Seroatlas · Human Serome Atlas

KCNA1

Potassium voltage-gated channel subfamily A member 1

Also known as: AEMK, HUK1, KCNA1_HUMAN, Kv1.1, MBK1, RBK1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q09470
Gene
KCNA1
Ensembl
ENSG00000111262
Chromosome
12
Canonical length
495 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Quaternary structure
Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

495 residues, UniProt reviewed canonical sequence.

>Q09470|KCNA1
     1  MTVMSGENVD EASAAPGHPQ DGSYPRQADH DDHECCERVV INISGLRFET QLKTLAQFPN
    61  TLLGNPKKRM RYFDPLRNEY FFDRNRPSFD AILYYYQSGG RLRRPVNVPL DMFSEEIKFY
   121  ELGEEAMEKF REDEGFIKEE ERPLPEKEYQ RQVWLLFEYP ESSGPARVIA IVSVMVILIS
   181  IVIFCLETLP ELKDDKDFTG TVHRIDNTTV IYNSNIFTDP FFIVETLCII WFSFELVVRF
   241  FACPSKTDFF KNIMNFIDIV AIIPYFITLG TEIAEQEGNQ KGEQATSLAI LRVIRLVRVF
   301  RIFKLSRHSK GLQILGQTLK ASMRELGLLI FFLFIGVILF SSAVYFAEAE EAESHFSSIP
   361  DAFWWAVVSM TTVGYGDMYP VTIGGKIVGS LCAIAGVLTI ALPVPVIVSN FNYFYHRETE
   421  GEEQAQLLHV SSPNLASDSD LSRRSSSTMS KSEYMEIEED MNNSIAHYRQ VNIRTANCTT
   481  ANQNCVNKSK LLTDV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.41
Highest tissue expression
53 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 53 nTPM
  • basal ganglia: 30 nTPM
  • cerebral cortex: 24 nTPM
  • hippocampal formation: 23 nTPM
  • amygdala: 6 nTPM
  • midbrain: 4.9 nTPM

Single-cell type

  • brain excitatory neurons: 1.8 nCPM
  • podocytes: 1.3 nCPM
  • brain inhibitory neurons: 0.5 nCPM
  • respiratory ciliated cells: 0.5 nCPM
  • gonadotrophs: 0.4 nCPM
  • oligodendrocyte progenitor cells: 0.4 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 104 nTPM
  • white matter: 55 nTPM
  • cerebellum: 52 nTPM
  • pons: 47 nTPM
  • thalamus: 45 nTPM
  • hippocampal formation: 38 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNA1.

Disease | AllUniProt

Conditions KCNA1 is implicated in, by any mechanism.

Disease | GeneticClinVar

44 pathogenic / likely-pathogenic of 732 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.73
gnomAD pLI
0.08
gnomAD missense Z
3.33
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KCNA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KCNA1 as an antibody target. Whether an autoantibody or antibody against KCNA1 could matter depends on whether native KCNA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCNA1 is annotated at the cell surface, where native KCNA1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label KCNA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KCNA1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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