KCNE1
Potassium voltage-gated channel subfamily E member 1
Also known as: IsK, JLNS2, KCNE1_HUMAN, LQT5, minK
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P15382
- Gene
- KCNE1
- Ensembl
- ENSG00000180509
- Chromosome
- 21
- Canonical length
- 129 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
OverviewNCBI Gene
The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
129 residues, UniProt reviewed canonical sequence.
>P15382|KCNE1
1 MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLMV LGFFGFFTLG
61 IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
121 HLPETKPSPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNE1 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
- 1
- Mean surface accessibility (rSASA)
- 0.58
- Highest tissue expression
- 15 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 15 nTPM
- fallopian tube: 14 nTPM
- heart muscle: 11 nTPM
- kidney: 3.9 nTPM
- lung: 2.2 nTPM
- testis: 1.9 nTPM
Single-cell type
- neutrophils: 727 nCPM
- respiratory ciliated cells: 250 nCPM
- choroid plexus epithelial cells: 193 nCPM
- monocyte progenitors: 192 nCPM
- neutrophil progenitors: 174 nCPM
- monocytes: 155 nCPM
Immune cell
- eosinophil: 2.8 nTPM
- neutrophil: 1.1 nTPM
- basophil: 0.9 nTPM
- classical monocyte: 0.8 nTPM
- non-classical monocyte: 0.7 nTPM
- intermediate monocyte: 0.6 nTPM
Brain region
- choroid plexus: 47 nTPM
- spinal cord: 5.8 nTPM
- medulla oblongata: 5.6 nTPM
- midbrain: 5.4 nTPM
- thalamus: 4 nTPM
- hippocampal formation: 3.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCNE1.
Disease | AllUniProt
Conditions KCNE1 is implicated in, by any mechanism.
- Jervell and Lange-Nielsen syndrome 2 (JLNS2) MIM:612347
- Long QT syndrome 5 (LQT5) MIM:613695
Disease | GeneticClinVar
21 pathogenic / likely-pathogenic of 1,260 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Long QT syndrome
- Long QT syndrome 5
- Jervell and Lange-Nielsen syndrome 2
- Congenital long QT syndrome
- Cardiovascular phenotype
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)
- 1.93
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.62
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cardiac muscle cell action potential involved in contraction
- cardiac muscle cell contraction
- cellular response to cAMP
- epithelial cell maturation
- membrane repolarization
- membrane repolarization during action potential
- membrane repolarization during cardiac muscle cell action potential
- membrane repolarization during ventricular cardiac muscle cell action potential
- negative regulation of delayed rectifier potassium channel activity
- negative regulation of protein targeting to membrane
- positive regulation of potassium ion transmembrane transport
- potassium ion export across plasma membrane
- potassium ion transmembrane transport
- regulation of heart rate by cardiac conduction
- regulation of membrane potential
- regulation of potassium ion transmembrane transport
- regulation of potassium ion transport
- regulation of ventricular cardiac muscle cell membrane repolarization
- secretory granule organization
- sensory perception of sound
- ventricular cardiac muscle cell action potential
- vestibular nucleus development
Molecular functions
- delayed rectifier potassium channel activity
- potassium channel regulator activity
- telethonin binding
- transmembrane transporter binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Potassium channel, voltage-dependent, beta subunit, KCNE
- Slow voltage-gated potassium channel
- Potassium voltage-gated channel subfamily E member 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KCNE1 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 KCNE1 as an antibody target. Whether an autoantibody or antibody against KCNE1 could matter depends on whether native KCNE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNE1 is annotated at the cell surface, where native KCNE1 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 KCNE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...