Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3784
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium voltage-gated channel subfamily Q member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNQ1
Synonyms (NCBI Gene) Gene synonyms aliases
ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ATFB3, JLNS1, LQT1, SQT2, WRS
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5-p15.4
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs179489 G>A,C Not-provided, pathogenic Missense variant, coding sequence variant
rs1800171 G>A,C,T Likely-pathogenic, pathogenic Synonymous variant, coding sequence variant
rs12720457 G>T Benign, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs12720458 A>G Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs12720459 C>A,G,T Pathogenic, not-provided Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002925 hsa-miR-133a-3p Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR 17443681
MIRT002925 hsa-miR-133a-3p Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR 17443681
MIRT002925 hsa-miR-133a-3p Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR 17443681
MIRT002925 hsa-miR-133a-3p Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR 17443681
MIRT002925 hsa-miR-133a-3p Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR 17443681
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005249 Function Voltage-gated potassium channel activity IBA 21873635
GO:0005249 Function Voltage-gated potassium channel activity IDA 8900283, 17289006, 24855057
GO:0005249 Function Voltage-gated potassium channel activity IDA 16002409
GO:0005251 Function Delayed rectifier potassium channel activity IBA 21873635
GO:0005251 Function Delayed rectifier potassium channel activity IDA 12522251, 24184248, 24269949, 25037568
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607542 6294 ENSG00000053918
Protein
UniProt ID P51787
Protein name Potassium voltage-gated channel subfamily KQT member 1 (IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1) (KQT-like 1) (Voltage-gated potassium channel subunit Kv7.1)
Protein function Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of cardiomyocyte excitability and important in normal development and functions of myocardium, inner ear, stomach and colon (PubMed:10646604, PubMed:2544
PDB 3BJ4 , 3HFC , 3HFE , 4UMO , 4V0C , 6MIE , 6UZZ , 6V00 , 6V01 , 7VUO , 7VVD , 7VVH , 7XNI , 7XNK , 7XNL , 7XNN , 8SIK , 8SIM , 8SIN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 122 359 Ion transport protein Family
PF03520 KCNQ_channel 482 620 KCNQ voltage-gated potassium channel Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries.
Sequence
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPG
PAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGW
KCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGC
RSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYA
DALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQ
R
QKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKK
KKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFM
RTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRD
VIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVT
QLDQRLALITDMLHQLLSLH
GGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLP
TYEQLTVPRRGPDEGS
Sequence length 676
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Short QT Syndrome short QT syndrome type 2, short QT syndrome GenCC
Atrial Fibrillation familial atrial fibrillation, atrial fibrillation, familial, 3 GenCC
Jervell-Lange Nielsen Syndrome Jervell and Lange-Nielsen syndrome GenCC
Long QT Syndrome long QT syndrome 1, long QT syndrome, Long QT Syndrome GenCC, GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 21138517
Adenocarcinoma of Lung Associate 34111567, 35216393
Andersen Syndrome Associate 18452873
Arrhythmias Cardiac Associate 12442276, 12702160, 17905416, 17999538, 18093912, 18192214, 18308161, 18365896, 18426444, 19822806, 21952006, 22508963, 24769622, 27707468, 28814790
View all (11 more)
Arrhythmias Cardiac Inhibit 18426444
Arrhythmogenic Right Ventricular Dysplasia Associate 25616976
Ataxia Telangiectasia Associate 32443288
Atrial Fibrillation Associate 17276182, 17999538, 18452873, 19632626, 19646991, 20850564, 22471742, 22508963, 22818067, 23350853, 23710137, 24460807, 26922794, 29488358, 32164657
View all (4 more)
Attention Deficit Disorder with Hyperactivity Associate 34142889
Autosomal Recessive Primary Microcephaly Associate 32048431