Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNE1 (potassium voltage-gated channel, Isk-related family, member 1)

Identity

Other namesISK
JLNS
JLNS2
LQT2/5
LQT5
MinK
HGNC (Hugo) KCNE1
LocusID (NCBI) 3753
Location 21q22.12
Location_base_pair Starts at 35818986 and ends at 35884573 bp from pter ( according to hg19-Feb_2009)
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

 

External links

Nomenclature
HGNC (Hugo)KCNE1   6240
Cards
Entrez_Gene (NCBI)KCNE1  3753  potassium voltage-gated channel, Isk-related family, member 1
GeneCards (Weizmann)KCNE1
Ensembl (Hinxton)ENSG00000180509 [Gene_View]  chr21:35818986-35884573 [Contig_View]  KCNE1 [Vega]
ICGC DataPortalENSG00000180509
AceView (NCBI)KCNE1
Genatlas (Paris)KCNE1
WikiGenes3753
SOURCE (Princeton)NM_000219 NM_001127668 NM_001127669 NM_001127670 NM_001270402 NM_001270403 NM_001270404 NM_001270405
Genomic and cartography
GoldenPath (UCSC)KCNE1  -  21q22.12   chr21:35818986-35884573 -  21q22.12   [Description]    (hg19-Feb_2009)
EnsemblKCNE1 - 21q22.12 [CytoView]
Mapping of homologs : NCBIKCNE1 [Mapview]
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)AC_000153 NC_000021 NC_018932 NG_009091 NT_011512 NW_001838706 NW_004929426
Consensus coding sequences : CCDS (NCBI)KCNE1
Cluster EST : UnigeneHs.745384 [ NCBI ]
CGAP (NCI)Hs.745384
Alternative Splicing : Fast-db (Paris)GSHG0019667
Alternative Splicing GalleryENSG00000180509
Gene ExpressionKCNE1 [ NCBI-GEO ]     KCNE1 [ SEEK ]   KCNE1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15382 (Uniprot)
NextProtP15382  [Medical]
With graphics : InterProP15382
Splice isoforms : SwissVarP15382 (Swissvar)
Domains : Interpro (EBI)K_chnl_volt-dep_bsu_KCNE    K_chnl_volt-dep_bsu_KCNE1   
Related proteins : CluSTrP15382
Domain families : Pfam (Sanger)ISK_Channel (PF02060)   
Domain families : Pfam (NCBI)pfam02060   
DMDM Disease mutations3753
Blocks (Seattle)P15382
PDB (SRS)2K21   
PDB (PDBSum)2K21   
PDB (IMB)2K21   
PDB (RSDB)2K21   
Human Protein AtlasENSG00000180509
Peptide AtlasP15382
HPRD01442
IPIIPI00305022   
Protein Interaction databases
DIP (DOE-UCLA)P15382
IntAct (EBI)P15382
FunCoupENSG00000180509
BioGRIDKCNE1
IntegromeDBKCNE1
STRING (EMBL)KCNE1
Ontologies - Pathways
QuickGOP15382
Ontology : AmiGOepithelial cell maturation  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  protein binding  lysosome  endoplasmic reticulum  plasma membrane  protein N-linked glycosylation  protein O-linked glycosylation  sensory perception of sound  voltage-gated potassium channel complex  voltage-gated potassium channel complex  male gonad development  cell surface  potassium channel regulator activity  apical plasma membrane  Z disc  telethonin binding  protein heterodimerization activity  heart contraction  regulation of ventricular cardiac muscle cell membrane repolarization  cellular response to cAMP  potassium ion export  cellular response to acidity  potassium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  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 cardiac muscle cell action potential  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  negative regulation of protein targeting to membrane  regulation of potassium ion transmembrane transport  positive regulation of potassium ion transmembrane transport  regulation of delayed rectifier potassium channel activity  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  
Ontology : EGO-EBIepithelial cell maturation  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  protein binding  lysosome  endoplasmic reticulum  plasma membrane  protein N-linked glycosylation  protein O-linked glycosylation  sensory perception of sound  voltage-gated potassium channel complex  voltage-gated potassium channel complex  male gonad development  cell surface  potassium channel regulator activity  apical plasma membrane  Z disc  telethonin binding  protein heterodimerization activity  heart contraction  regulation of ventricular cardiac muscle cell membrane repolarization  cellular response to cAMP  potassium ion export  cellular response to acidity  potassium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  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 cardiac muscle cell action potential  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  negative regulation of protein targeting to membrane  regulation of potassium ion transmembrane transport  positive regulation of potassium ion transmembrane transport  regulation of delayed rectifier potassium channel activity  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  
Pathways : KEGGAdrenergic signaling in cardiomyocytes   
Protein Interaction DatabaseKCNE1
Wikipedia pathwaysKCNE1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)KCNE1
SNP (GeneSNP Utah)KCNE1
SNP : HGBaseKCNE1
Genetic variants : HAPMAPKCNE1
1000_GenomesKCNE1 
ICGC programENSG00000180509 
CONAN: Copy Number AnalysisKCNE1 
Somatic Mutations in Cancer : COSMICKCNE1 
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
DECIPHER (Syndromes)21:35818986-35884573
Mutations and Diseases : HGMDKCNE1
OMIM176261    612347    613695   
MedgenKCNE1
GENETestsKCNE1
Disease Genetic AssociationKCNE1
Huge Navigator KCNE1 [HugePedia]  KCNE1 [HugeCancerGEM]
Genomic VariantsKCNE1  KCNE1 [DGVbeta]
Exome VariantKCNE1
dbVarKCNE1
ClinVarKCNE1
snp3D : Map Gene to Disease3753
General knowledge
Homologs : HomoloGeneKCNE1
Homology/Alignments : Family Browser (UCSC)KCNE1
Phylogenetic Trees/Animal Genes : TreeFamKCNE1
Chemical/Protein Interactions : CTD3753
Chemical/Pharm GKB GenePA211
Clinical trialKCNE1
Cancer Resource (Charite)ENSG00000180509
Other databases
Probes
Litterature
PubMed166 Pubmed reference(s) in Entrez
CoreMineKCNE1
GoPubMedKCNE1
iHOPKCNE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:35:18 CET 2014

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