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Gene: KCNA1 (potassium voltage-gated channel subfamily A member 1) Homo sapiens
Symbol: KCNA1
Name: potassium voltage-gated channel subfamily A member 1
CRRD ID: 1346938
Description: Exhibits delayed rectifier potassium channel activity and disordered domain specific binding activity. Involved in several processes, including magnesium ion homeostasis; neuromuscular process; and potassium ion transmembrane transport. Localizes to juxtaparanode region of axon; paranode region of axon; and voltage-gated potassium channel complex. Implicated in episodic ataxia type 1.
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
GRCh38.p13 Ensembl124,909,905 - 4,918,256 (+)EnsemblGRCh38hg38GRCh38
GRCh38124,909,905 - 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


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


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
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1346938
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-09-23
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.