Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, 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
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 voltage-gated channel, KQT-like subfamily, member 1
GeneCards (Weizmann)KCNQ1
Ensembl (Hinxton)ENSG00000053918 [Gene_View]  chr11:2466221-2870340 [Contig_View]  KCNQ1 [Vega]
ICGC DataPortalENSG00000053918
cBioPortalKCNQ1
AceView (NCBI)KCNQ1
Genatlas (Paris)KCNQ1
WikiGenes3784
SOURCE (Princeton)NM_000218 NM_181797 NM_181798
Genomic and cartography
GoldenPath (UCSC)KCNQ1  -  11p15.5   chr11:2466221-2870340 +  11p15.5   [Description]    (hg19-Feb_2009)
EnsemblKCNQ1 - 11p15.5 [CytoView]
Mapping of homologs : NCBIKCNQ1 [Mapview]
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)AC_000143 NC_000011 NC_018922 NG_008935 NT_009237 NT_187585 NW_001838018 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51787 (Uniprot)
NextProtP51787  [Medical]
With graphics : InterProP51787
Splice isoforms : SwissVarP51787 (Swissvar)
Domains : Interpro (EBI)Ion_trans_dom [organisation]   K_chnl [organisation]   K_chnl_volt-dep_KCNQ [organisation]   K_chnl_volt-dep_KCNQ_C [organisation]   K_chnl_volt-dep_KCQN1 [organisation]   VG_K_chnl [organisation]  
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   
PDB (PDBSum)3BJ4    3HFC    3HFE   
PDB (IMB)3BJ4    3HFC    3HFE   
PDB (RSDB)3BJ4    3HFC    3HFE   
Human Protein AtlasENSG00000053918 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP51787
HPRD06341
IPIIPI00020502   IPI00790656   IPI01025040   IPI00984423   IPI00382863   
Protein Interaction databases
DIP (DOE-UCLA)P51787
IntAct (EBI)P51787
FunCoupENSG00000053918
BioGRIDKCNQ1
InParanoidP51787
Interologous Interaction database P51787
IntegromeDBKCNQ1
STRING (EMBL)KCNQ1
Ontologies - Pathways
Ontology : AmiGOvoltage-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  male gonad development  outward rectifier potassium channel activity  basolateral plasma membrane  gene silencing  protein kinase A catalytic subunit binding  protein kinase A regulatory subunit binding  cellular response to drug  sarcolemma  zymogen granule membrane  protein homodimerization activity  ion channel binding  negative regulation of insulin secretion  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 gastric acid secretion  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  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  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  male gonad development  outward rectifier potassium channel activity  basolateral plasma membrane  gene silencing  protein kinase A catalytic subunit binding  protein kinase A regulatory subunit binding  cellular response to drug  sarcolemma  zymogen granule membrane  protein homodimerization activity  ion channel binding  negative regulation of insulin secretion  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 gastric acid secretion  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  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
Wikipedia pathwaysKCNQ1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)KCNQ1
snp3D : Map Gene to Disease3784
SNP (GeneSNP Utah)KCNQ1
SNP : HGBaseKCNQ1
Genetic variants : HAPMAPKCNQ1
Exome VariantKCNQ1
1000_GenomesKCNQ1 
ICGC programENSG00000053918 
Somatic Mutations in Cancer : COSMICKCNQ1 
CONAN: Copy Number AnalysisKCNQ1 
Mutations and Diseases : HGMDKCNQ1
Genomic VariantsKCNQ1  KCNQ1 [DGVbeta]
dbVarKCNQ1
ClinVarKCNQ1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM130650    192500    220400    607542    607554    609621   
MedgenKCNQ1
GENETestsKCNQ1
Disease Genetic AssociationKCNQ1
Huge Navigator KCNQ1 [HugePedia]  KCNQ1 [HugeCancerGEM]
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
PubMed397 Pubmed reference(s) in Entrez
CoreMineKCNQ1
iHOPKCNQ1
OncoSearchKCNQ1
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:00:49 CEST 2014

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