Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)

Identity

Alias (NCBI)ISK
JLNS
JLNS2
LQT2/5
LQT5
MinK
HGNC (Hugo) KCNE1
HGNC Alias symbminK
ISK
JLNS2
LQT5
HGNC Previous namepotassium voltage-gated channel, Isk-related family, member 1
 potassium channel, voltage gated subfamily E regulatory beta subunit 1
LocusID (NCBI) 3753
Atlas_Id 46537
Location 21q22.12  [Link to chromosome band 21q22]
Location_base_pair Starts at 34446688 and ends at 34459938 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ALDH2 (12q24.12) / KCNE1 (21q22.12)DIP2A (21q22.3) / KCNE1 (21q22.12)RPS19BP1 (22q13.1) / KCNE1 (21q22.12)
RPS19BP1 22q13.1 / KCNE1 21q22.12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(21;22)(q22;q13) RPS19BP1/KCNE1

External links

Nomenclature
HGNC (Hugo)KCNE1   6240
LRG (Locus Reference Genomic)LRG_290
Cards
Entrez_Gene (NCBI)KCNE1  3753  potassium voltage-gated channel subfamily E regulatory subunit 1
AliasesISK; JLNS; JLNS2; LQT2/5; 
LQT5; MinK
GeneCards (Weizmann)KCNE1
Ensembl hg19 (Hinxton)ENSG00000180509 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180509 [Gene_View]  ENSG00000180509 [Sequence]  chr21:34446688-34459938 [Contig_View]  KCNE1 [Vega]
ICGC DataPortalENSG00000180509
TCGA cBioPortalKCNE1
AceView (NCBI)KCNE1
Genatlas (Paris)KCNE1
WikiGenes3753
SOURCE (Princeton)KCNE1
Genetics Home Reference (NIH)KCNE1
Genomic and cartography
GoldenPath hg38 (UCSC)KCNE1  -     chr21:34446688-34459938 -  21q22.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNE1  -     21q22.12   [Description]    (hg19-Feb_2009)
GoldenPathKCNE1 - 21q22.12 [CytoView hg19]  KCNE1 - 21q22.12 [CytoView hg38]
ImmunoBaseENSG00000180509
genome Data Viewer NCBIKCNE1 [Mapview hg19]  
OMIM176261   612347   613695   
Gene and transcription
Genbank (Entrez)AF135188 AI720140 AK095442 AK304336 AK311384
RefSeq transcript (Entrez)NM_000219 NM_001127668 NM_001127669 NM_001127670 NM_001270402 NM_001270403 NM_001270404 NM_001270405
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNE1
Alternative Splicing GalleryENSG00000180509
Gene ExpressionKCNE1 [ NCBI-GEO ]   KCNE1 [ EBI - ARRAY_EXPRESS ]   KCNE1 [ SEEK ]   KCNE1 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNE1 [ Firebrowse - Broad ]
GenevisibleExpression of KCNE1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3753
GTEX Portal (Tissue expression)KCNE1
Human Protein AtlasENSG00000180509-KCNE1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15382   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15382  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15382
Splice isoforms : SwissVarP15382
PhosPhoSitePlusP15382
Domains : Interpro (EBI)K_chnl_KCNE    K_chnl_volt-dep_bsu_KCNE1   
Domain families : Pfam (Sanger)ISK_Channel (PF02060)   
Domain families : Pfam (NCBI)pfam02060   
Conserved Domain (NCBI)KCNE1
DMDM Disease mutations3753
Blocks (Seattle)KCNE1
PDB (RSDB)2K21   
PDB Europe2K21   
PDB (PDBSum)2K21   
PDB (IMB)2K21   
Structural Biology KnowledgeBase2K21   
SCOP (Structural Classification of Proteins)2K21   
CATH (Classification of proteins structures)2K21   
SuperfamilyP15382
Human Protein Atlas [tissue]ENSG00000180509-KCNE1 [tissue]
Peptide AtlasP15382
HPRD01442
IPIIPI00305022   
Protein Interaction databases
DIP (DOE-UCLA)P15382
IntAct (EBI)P15382
FunCoupENSG00000180509
BioGRIDKCNE1
STRING (EMBL)KCNE1
ZODIACKCNE1
Ontologies - Pathways
QuickGOP15382
Ontology : AmiGOvoltage-gated potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  lysosome  plasma membrane  plasma membrane  plasma membrane  sensory perception of sound  voltage-gated potassium channel complex  voltage-gated potassium channel complex  voltage-gated potassium channel complex  voltage-gated potassium channel complex  cell surface  potassium channel regulator activity  potassium channel regulator activity  apical plasma membrane  Z disc  telethonin binding  ion channel binding  membrane raft  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  cardiac conduction  cellular response to cAMP  potassium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  ventricular cardiac muscle cell action potential  ventricular cardiac muscle cell action potential  voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization  membrane repolarization  membrane repolarization during action potential  membrane repolarization during action potential  membrane repolarization during cardiac muscle cell action potential  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  regulation of heart rate by cardiac conduction  negative regulation of protein targeting to membrane  potassium ion export across plasma membrane  potassium ion export across plasma membrane  membrane repolarization during ventricular cardiac muscle cell action potential  regulation of potassium ion transmembrane transport  positive regulation of potassium ion transmembrane transport  regulation of delayed rectifier potassium channel activity  negative regulation of delayed rectifier potassium channel activity  negative regulation of delayed rectifier potassium channel activity  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  
