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Gene

KCNA1

potassium voltage-gated channel subfamily A member 1

Summary

Cytogenetic location
12p13.32
Coordinates
Chromosome 12: 4,909,905–4,918,256 (GRCh38)
Exons
2 exons across 8.4 kb
Protein
495 amino acids
Inheritance
Autosomal dominant
Also known as
Kv1.1, RBK1, HUK1, MBK1
Previous symbols
AEMK
MANE Select transcript
ENST00000382545.5NM_000217.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Episodic Ataxias

    • Hereditary Episodic AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias with attacks of imbalance, including EA1 (KCNA1), EA2 (CACNA1A) and EA6 (SLC1A3).

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Episodic ataxia type 2 often responds to acetazolamide or 4-aminopyridine, and avoiding known triggers can reduce attacks.

Broader groupings

  • Epilepsy (Full Panel)

    • Epilepsy

      One of 171 genes linked to it

      A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How KCNA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where KCNA1 sits. KCNA1 and 11 genes near it on chromosome 12, from 4,414,081 to 5,414,080.Chromosome 1212p13.32p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.334.6 Mb4.8 Mb5 Mb5.2 Mb5.4 MbFGF6: 4,428,155–4,445,816, reverse strandFGF6FERRY3: 4,487,735–4,538,519, reverse strandFERRY3RAD51AP1: 4,538,775–4,560,254, forward strandRAD51AP1DYRK4: 4,562,187–4,616,764, forward strandDYRK4: 4,604,944–4,662,643, forward strandAKAP3: 4,613,383–4,649,072, reverse strandAKAP3NDUFA9: 4,649,095–4,701,398, forward strandNDUFA9: 4,649,101–4,774,184, forward strandGALNT8: 4,719,870–4,851,927, forward strandGALNT8KCNA6: 4,809,334–4,813,318, forward strandKCNA6KCNA1: 4,909,905–4,918,256, forward strandKCNA1KCNA5: 5,043,879–5,052,613, forward strandKCNA5Diagram of KCNA1: 2 exons on the forward strand of chromosome 12Exon 2: 28 known disease-causing sitesExon 1: 4,909,905–4,910,472, 568 basesExon 2: 4,910,840–4,918,256, 7,417 bases125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 8 kb of the gene's 8.4 kb; 1,488 of those bases code for the protein.

How a genome test reads KCNA1

28

positions in KCNA1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 8.4 kb of KCNA1, introns included, not only the 8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). KCNA1 gene: potassium voltage-gated channel subfamily A member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/kcna1

Vancouver

Dante Labs. KCNA1 gene: potassium voltage-gated channel subfamily A member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/kcna1

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