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Aliases for KCNE1 Gene

Aliases for KCNE1 Gene

  • Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1 2 3
  • Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 1 2 3 5
  • 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
  • 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 Antiarrhythmic Pathway, Pharmacodynamics and Cardiac conduction. 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

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

Proteomics data for KCNE1 Gene at MOPED

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

Antibody Products

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:0005515 protein binding IPI 11101505
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

miRNA for KCNE1 Gene

miRTarBase miRNAs that target KCNE1

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:0005886 plasma membrane IDA,TAS --
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:0006811 ion transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Indapamide Approved Pharma blocker, Target, inhibitor 22
Gliquidone Approved Pharma 5
Tolbutamide Approved Pharma Inhibitor CAMP inhibitor 21
Indomethacin Approved, Investigational Pharma Partial agonist, Agonist, inhibitor Cox inhibitor 106
Potassium Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4
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:

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).

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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia KCNE1 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNE1 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNE1 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcne1 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNE1 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNE1 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNE1 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNE1 36
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AL807829.1 36
  • 28 (a)
OneToOne
Species with no ortholog for KCNE1:
  • 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
VAR_008898 Jervell and Lange-Nielsen syndrome 2 (JLNS2)
VAR_008899 Jervell and Lange-Nielsen syndrome 2 (JLNS2)
VAR_008900 Long QT syndrome 5 (LQT5)

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

Variant ID Type Subtype PubMed ID
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

HapMap Linkage Disequilibrium report
KCNE1
Human Gene Mutation Database (HGMD)
KCNE1

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

Disorders for KCNE1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
long qt syndrome 5
  • long qt syndrome-5
jervell and lange-nielsen syndrome 2
  • jervell-lange nielsen syndrome
familial long qt syndrome
  • congenital long qt syndrome
jervell and lange-nielsen syndrome
  • jervell-lange nielsen syndrome
long qt syndrome
  • long q-t 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. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. (PMID: 16414944) Napolitano C. … Leonardi S. (JAMA 2005) 3 4 48 67
  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 23
  3. Identification of a protein-protein interaction between KCNE1 and the activation gate machinery of KCNQ1. (PMID: 20479109) Lvov A. … Kobertz W.R. (J. Gen. Physiol. 2010) 3 23
  4. MinK-dependent internalization of the IKs potassium channel. (PMID: 19202166) Xu X. … Abbott G.W. (Cardiovasc. Res. 2009) 3 23
  5. Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes. (PMID: 19660109) Herlyn H. … Haaf T. (BMC Evol. Biol. 2009) 3 23

Products for KCNE1 Gene

Sources for KCNE1 Gene

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