Ontology : EGO-EBIvoltage-gated potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  lysosome  plasma membrane  plasma membrane  plasma membrane  sensory perception of sound  voltage-gated potassium channel complex  voltage-gated potassium channel complex  voltage-gated potassium channel complex  voltage-gated potassium channel complex  cell surface  potassium channel regulator activity  potassium channel regulator activity  apical plasma membrane  Z disc  telethonin binding  ion channel binding  membrane raft  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  cardiac conduction  cellular response to cAMP  potassium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  ventricular cardiac muscle cell action potential  ventricular cardiac muscle cell action potential  voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization  membrane repolarization  membrane repolarization during action potential  membrane repolarization during action potential  membrane repolarization during cardiac muscle cell action potential  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  regulation of heart rate by cardiac conduction  negative regulation of protein targeting to membrane  potassium ion export across plasma membrane  potassium ion export across plasma membrane  membrane repolarization during ventricular cardiac muscle cell action potential  regulation of potassium ion transmembrane transport  positive regulation of potassium ion transmembrane transport  regulation of delayed rectifier potassium channel activity  negative regulation of delayed rectifier potassium channel activity  negative regulation of delayed rectifier potassium channel activity  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  
Pathways : KEGGAdrenergic signaling in cardiomyocytes   
NDEx NetworkKCNE1
Atlas of Cancer Signalling NetworkKCNE1
Wikipedia pathwaysKCNE1
Orthology - Evolution
OrthoDB3753
GeneTree (enSembl)ENSG00000180509
Phylogenetic Trees/Animal Genes : TreeFamKCNE1
HOGENOMP15382
Homologs : HomoloGeneKCNE1
Homology/Alignments : Family Browser (UCSC)KCNE1
Gene fusions - Rearrangements
Fusion : MitelmanRPS19BP1/KCNE1 [22q13.1/21q22.12]  
Fusion PortalRPS19BP1 22q13.1 KCNE1 21q22.12 BRCA
Fusion : QuiverKCNE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNE1
dbVarKCNE1
ClinVarKCNE1
1000_GenomesKCNE1 
Exome Variant ServerKCNE1
GNOMAD BrowserENSG00000180509
Varsome BrowserKCNE1
Genetic variants : HAPMAP3753
Genomic Variants (DGV)KCNE1 [DGVbeta]
DECIPHERKCNE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNE1 
Mutations
ICGC Data PortalKCNE1 
TCGA Data PortalKCNE1 
Broad Tumor PortalKCNE1
OASIS PortalKCNE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNE1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKCNE1
Mutations and Diseases : HGMDKCNE1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch KCNE1
DgiDB (Drug Gene Interaction Database)KCNE1
DoCM (Curated mutations)KCNE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNE1 (select a term)
intoGenKCNE1
Cancer3DKCNE1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176261    612347    613695   
Orphanet8592    12056    14727   
DisGeNETKCNE1
MedgenKCNE1
Genetic Testing Registry KCNE1
NextProtP15382 [Medical]
TSGene3753
GENETestsKCNE1
Target ValidationKCNE1
Huge Navigator KCNE1 [HugePedia]
snp3D : Map Gene to Disease3753
BioCentury BCIQKCNE1
ClinGenKCNE1
Clinical trials, drugs, therapy
Protein Interactions : CTD3753
Pharm GKB GenePA211
Clinical trialKCNE1
Miscellaneous
canSAR (ICR)KCNE1 (select the gene name)
HarmonizomeKCNE1
DataMed IndexKCNE1
Probes
Litterature
PubMed218 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNE1
EVEXKCNE1
GoPubMedKCNE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 16 15:18:52 CEST 2020
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