (+)NCBI
Cytogenetic Map12p13.32NCBImapview
HuRef124,875,853 - 4,884,200 (+)NCBI
CHM1_1125,018,738 - 5,027,087 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

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Nomenclature History
 
More on KCNA1
NCBI Gene
Ensembl Gene
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RGD Object Information
RGD ID: 1346938
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2017-09-12
Status: ACTIVE