Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNQ1 (potassium channel, voltage gated KQT-like subfamily Q, member 1)

Identity

Other namesATFB1
ATFB3
JLNS1
KCNA8
KCNA9
KVLQT1
Kv1.9
Kv7.1
LQT
LQT1
RWS
SQT2
WRS
HGNC (Hugo) KCNQ1
LocusID (NCBI) 3784
Atlas_Id 41051
Location 11p15.5
Location_base_pair Starts at 2466221 and ends at 2870340 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)KCNQ1   6294
Cards
Entrez_Gene (NCBI)KCNQ1  3784  potassium channel, voltage gated KQT-like subfamily Q, member 1
GeneCards (Weizmann)KCNQ1
Ensembl hg19 (Hinxton)ENSG00000053918 [Gene_View]  chr11:2466221-2870340 [Contig_View]  KCNQ1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000053918 [Gene_View]  chr11:2466221-2870340 [Contig_View]  KCNQ1 [Vega]
ICGC DataPortalENSG00000053918
TCGA cBioPortalKCNQ1
AceView (NCBI)KCNQ1
Genatlas (Paris)KCNQ1
WikiGenes3784
SOURCE (Princeton)KCNQ1
Genomic and cartography
GoldenPath hg19 (UCSC)KCNQ1  -     chr11:2466221-2870340 +  11p15.5   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KCNQ1  -     11p15.5   [Description]    (hg38-Dec_2013)
EnsemblKCNQ1 - 11p15.5 [CytoView hg19]  KCNQ1 - 11p15.5 [CytoView hg38]
Mapping of homologs : NCBIKCNQ1 [Mapview hg19]  KCNQ1 [Mapview hg38]
OMIM130650   192500   220400   607542   607554   609621   
Gene and transcription
Genbank (Entrez)AF000571 AF003743 AF051426 AI439544 AI473902
RefSeq transcript (Entrez)NM_000218 NM_181797 NM_181798
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_008935 NT_009237 NT_187585 NW_004929378
Consensus coding sequences : CCDS (NCBI)KCNQ1
Cluster EST : UnigeneHs.95162 [ NCBI ]
CGAP (NCI)Hs.95162
Alternative Splicing : Fast-db (Paris)GSHG0004544
Alternative Splicing GalleryENSG00000053918
Gene ExpressionKCNQ1 [ NCBI-GEO ]     KCNQ1 [ SEEK ]   KCNQ1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51787 (Uniprot)
NextProtP51787  [Medical]
With graphics : InterProP51787
Splice isoforms : SwissVarP51787 (Swissvar)
Domains : Interpro (EBI)Ion_trans_dom    K_chnl    K_chnl_volt-dep_KCNQ    K_chnl_volt-dep_KCNQ_C    K_chnl_volt-dep_KCQN1    VG_K_chnl   
Related proteins : CluSTrP51787
Domain families : Pfam (Sanger)Ion_trans (PF00520)    KCNQ_channel (PF03520)   
Domain families : Pfam (NCBI)pfam00520    pfam03520   
DMDM Disease mutations3784
Blocks (Seattle)P51787
PDB (SRS)3BJ4    3HFC    3HFE    4UMO    4V0C   
PDB (PDBSum)3BJ4    3HFC    3HFE    4UMO    4V0C   
PDB (IMB)3BJ4    3HFC    3HFE    4UMO    4V0C   
PDB (RSDB)3BJ4    3HFC    3HFE    4UMO    4V0C   
Human Protein AtlasENSG00000053918
Peptide AtlasP51787
HPRD06341
IPIIPI00020502   IPI00790656   IPI01025040   IPI00984423   IPI00382863   
Protein Interaction databases
DIP (DOE-UCLA)P51787
IntAct (EBI)P51787
FunCoupENSG00000053918
BioGRIDKCNQ1
IntegromeDBKCNQ1
STRING (EMBL)KCNQ1
Ontologies - Pathways
QuickGOP51787
Ontology : AmiGOvoltage-gated potassium channel activity  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  calmodulin binding  lysosome  early endosome  late endosome  plasma membrane  regulation of gene expression by genetic imprinting  synaptic transmission  sensory perception of sound  regulation of heart contraction  voltage-gated potassium channel complex  voltage-gated potassium channel complex  protein phosphatase 1 binding  positive regulation of heart rate  basolateral plasma membrane  gene silencing  cytoplasmic vesicle membrane  protein kinase A catalytic subunit binding  protein kinase A regulatory subunit binding  cellular response to drug  ion channel binding  cardiac muscle contraction  regulation of membrane repolarization  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of atrial cardiac muscle cell membrane repolarization  positive regulation of cardiac muscle contraction  cellular response to cAMP  cellular response to cAMP  potassium ion export  potassium ion transmembrane transport  cellular response to epinephrine stimulus  cardiovascular system development  ventricular cardiac muscle cell action