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Aliases for KCNE1 Gene

Aliases for KCNE1 Gene

  • Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1 2 3 5
  • Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 1 2 3
  • IKs Producing Slow Voltage-Gated Potassium Channel Subunit Beta Mink 3 4
  • Potassium Voltage-Gated Channel, Isk-Related Family, Member 1 2 3
  • Delayed Rectifier Potassium Channel Subunit IsK 3 4
  • Minimal Potassium Channel 3 4
  • Potassium Voltage-Gated Channel, Isk-Related Subfamily, Member 1 3
  • Potassium Voltage-Gated Channel Subfamily E Member 1 3
  • Cardiac Delayed Rectifier Potassium Channel Protein 3
  • Voltage Gated Potassiun Channel Accessory Subunit 3
  • LQT2/5 3
  • JLNS2 3
  • JLNS 3
  • LQT5 3
  • MinK 3
  • ISK 3

External Ids for KCNE1 Gene

Previous GeneCards Identifiers for KCNE1 Gene

  • GC21M032398
  • GC21M034739
  • GC21M034741
  • GC21M034743
  • GC21M035818
  • GC21M021297

Summaries for KCNE1 Gene

Entrez Gene Summary for KCNE1 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]

GeneCards Summary for KCNE1 Gene

KCNE1 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with KCNE1 include Long Qt Syndrome 5 and Jervell And Lange-Nielsen Syndrome 2. Among its related pathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. GO annotations related to this gene include voltage-gated potassium channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNE1B.

UniProtKB/Swiss-Prot for KCNE1 Gene

  • Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:19219384). Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).

Tocris Summary for KCNE1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNE1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNE1 Gene

Genomics for KCNE1 Gene

Regulatory Elements for KCNE1 Gene

Enhancers for KCNE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around KCNE1 on UCSC Golden Path with GeneCards custom track

Promoters for KCNE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNE1 Gene

Chromosome:
21
Start:
34,418,715 bp from pter
End:
34,512,275 bp from pter
Size:
93,561 bases
Orientation:
Minus strand

Genomic View for KCNE1 Gene

Genes around KCNE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNE1 Gene

Proteins for KCNE1 Gene

  • Protein details for KCNE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15382-KCNE1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily E member 1
    Protein Accession:
    P15382
    Secondary Accessions:
    • A5H1P2
    • Q8N709
    • Q91Z94

    Protein attributes for KCNE1 Gene

    Size:
    129 amino acids
    Molecular mass:
    14675 Da
    Quaternary structure:
    • Interacts with KCNB1. Interacts with KCNC2 (By similarity). Associates with KCNH2/HERG (PubMed:9230439). Interacts with KNCQ1; targets the complex KNCQ1-KCNE1 to the membrane raft (PubMed:20533308).
    SequenceCaution:
    • Sequence=AAH36452.1; Type=Erroneous termination; Positions=106; Note=Translated as Cys.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KCNE1 Gene

neXtProt entry for KCNE1 Gene

Post-translational modifications for KCNE1 Gene

  • N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5.
  • Phosphorylation inhibits the potassium current.
  • Glycosylation at Asn 5, Thr 7, and Asn 26
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNE1 Gene

Domains & Families for KCNE1 Gene

Graphical View of Domain Structure for InterPro Entry

P15382

UniProtKB/Swiss-Prot:

KCNE1_HUMAN :
  • Belongs to the potassium channel KCNE family.
Family:
  • Belongs to the potassium channel KCNE family.
genes like me logo Genes that share domains with KCNE1: view

Function for KCNE1 Gene

Molecular function for KCNE1 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Isk-related subfamily,member 1,widely expressed,associating with KCNQ1 to generate the slow delayed IKS channel,also associating with KCNH2 (HERG) to modulate the rapid delayed rectifier IKJ channel,central to the control of the heart rate and rhythm
UniProtKB/Swiss-Prot Function:
Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:19219384). Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).

