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    CLCN1 chloride voltage-gated channel 1 [ Homo sapiens (human) ]

    Gene ID: 1180, updated on 14-Apr-2016
    Official Symbol
    CLCN1provided by HGNC
    Official Full Name
    chloride voltage-gated channel 1provided by HGNC
    Primary source
    HGNC:HGNC:2019
    See related
    Ensembl:ENSG00000188037 HPRD:00320; MIM:118425; Vega:OTTHUMG00000152695
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLC1
    Summary
    The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
    Orthologs
    Location:
    7q35
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (143316126..143353862)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (143013219..143049097)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene caspase 2 Neighboring gene histidine triad nucleotide binding protein 1 pseudogene 1 Neighboring gene family with sequence similarity 131 member B Neighboring gene uncharacterized LOC101928397 Neighboring gene uncharacterized LOC100507507 Neighboring gene zyxin

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC138361, MGC142055

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated chloride channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    voltage-gated chloride channel activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    chloride transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuronal action potential propagation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of anion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of anion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    chloride channel protein 1
    Names
    chloride channel 1, skeletal muscle
    chloride channel protein, skeletal muscle
    chloride channel, voltage-sensitive 1
    clC-1

    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.

    Genomic

    1. NG_009815.1 RefSeqGene

      Range
      5001..40879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000083.2NP_000074.2  chloride channel protein 1

      See identical proteins and their annotated locations for NP_000074.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC073342, BC112156, Z25884
      Consensus CDS
      CCDS5881.1
      UniProtKB/Swiss-Prot
      P35523
      Related
      ENSP00000339867, OTTHUMP00000202223, ENST00000343257, OTTHUMT00000327420
      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 ...
      cd04591
      Location:821869
      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 ...

    RNA

    1. NR_046453.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC073342, AC093673, BC143796

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

      Range
      143316126..143353862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515781.1XP_011514083.1  

      Conserved Domains (2) summary
      cd03683
      Location:131600
      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:829877
      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 ...
    2. XM_011515782.1XP_011514084.1  

      Conserved Domains (2) summary
      cd04591
      Location:403451
      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 ...
      cl02915
      Location:39174
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      142950106..142986018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)