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
Entrez_Gene (NCBI)KCNQ1  3784  potassium voltage-gated channel, KQT-like subfamily, member 1
Cards
GeneCards (Weizmann)KCNQ1
Ensembl (Hinxton)ENSG00000053918 [Gene_View]  chr11:2466221-2870340 [Contig_View]  KCNQ1 [Vega]
AceView (NCBI)KCNQ1
Genatlas (Paris)KCNQ1
SOURCE (Stanford)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]
OMIM192500   220400   607542   607554   609621   
Gene and transcription
Genbank (Entrez)AF000571 AF003743 AF051426 AI439544 AI473902
RefSeq transcript (SRS)NM_000218 NM_181797 NM_181798
RefSeq transcript (Entrez)NM_000218 NM_181797 NM_181798
RefSeq genomic (SRS)AC_000143 NC_000011 NC_018922 NG_008935 NT_009237 NW_001838018 NW_004078070
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_008935 NT_009237 NW_001838018 NW_004078070
Consensus coding sequences : CCDS (NCBI)KCNQ1
Cluster EST : UnigeneHs.95162 [ SRS ] Hs.95162 [ NCBI ]
CGAP (NCI)Hs.95162
Alternative Splicing : Fast-db (Paris)GSHG0004544
Alternative Splicing GalleryENSG00000053918
Gene ExpressionKCNQ1 [ NCBI-GEO ]   KCNQ1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51787 (SRS) P51787 (Uniprot)
NextProtP51787
With graphics : InterProP51787
Splice isoforms : SwissVarP51787(Swissvar)
Domains : Interpro (SRS)Ion_trans_dom    K_chnl    K_chnl_volt-dep_KCNQ    K_chnl_volt-dep_KCNQ_C    K_chnl_volt-dep_KCQN1   
Domains : Interpro (EBI)Ion_trans_dom    K_chnl    K_chnl_volt-dep_KCNQ    K_chnl_volt-dep_KCNQ_C    K_chnl_volt-dep_KCQN1   
Related proteins : CluSTrP51787
Domain families : Pfam (SRS)Ion_trans (PF00520)    KCNQ_channel (PF03520)   
Domain families : Pfam (Sanger)Ion_trans (PF00520)    KCNQ_channel (PF03520)   
Domain families : Pfam (NCBI)pfam00520    pfam03520   
DMDM3784
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
HPRD06341
IPIIPI00020502   IPI00790656   IPI01025040   IPI00984423   IPI00382863   
Protein Interaction databases
DIP (DOE-UCLA)P51787
IntAct (EBI)P51787
FunCoupENSG00000053918
REACTOMEKCNQ1
Protein Interaction Database3784
BioGRIDKCNQ1
InParanoidP51787
Interologous Interaction database P51787
IntegromeDBKCNQ1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)KCNQ1
SNP (GeneSNP Utah)KCNQ1
SNP : HGBaseKCNQ1
Genetic variants : HAPMAPKCNQ1
Somatic Mutations in Cancer : COSMICKCNQ1 
CONAN: Copy Number AnalysisKCNQ1 
Mutations and Diseases : HGMDKCNQ1
OMIM192500    220400    607542    607554    609621   
GENETests192500    220400    607542    607554    609621   
Disease Genetic AssociationKCNQ1
Huge Navigator KCNQ1 [HugePedia]  KCNQ1 [HugeCancerGEM]
Genomic VariantsKCNQ1  KCNQ1 [DGVbeta]
snp3D : Map Gene to Disease3784
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
Ontology : AmiGOvoltage-gated potassium channel activity  delayed rectifier potassium channel activity  calmodulin binding  lysosome  early endosome  late endosome  plasma membrane  regulation of gene expression by genetic imprinting  muscle contraction  synaptic transmission  sensory perception of sound  blood circulation  regulation of heart contraction  voltage-gated potassium channel complex  voltage-gated potassium channel complex  outward rectifier potassium channel activity  basolateral plasma membrane  gene silencing  response to chemical stimulus  sarcolemma  zymogen granule membrane  negative regulation of insulin secretion  regulation of membrane repolarization  potassium ion export  
Ontology : EGO-EBIvoltage-gated potassium channel activity  delayed rectifier potassium channel activity  calmodulin binding  lysosome  early endosome  late endosome  plasma membrane  regulation of gene expression by genetic imprinting  muscle contraction  synaptic transmission  sensory perception of sound  blood circulation  regulation of heart contraction  voltage-gated potassium channel complex  voltage-gated potassium channel complex  outward rectifier potassium channel activity  basolateral plasma membrane  gene silencing  response to chemical stimulus  sarcolemma  zymogen granule membrane  negative regulation of insulin secretion  regulation of membrane repolarization  potassium ion export  
Other databases
Probes
Litterature
PubMed337 Pubmed reference(s) in Entrez
PubGeneKCNQ1
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:39:07 CEST 2013
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