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    Kcnq1 potassium voltage-gated channel, subfamily Q, member 1 [ Mus musculus (house mouse) ]

    Gene ID: 16535, updated on 21-Apr-2024

    Summary

    Official Symbol
    Kcnq1provided by MGI
    Official Full Name
    potassium voltage-gated channel, subfamily Q, member 1provided by MGI
    Primary source
    MGI:MGI:108083
    See related
    Ensembl:ENSMUSG00000009545 AllianceGenome:MGI:108083
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Kcna9; KVLQT1
    Summary
    Enables voltage-gated potassium channel activity. Involved in several processes, including animal organ development; inorganic ion homeostasis; and regulation of heart contraction. Acts upstream of or within circulatory system development; negative regulation of gene expression; and regulation of gene expression by genetic imprinting. Located in apical part of cell; neuron projection; and transport vesicle. Part of voltage-gated potassium channel complex. Is active in several cellular components, including apical plasma membrane; basolateral part of cell; and ciliary base. Is expressed in several structures, including alimentary system; extraembryonic component; heart; hemolymphoid system gland; and reproductive system. Used to study Jervell-Lange Nielsen syndrome and long QT syndrome 1. Human ortholog(s) of this gene implicated in heart conduction disease (multiple) and long QT syndrome (multiple). Orthologous to human KCNQ1 (potassium voltage-gated channel subfamily Q member 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in large intestine adult (RPKM 20.0), colon adult (RPKM 19.5) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    7 F5; 7 88.12 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (142660614..142980787)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (143106877..143427050)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene CD81 antigen Neighboring gene tumor-suppressing subchromosomal transferable fragment 4 Neighboring gene transient receptor potential cation channel, subfamily M, member 5 Neighboring gene VISTA enhancer mm183 Neighboring gene STARR-seq mESC enhancer starr_20525 Neighboring gene predicted gene 28821 Neighboring gene KCNQ1 overlapping transcript 1 Neighboring gene STARR-positive B cell enhancer ABC_E10485 Neighboring gene RIKEN cDNA 4933417O13 gene Neighboring gene STARR-seq mESC enhancer starr_20528 Neighboring gene STARR-seq mESC enhancer starr_20529 Neighboring gene STARR-seq mESC enhancer starr_20530 Neighboring gene predicted gene, 33663 Neighboring gene cyclin dependent kinase inhibitor 1C

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calmodulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to delayed rectifier potassium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables delayed rectifier potassium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables monoatomic ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables outward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables outward rectifier potassium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables potassium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase A catalytic subunit binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein kinase A regulatory subunit binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein phosphatase 1 binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables scaffold protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables voltage-gated potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to voltage-gated potassium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables voltage-gated potassium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization ISO
    Inferred from Sequence Orthology
    more info
     
    enables voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization ISO
    Inferred from Sequence Orthology
    more info
     
    enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in adrenergic receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in atrial cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in auditory receptor cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to cAMP ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to epinephrine stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to xenobiotic stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in chloride ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cochlea development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in corticosterone secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in detection of mechanical stimulus involved in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within digestive system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gastric acid secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gastrin-induced gastric acid secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within inner ear development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner ear development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intestinal absorption ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular chloride ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular chloride ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in iodide transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane repolarization during action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane repolarization during action potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in membrane repolarization during atrial cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in membrane repolarization during cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in membrane repolarization during ventricular cardiac muscle cell action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within membrane repolarization during ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane repolarization during ventricular cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of delayed rectifier potassium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of insulin secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of voltage-gated potassium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in non-motile cilium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cardiac muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of heart rate ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of potassium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in potassium ion export across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in potassium ion export across plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in potassium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in potassium ion import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in potassium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in potassium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in potassium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of atrial cardiac muscle cell membrane repolarization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of gastric acid secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of heart rate by cardiac conduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of membrane potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of membrane repolarization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of voltage-gated sodium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in renal absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in renal sodium ion absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to anesthetic ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to insulin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in rhythmic behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in social behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sodium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in stomach development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in basolateral part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in ciliary base IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lumenal side of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in membrane raft ISO
    Inferred from Sequence Orthology
    more info
     
    part_of monoatomic ion channel complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in neuron projection IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in neuronal cell body IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of voltage-gated potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of voltage-gated potassium channel complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in zymogen granule membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    potassium voltage-gated channel subfamily KQT member 1
    Names
    IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1
    KQT-like 1
    voltage-gated potassium channel subunit Kv7.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001412611.1NP_001399540.1  potassium voltage-gated channel subfamily KQT member 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012540, AC015800, AC023248
    2. NM_001412612.1NP_001399541.1  potassium voltage-gated channel subfamily KQT member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC012540, AC015800, AC023248
    3. NM_008434.3NP_032460.2  potassium voltage-gated channel subfamily KQT member 1 isoform 1

      See identical proteins and their annotated locations for NP_032460.2

      Status: VALIDATED

      Source sequence(s)
      AC012540, AC015800, AC023248
      Consensus CDS
      CCDS22039.1
      UniProtKB/Swiss-Prot
      O88702, P97414, Q3U4H1, Q7TNZ1, Q7TPL7, Q80VR7
      Related
      ENSMUSP00000009689.5, ENSMUST00000009689.11
      Conserved Domains (3) summary
      pfam00520
      Location:152358
      Ion_trans; Ion transport protein
      pfam03520
      Location:510616
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:269348
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      142660614..142980787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006508492.3XP_006508555.1  potassium voltage-gated channel subfamily KQT member 1 isoform X6

      Conserved Domains (2) summary
      pfam00520
      Location:12246
      Ion_trans; Ion transport protein
      pfam03520
      Location:398504
      KCNQ_channel; KCNQ voltage-gated potassium channel
    2. XM_006508490.4XP_006508553.3  potassium voltage-gated channel subfamily KQT member 1 isoform X4

      Conserved Domains (2) summary
      PRK12323
      Location:2144
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam00520
      Location:176412
      Ion_trans; Ion transport protein
    3. XM_006508491.4XP_006508554.3  potassium voltage-gated channel subfamily KQT member 1 isoform X5

      Conserved Domains (2) summary
      PRK12323
      Location:2144
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam00520
      Location:176412
      Ion_trans; Ion transport protein
    4. XM_006508488.4XP_006508551.2  potassium voltage-gated channel subfamily KQT member 1 isoform X1

      Conserved Domains (2) summary
      pfam00520
      Location:149378
      Ion_trans; Ion transport protein
      pfam03520
      Location:530636
      KCNQ_channel; KCNQ voltage-gated potassium channel
    5. XM_011241982.3XP_011240284.2  potassium voltage-gated channel subfamily KQT member 1 isoform X2

      Conserved Domains (2) summary
      pfam00520
      Location:149378
      Ion_trans; Ion transport protein
      pfam03520
      Location:530605
      KCNQ_channel; KCNQ voltage-gated potassium channel
    6. XM_006508489.5XP_006508552.2  potassium voltage-gated channel subfamily KQT member 1 isoform X3

      UniProtKB/TrEMBL
      A0A087WNY7
      Related
      ENSMUSP00000139548.2, ENSMUST00000185383.2
      Conserved Domains (1) summary
      pfam00520
      Location:149378
      Ion_trans; Ion transport protein
    7. XM_036152718.1XP_036008611.1  potassium voltage-gated channel subfamily KQT member 1 isoform X7

      Conserved Domains (2) summary
      pfam00520
      Location:27226
      Ion_trans; Ion transport protein
      pfam03520
      Location:378484
      KCNQ_channel; KCNQ voltage-gated potassium channel