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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
Chr7:143107254-143427042 bp, + strand
From NCBI annotation of GRCm38

  319789 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 zebrafish

Protein SuperFamily: potassium voltage-gated channel, subfamily KQT
Gene Tree: Kcnq1
Human
homologs
Human Homolog KCNQ1, potassium voltage-gated channel, KQT-like subfamily, member 1
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; chr11:2466221-2870340 (+)  GRCh37.p10
Disease Associations  (5) Diseases Associated with Human KCNQ1
Alleles
and
phenotypes 		All alleles(21) : Targeted(8) Gene trapped(9) Spontaneous(3) Chemically induced(1)
 
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 Using Mouse Kcnq1 (2)    Alleles Annotated to Human Diseases(4)    Phenotype Images(4)
Gene Ontology
(GO)
classifications 		All GO classifications: (46 annotations)
Process cardiovascular system development, gene silencing, ...
Component basolateral plasma membrane, cytoplasmic vesicle, ...
Function calmodulin binding, delayed rectifier potassium channel activity, ...
External Resources: FuncBase
Expression Literature Summary: (37 records)
Data Summary: Results (223)    Tissues (64)    Images (4)
Theiler Stages: 4, 9, 11, 13, 15, 17, 20, 21, 22, 23, 24, 25, 28
Assay TypeResults
RNA in situ 1
Northern blot 22
RT-PCR 200
cDNA source data(6)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents 		All nucleic(88) Genomic(66) cDNA(6) Primer pair(16)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000009545 (Evidence)
Entrez Gene16535 (Evidence)
DFCITC1584003
DoTSDT.101293585, DT.110980537, DT.110980548, DT.110980571, DT.110980577, DT.40135063
NIA Mouse Gene IndexU008991, U065713, U067339, U096242
Consensus CDS ProjectCCDS22039.1
International Mouse Knockout Project StatusKcnq1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 16535 NCBI Gene Model | MGI Sequence Detail 319789 C57BL/6J ±  kb
transcript NM_008434 RefSeq | MGI Sequence Detail 3052 FVB/N 
polypeptide P97414 UniProt | EBI | MGI Sequence Detail 668 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(2) UniProt(4)
Polymorphisms PCR(3) : SNPs(827 from dbSNP Build 128)
Protein-related
information
ResourceIDDescription
InterPro IPR013099 Ion transport 2
InterPro IPR005821 Ion transport 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 IPR003091 Voltage-dependent potassium channel
Protein Ontology PR:000000728 voltage-gated potassium channel subunit KCNQ1
Graphical View of Protein Domain Structure
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:190449 Korostowski L, et al., The Kcnq1ot1 long non-coding RNA affects chromatin conformation and expression of Kcnq1, but does not regulate its imprinting in the developing heart. PLoS Genet. 2012 Sep;8(9):e1002956
All references(99)
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
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
05/08/2013
MGI 5.13 		The Jackson Laboratory