Gene Ontology (GO) - Molecular Function for KCNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005249 contributes_to voltage-gated potassium channel activity IDA 17289006
GO:0005251 contributes_to delayed rectifier potassium channel activity IDA 8900283
GO:0005515 protein binding IPI 11101505
GO:0015459 potassium channel regulator activity IDA 8900283
GO:0031433 telethonin binding IPI 11697903
genes like me logo Genes that share ontologies with KCNE1: view
genes like me logo Genes that share phenotypes with KCNE1: view

Human Phenotype Ontology for KCNE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for KCNE1 Gene

miRTarBase miRNAs that target KCNE1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KCNE1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNE1 Gene

Localization for KCNE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNE1 Gene

Cell membrane; Single-pass type I membrane protein. Apical cell membrane. Membrane raft. Note=Colocalizes with KCNB1 at the plasma membrane (By similarity). Targets to the membrane raft when associated with KNCQ1 (PubMed:20533308). {ECO:0000250 UniProtKB:P15383, ECO:0000269 PubMed:20533308}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNE1 Gene COMPARTMENTS Subcellular localization image for KCNE1 gene
Compartment Confidence
lysosome 5
plasma membrane 5
vacuole 5
extracellular 3
mitochondrion 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for KCNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 16780588
GO:0005886 plasma membrane TAS --
GO:0008076 colocalizes_with voltage-gated potassium channel complex IDA 19219384
GO:0009986 cell surface IDA 10400998
GO:0016324 apical plasma membrane ISS --
genes like me logo Genes that share ontologies with KCNE1: view

Pathways & Interactions for KCNE1 Gene

genes like me logo Genes that share pathways with KCNE1: view

Pathways by source for KCNE1 Gene

Gene Ontology (GO) - Biological Process for KCNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006487 protein N-linked glycosylation IDA 21669976
GO:0006493 protein O-linked glycosylation IDA 21669976
GO:0007605 sensory perception of sound TAS 9020846
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP 9354802
GO:0061337 cardiac conduction TAS --
genes like me logo Genes that share ontologies with KCNE1: view

No data available for SIGNOR curated interactions for KCNE1 Gene

Drugs & Compounds for KCNE1 Gene

(20) Drugs for KCNE1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Indapamide Approved Pharma blocker, Target, inhibitor 23
Potassium Approved Pharma 0
amiodarone Approved, Investigational Pharma Pore Blocker 118
Quinidine Approved Pharma Pore Blocker 44
Sotalol Approved Pharma 39

(6) Additional Compounds for KCNE1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNE1 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker 504-24-5
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 113559-13-0
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9

(2) ApexBio Compounds for KCNE1 Gene

Compound Action Cas Number
Gliquidone 33342-05-1
Tolbutamide CAMP inhibitor 64-77-7
genes like me logo Genes that share compounds with KCNE1: view

Transcripts for KCNE1 Gene

Unigene Clusters for KCNE1 Gene

Potassium voltage-gated channel, Isk-related family, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KCNE1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNE1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: - - - - -
SP2: - - - - -
SP3: - -
SP4:
SP5: -
SP6: -
SP7: - - - - - -

Relevant External Links for KCNE1 Gene

GeneLoc Exon Structure for
KCNE1
ECgene alternative splicing isoforms for
KCNE1

Expression for KCNE1 Gene

mRNA expression in normal human tissues for KCNE1 Gene

mRNA differential expression in normal tissues according to GTEx for KCNE1 Gene

This gene is overexpressed in Whole Blood (x25.0).

NURSA nuclear receptor signaling pathways regulating expression of KCNE1 Gene:

KCNE1

SOURCE GeneReport for Unigene cluster for KCNE1 Gene:

Hs.121495

mRNA Expression by UniProt/SwissProt for KCNE1 Gene:

P15382-KCNE1_HUMAN
Tissue specificity: Expressed in lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Expressed in the heart (PubMed:19219384). Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane portion of epithelial cells.
genes like me logo Genes that share expression patterns with KCNE1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KCNE1 Gene

Orthologs for KCNE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNE1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNE1 35
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNE1 35
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNE1 35
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcne1 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNE1 35
  • 61 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNE1 35
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNE1 35
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNE1 35
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AL807829.1 35
  • 28 (a)
OneToOne
Species where no ortholog for KCNE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNE1 Gene

