Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNE1 Gene

Aliases for KCNE1 Gene

  • 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
  • JLNS2 3 6
  • LQT5 3 6
  • JLNS 3 6
  • 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
  • MINK 3
  • ISK 3

External Ids for KCNE1 Gene

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 Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 1) is a Protein Coding gene. Diseases associated with KCNE1 include jervell and lange-nielsen syndrome 2 and long qt syndrome 5. Among its related pathways are Adrenergic signaling in cardiomyocytes and Antiarrhythmic Pathway, Pharmacodynamics. GO annotations related to this gene include voltage-gated potassium channel activity and potassium channel regulator activity.

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 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 pore-forming alpha-subunits contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

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

Genomic Location for KCNE1 Gene

Start:
34,446,688 bp from pter
End:
34,512,275 bp from pter
Size:
65,588 bases
Orientation:
Minus strand

Genomic View for KCNE1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNE1 Gene

Regulatory Elements 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:
    • Associates with KCNQ1/KVLQT1 and KCNH2/HERG
    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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn5, Thr7, and Asn26

No data available for DME Specific Peptides for KCNE1 Gene

Domains for KCNE1 Gene

Gene Families for KCNE1 Gene

HGNC:
  • KCN :Potassium channels

UniProtKB/Swiss-Prot:

KCNE1_HUMAN
Family:
  • Belongs to the potassium channel KCNE family.:
    • P15382
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 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 10400998
GO:0005515 protein binding IPI 11697903
GO:0015459 potassium channel regulator activity IDA 10400998
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

Animal Models for KCNE1 Gene

MGI Knock Outs for KCNE1:

miRNA for KCNE1 Gene

miRTarBase miRNAs that target KCNE1

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

Localization for KCNE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNE1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNE1 Gene COMPARTMENTS Subcellular localization image for KCNE1 gene
Compartment Confidence
lysosome 5
vacuole 5
plasma membrane 4
extracellular 2
mitochondrion 2
cytoskeleton 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 IDA 16780588
GO:0008076 voltage-gated potassium channel complex IDA 17289006
GO:0009986 cell surface IDA 10400998
GO:0016020 membrane --
genes like me logo Genes that share ontologies with KCNE1: view

Pathways for KCNE1 Gene

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

Pathways by source for KCNE1 Gene

1 Qiagen pathway for KCNE1 Gene
1 PharmGKB pathway for KCNE1 Gene
1 KEGG pathway 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 --
GO:0007605 sensory perception of sound TAS 9020846
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP 9354802
genes like me logo Genes that share ontologies with KCNE1: view

Compounds for KCNE1 Gene

(5) Tocris Compounds for KCNE1 Gene

Compound Action Cas Number
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
ICA 110381 KV7.2/7.3 activator; displays anticonvulsant properties [325457-99-6]
JNJ 303 Potent and selective IKs blocker [878489-28-2]
ShK-Dap22 Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro [220384-25-8]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]

(1) HMDB Compounds for KCNE1 Gene

Compound Synonyms Cas Number PubMed IDs
Potassium
  • K+
7440-09-7

(1) Drugbank Compounds for KCNE1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Indapamide
  • Indapamida [INN-Spanish]
26807-65-8 target inhibitor

(10) Novoseek inferred chemical compound relationships for KCNE1 Gene

Compound -log(P) Hits PubMed IDs
potassium 75.9 43
chromanol 69.6 3
chromanol 293b 68.9 1
sodium 41.7 12
nitric oxide 0 1
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 (25.0).

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 heart, lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. 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 expressions with KCNE1: view

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 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNE1 37
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNE1 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcne1 16
Kcne1 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNE1 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNE1 37
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNE1 37
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNE1 37
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AL807829.1 37
  • 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

Selected SIMAP similar genes for KCNE1 Gene using alignment to 6 proteins:

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

No data available for Paralogs for KCNE1 Gene

Variants for KCNE1 Gene

Sequence variations from dbSNP and Humsavar for KCNE1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs3453 -- 34,446,765(+) ATGCA(C/T)AGAGT utr-variant-3-prime
rs727957 -- 34,507,774(+) GGCAT(G/T)CTTCT intron-variant
rs915539 -- 34,456,772(+) CTTCC(A/C)GACAC intron-variant, upstream-variant-2KB
rs928740 -- 34,451,700(+) GAACT(C/G)TGGCT intron-variant
rs928741 -- 34,451,932(+) CCTCA(C/T)TGAGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv521323 CNV Gain 19592680

Relevant External Links for KCNE1 Gene

HapMap Linkage Disequilibrium report
KCNE1
Human Gene Mutation Database (HGMD)
KCNE1
Locus Specific Mutation Databases (LSDB)
KCNE1

Disorders for KCNE1 Gene

(2) OMIM Diseases for KCNE1 Gene (176261)

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:9354802, ECO:0000269 PubMed:9445165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(18) Novoseek inferred disease relationships for KCNE1 Gene

Disease -log(P) Hits PubMed IDs
romano-ward syndrome 94.8 13
long qt syndrome 94.5 26
death sudden 79.3 8
torsades de pointes 76.7 1
congenital deafness 75.9 4

Relevant External Links for KCNE1

GeneTests
KCNE1
GeneReviews
KCNE1
Genetic Association Database (GAD)
KCNE1
Human Genome Epidemiology (HuGE) Navigator
KCNE1
genes like me logo Genes that share disorders with KCNE1: view

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 23 49
  2. Association of the human minK gene 38G allele with atrial fibrillation: evidence of possible genetic control on the pathogenesis of atrial fibrillation. (PMID: 12228786) Lai L.P. … Huang S.K. (Am. Heart J. 2002) 3 23 49
  3. Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. (PMID: 10400998) Bianchi L. … Brown A.M. (Hum. Mol. Genet. 1999) 3 4 23
  4. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID: 10973849) Splawski I. … Keating M.T. (Circulation 2000) 3 4 23
  5. Polymorphism of the gene encoding a human minimal potassium ion channel (minK). (PMID: 7828904) Lai L.P. … Liang C.S. (Gene 1994) 3 4 23

Products for KCNE1 Gene

Sources for KCNE1 Gene

Back to Top

Content