Gene: KCNA1 (potassium voltage-gated channel subfamily A member 1) Homo sapiens
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
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38124,909,907 - 4,918,256 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37125,019,073 - 5,027,422 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36124,889,334 - 4,897,683 (+)NCBINCBI36hg18NCBI36
Build 34124,890,805 - 4,892,293NCBI
Celera126,640,916 - 6,649,264 (+)NCBI
Cytogenetic Map12p13.32NCBI
HuRef124,875,853 - 4,884,200 (+)NCBIHuRef
CHM1_1125,018,738 - 5,027,087 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on KCNA1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
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RGD Object Information
RGD ID: 1346938
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2018-03-13
Status: ACTIVE