potential  voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization  membrane repolarization during action potential  membrane repolarization during cardiac muscle cell action potential  membrane repolarization during cardiac muscle cell action potential  atrial cardiac muscle cell action potential  voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization  regulation of heart rate by cardiac conduction  scaffold protein binding  potassium ion export across plasma membrane  positive regulation of potassium ion transmembrane transport  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  
Ontology : EGO-EBIvoltage-gated potassium channel activity  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  calmodulin binding  lysosome  early endosome  late endosome  plasma membrane  regulation of gene expression by genetic imprinting  synaptic transmission  sensory perception of sound  regulation of heart contraction  voltage-gated potassium channel complex  voltage-gated potassium channel complex  protein phosphatase 1 binding  positive regulation of heart rate  basolateral plasma membrane  gene silencing  cytoplasmic vesicle membrane  protein kinase A catalytic subunit binding  protein kinase A regulatory subunit binding  cellular response to drug  ion channel binding  cardiac muscle contraction  regulation of membrane repolarization  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of atrial cardiac muscle cell membrane repolarization  positive regulation of cardiac muscle contraction  cellular response to cAMP  cellular response to cAMP  potassium ion export  potassium ion transmembrane transport  cellular response to epinephrine stimulus  cardiovascular system development  ventricular cardiac muscle cell action potential  voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization  membrane repolarization during action potential  membrane repolarization during cardiac muscle cell action potential  membrane repolarization during cardiac muscle cell action potential  atrial cardiac muscle cell action potential  voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization  regulation of heart rate by cardiac conduction  scaffold protein binding  potassium ion export across plasma membrane  positive regulation of potassium ion transmembrane transport  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  
Pathways : KEGGAdrenergic signaling in cardiomyocytes    Cholinergic synapse    Gastric acid secretion    Pancreatic secretion    Protein digestion and absorption    Vibrio cholerae infection   
Protein Interaction DatabaseKCNQ1
DoCM (Curated mutations)KCNQ1
Wikipedia pathwaysKCNQ1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerKCNQ1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNQ1
dbVarKCNQ1
ClinVarKCNQ1
1000_GenomesKCNQ1 
Exome Variant ServerKCNQ1
SNP (GeneSNP Utah)KCNQ1
SNP : HGBaseKCNQ1
Genetic variants : HAPMAPKCNQ1
Genomic Variants (DGV)KCNQ1 [DGVbeta]
Mutations
ICGC Data PortalKCNQ1 
TCGA Data PortalKCNQ1 
Tumor PortalKCNQ1
Somatic Mutations in Cancer : COSMICKCNQ1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:2466221-2870340
CONAN: Copy Number AnalysisKCNQ1 
Mutations and Diseases : HGMDKCNQ1
OMIM130650    192500    220400    607542    607554    609621   
MedgenKCNQ1
NextProtP51787 [Medical]
GENETestsKCNQ1
Disease Genetic AssociationKCNQ1
Huge Navigator KCNQ1 [HugePedia]  KCNQ1 [HugeCancerGEM]
snp3D : Map Gene to Disease3784
DGIdb (Drug Gene Interaction db)KCNQ1
General knowledge
Homologs : HomoloGeneKCNQ1
Homology/Alignments : Family Browser (UCSC)KCNQ1
Phylogenetic Trees/Animal Genes : TreeFamKCNQ1
Chemical/Protein Interactions : CTD3784
Chemical/Pharm GKB GenePA223
Clinical trialKCNQ1
Cancer Resource (Charite)ENSG00000053918
Other databases
Probes
Litterature
PubMed422 Pubmed reference(s) in Entrez
CoreMineKCNQ1
GoPubMedKCNQ1
iHOPKCNQ1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 14:38:20 CEST 2015

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