Seroatlas · Human Serome Atlas

KCNQ1

Potassium voltage-gated channel subfamily KQT member 1

Also known as: JLNS1, KCNA8, KCNA9, KCNQ1_HUMAN, Kv7.1, KVLQT1, LQT, LQT1

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

Protein identityUniProt · HPA

UniProt accession
P51787
Gene
KCNQ1
Ensembl
ENSG00000053918
Chromosome
11
Canonical length
676 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Subcellular location
Endoplasmic reticulum,Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

676 residues, UniProt reviewed canonical sequence.

>P51787|KCNQ1
     1  MAAASSPPRA ERKRWGWGRL PGARRGSAGL AKKCPFSLEL AEGGPAGGAL YAPIAPGAPG
    61  PAPPASPAAP AAPPVASDLG PRPPVSLDPR VSIYSTRRPV LARTHVQGRV YNFLERPTGW
   121  KCFVYHFAVF LIVLVCLIFS VLSTIEQYAA LATGTLFWME IVLVVFFGTE YVVRLWSAGC
   181  RSKYVGLWGR LRFARKPISI IDLIVVVASM VVLCVGSKGQ VFATSAIRGI RFLQILRMLH
   241  VDRQGGTWRL LGSVVFIHRQ ELITTLYIGF LGLIFSSYFV YLAEKDAVNE SGRVEFGSYA
   301  DALWWGVVTV TTIGYGDKVP QTWVGKTIAS CFSVFAISFF ALPAGILGSG FALKVQQKQR
   361  QKHFNRQIPA AASLIQTAWR CYAAENPDSS TWKIYIRKAP RSHTLLSPSP KPKKSVVVKK
   421  KKFKLDKDNG VTPGEKMLTV PHITCDPPEE RRLDHFSVDG YDSSVRKSPT LLEVSMPHFM
   481  RTNSFAEDLD LEGETLLTPI THISQLREHH RATIKVIRRM QYFVAKKKFQ QARKPYDVRD
   541  VIEQYSQGHL NLMVRIKELQ RRLDQSIGKP SLFISVSEKS KDRGSNTIGA RLNRVEDKVT
   601  QLDQRLALIT DMLHQLLSLH GGSTPGSGGP PREGGAHITQ PCGSGGSVDP ELFLPSNTLP
   661  TYEQLTVPRR GPDEGS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNQ1 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)
0.51
Highest tissue expression
196 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 196 nTPM
  • stomach: 96 nTPM
  • thyroid gland: 67 nTPM
  • pancreas: 62 nTPM
  • seminal vesicle: 47 nTPM
  • duodenum: 45 nTPM

Single-cell type

  • epicardial cells: 2,417 nCPM
  • adrenal cortex cells: 1,119 nCPM
  • renal collecting duct principal cells: 431 nCPM
  • renal connecting tubule cells: 348 nCPM
  • cardiomyocytes: 320 nCPM
  • microglia: 301 nCPM

Immune cell

  • myeloid DC: 3.8 nTPM
  • neutrophil: 3.3 nTPM
  • classical monocyte: 3.1 nTPM
  • eosinophil: 3.1 nTPM
  • non-classical monocyte: 2.8 nTPM
  • intermediate monocyte: 1.8 nTPM

Brain region

  • choroid plexus: 13 nTPM
  • white matter: 10 nTPM
  • medulla oblongata: 10 nTPM
  • thalamus: 9.9 nTPM
  • spinal cord: 9.5 nTPM
  • pons: 9.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNQ1.

Disease | AllUniProt

Conditions KCNQ1 is implicated in, by any mechanism.

Disease | GeneticClinVar

549 pathogenic / likely-pathogenic of 2,558 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

ReferencesPubMed · IEDB

Publications for KCNQ1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

4 publications

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
0.81
gnomAD pLI
0
gnomAD missense Z
1.83
DepMap mean gene effect
0.01
DepMap dependency class
selective

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 KCNQ1 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 KCNQ1 as an antibody target. Whether an autoantibody or antibody against KCNQ1 could matter depends on whether native KCNQ1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCNQ1 is annotated at the cell surface, where native KCNQ1 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 KCNQ1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KCNQ1. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...