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    Clcn1 chloride channel, voltage-sensitive 1 [ Mus musculus (house mouse) ]

    Gene ID: 12723, updated on 29-Aug-2017
    Official Symbol
    Clcn1provided by MGI
    Official Full Name
    chloride channel, voltage-sensitive 1provided by MGI
    Primary source
    MGI:MGI:88417
    See related
    Ensembl:ENSMUSG00000029862 Vega:OTTMUSG00000036880
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    adr; mto; Clc1; Clc-1; SMCC1; nmf355; myotonia
    Orthologs
    Location:
    6 B2.1; 6 20.57 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 6 NC_000072.6 (42282603..42315759)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (42236684..42264655)

    Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes Neighboring gene transmembrane protein 139 Neighboring gene caspase 2 Neighboring gene predicted gene, 38797 Neighboring gene family with sequence similarity 131, member B Neighboring gene zyxin Neighboring gene RIKEN cDNA 2010310C07 gene Neighboring gene Eph receptor A1

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

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

    Markers

    Homology

    Clone Names

    • MGC124486

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    voltage-gated chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    voltage-gated chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chloride transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    chloride transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chloride transport ISO
    Inferred from Sequence Orthology
    more info
     
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    neuronal action potential propagation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    chloride channel protein 1
    Names
    arrested development of righting response
    chloride channel 1
    chloride channel protein, skeletal muscle

    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_013491.2NP_038519.1  chloride channel protein 1

      See identical proteins and their annotated locations for NP_038519.1

      Status: PROVISIONAL

      Source sequence(s)
      AK036735
      Consensus CDS
      CCDS39471.1
      UniProtKB/Swiss-Prot
      Q64347
      Related
      ENSMUSP00000031894.6, OTTMUSP00000052750, ENSMUST00000031894.12, OTTMUST00000094738
      Conserved Domains (4) summary
      cd03683
      Location:117592
      ClC_1_like; ClC-1-like chloride channel proteins. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. ClC-K is ...
      cd04591
      Location:827875
      CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...
      pfam00654
      Location:170571
      Voltage_CLC; Voltage gated chloride channel
      cl15354
      Location:610665
      CBS_pair; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000072.6 Reference GRCm38.p4 C57BL/6J

      Range
      42282603..42315759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006505477.3XP_006505540.1  chloride channel protein 1 isoform X3

      Conserved Domains (2) summary
      cd03683
      Location:117592
      ClC_1_like; ClC-1-like chloride channel proteins. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. ClC-K is ...
      pfam00654
      Location:170571
      Voltage_CLC; Voltage gated chloride channel
    2. XM_011241199.1XP_011239501.1  chloride channel protein 1 isoform X1

      Conserved Domains (4) summary
      cd03683
      Location:28362
      ClC_1_like; ClC-1-like chloride channel proteins. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. ClC-K is ...
      cd04591
      Location:597645
      CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...
      pfam00654
      Location:36341
      Voltage_CLC; Voltage gated chloride channel
      cl15354
      Location:380435
      CBS_pair; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    3. XM_006505476.3XP_006505539.1  chloride channel protein 1 isoform X2

      Conserved Domains (4) summary
      cd04591
      Location:489537
      CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...
      pfam00654
      Location:3233
      Voltage_CLC; Voltage gated chloride channel
      cl02915
      Location:1254
      Voltage_gated_ClC; CLC voltage-gated chloride channel. The ClC chloride channels catalyse the selective flow of Cl- ions across cell membranes, thereby regulating electrical excitation in skeletal muscle and the flow of salt and water across epithelial barriers. This ...
      cl15354
      Location:272327
      CBS_pair; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
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