ENSEMBL:
Gene Tree for KCNE1 (if available)
TreeFam:
Gene Tree for KCNE1 (if available)

Paralogs for KCNE1 Gene

Paralogs for KCNE1 Gene

(2) SIMAP similar genes for KCNE1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with KCNE1: view

Variants for KCNE1 Gene

Sequence variations from dbSNP and Humsavar for KCNE1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1805127 - 34,449,523(-) GCAGC(A/G)GTGAC intron-variant, reference, missense
rs28933384 Jervell and Lange-Nielsen syndrome 2 (JLNS2) 34,449,615(-) CACCA(C/T)AGCGG intron-variant, reference, missense
rs199473353 Jervell and Lange-Nielsen syndrome 2 (JLNS2) 34,449,496(-) TCTAC(A/G/T)TCCTC intron-variant, reference, missense
VAR_008899 Jervell and Lange-Nielsen syndrome 2 (JLNS2)
rs74315446 Long QT syndrome 5 (LQT5) 34,449,414(-) GCACT(C/T)GAACG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KCNE1 Gene

Variant ID Type Subtype PubMed ID
dgv4426n100 CNV gain 25217958
dgv7824n54 CNV gain 21841781
esv2762109 CNV gain 21179565
esv3575386 CNV gain 25503493
esv3646922 CNV loss 21293372
nsv1055429 CNV gain 25217958
nsv475557 CNV novel sequence insertion 20440878
nsv478086 CNV novel sequence insertion 20440878
nsv521323 CNV gain 19592680

Variation tolerance for KCNE1 Gene

Residual Variation Intolerance Score: 71.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNE1 Gene

Human Gene Mutation Database (HGMD)
KCNE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNE1 Gene

Disorders for KCNE1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for KCNE1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 5
  • lqt5
jervell and lange-nielsen syndrome 2
  • surdo-cardiac syndrome
long qt syndrome
  • long q-t syndrome
familial long qt syndrome
  • congenital long qt syndrome
jervell and lange-nielsen syndrome
  • jervell-lange nielsen syndrome
- elite association - COSMIC cancer census association via MalaCards
Search KCNE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNE1_HUMAN
  • Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347]: An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. {ECO:0000269 PubMed:10400998, ECO:0000269 PubMed:9328483, ECO:0000269 PubMed:9354783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Long QT syndrome 5 (LQT5) [MIM:613695]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:10400998, ECO:0000269 PubMed:10973849, ECO:0000269 PubMed:11692163, ECO:0000269 PubMed:16414944, ECO:0000269 PubMed:19716085, ECO:0000269 PubMed:9354802, ECO:0000269 PubMed:9445165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNE1

Genetic Association Database (GAD)
KCNE1
Human Genome Epidemiology (HuGE) Navigator
KCNE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNE1
genes like me logo Genes that share disorders with KCNE1: view

No data available for Genatlas for KCNE1 Gene

Publications for KCNE1 Gene

  1. A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype. (PMID: 11692163) Schulze-Bahr E. … Breithardt G. (J. Mol. Med. 2001) 3 4 22 46 65
  2. S38G single-nucleotide polymorphism at the KCNE1 locus is associated with heart failure. (PMID: 20185111) Fatini C. … Gensini G.F. (Heart Rhythm 2010) 3 22 46 65
  3. Regulation of the Kv2.1 potassium channel by MinK and MiRP1. (PMID: 19219384) McCrossan Z.A. … Abbott G.W. (J. Membr. Biol. 2009) 3 4 22 65
  4. A genotype-dependent intermediate ECG phenotype in patients with persistent lone atrial fibrillation genotype ECG-phenotype correlation in atrial fibrillation. (PMID: 19305639) Husser D. … Bollmann A. (Circ Arrhythm Electrophysiol 2009) 3 22 46 65
  5. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. (PMID: 19716085) Kapplinger J.D. … Ackerman M.J. (Heart Rhythm 2009) 3 4 46 65

Products for KCNE1 Gene

Sources for KCNE1 Gene

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