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Kcnq1
Gene Detail
Symbol

Name
ID
Kcnq1
potassium voltage-gated channel, subfamily Q, member 1
MGI:108083
Synonyms
Kcna9, KVLQT1
Feature Type
protein coding gene
Genetic Map
Chromosome 7
88.12 cM
Detailed Genetic Map ± 1 cM


Mapping data(20)
Sequence Map
Chr7:143106362-143427042 bp, + strand
From VEGA annotation of GRCm38

  320681 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:85014  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: KCNQ1
Protein SuperFamily: potassium voltage-gated channel, subfamily KQT
Gene Tree: Kcnq1

Human
homologs
KCNQ1, potassium channel, voltage gated KQT-like subfamily Q, member 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 3784
neXtProt AC: NX_P51787

Human Synonyms: ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, Kv1.9, Kv7.1, KVLQT1, LQT, LQT1, RWS, SQT2, WRS

Human Chr (Location): 11p15.5; chr11:2444991-2849110 (+)  GRCh38.p2

Disease Associations: (5) Diseases Associated with Human KCNQ1

Mutations,
alleles, and
phenotypes
All mutations/alleles(25) : Chemically induced (ENU)(2) Gene trapped(9) Spontaneous(3) Targeted(8) Transgenic(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous targeted null or spontaneous mutants show circling and head-tossing behavior and are deaf with inner ear dysmorphology. Paternal inheritance of a deletion of an imprinted control region within an intron of this gene results in small body size.
 
Human Diseases Modeled in Mice Using Kcnq1 (2)    Mutations Annotated to Human Diseases (7)    Phenotype Images(4)
Interactions
Kcnq1 interacts with 138 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (40 records)
Data Summary: Results (228)    Tissues (74)    Images (6)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 1
Northern blot 22
RT-PCR 205
cDNA source data(6)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase kcnq1 ; ZFIN kcnq1    NEW 
Molecular
reagents
All nucleic(89) Genomic(66) cDNA(6) Primer pair(17)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000046376 (Evidence)
Ensembl Gene Model ENSMUSG00000009545 (Evidence)
Entrez Gene 16535 (Evidence)
DFCI TC1584003
DoTS DT.101293585, DT.110980537, DT.110980548, DT.110980571, DT.110980577, DT.40135063
NIA Mouse Gene Index U008991, U065713, U067339, U096242
Consensus CDS Project CCDS22039.1
International Mouse Phenotyping Consortium Status Kcnq1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000046376 VEGA Gene Model | MGI Sequence Detail 320681 C57BL/6J ±  kb
transcript OTTMUST00000120842 VEGA | MGI Sequence Detail 3029 Not Applicable 
polypeptide OTTMUSP00000066799 VEGA | MGI Sequence Detail 668 Not Applicable 

For the selected sequences
All sequences(92) RefSeq(16) UniProt(10)
Polymorphisms
PCR(3) : SNPs within 2kb(2190 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005821 Ion transport domain
InterPro IPR003091 Potassium channel
InterPro IPR013099 Potassium channel domain
InterPro IPR003937 Potassium channel, voltage dependent, KCNQ
InterPro IPR005827 Potassium channel, voltage dependent, KCNQ1
InterPro IPR013821 Potassium channel, voltage dependent, KCNQ, C-terminal
InterPro IPR028325 Voltage-gated potassium channel
Protein Ontology PR:000000728 voltage-gated potassium channel subunit KCNQ1
References
(Earliest) J:10529 Bastian H, et al., A murine even-skipped homologue, Evx 1, is expressed during early embryogenesis and neurogenesis in a biphasic manner [published erratum appears in EMBO J 1991 Dec;10(12):3978]. EMBO J. 1990 Jun;9(6):1839-52
(Latest) J:218285 Xie R, et al., Molecular mechanisms of calcium-sensing receptor-mediated calcium signaling in the modulation of epithelial ion transport and bicarbonate secretion. J Biol Chem. 2014 Dec 12;289(50):34642-53
All references(107)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-37120, MGI:2142270

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory