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FLASH GENE
Symbol CLCN1 contributors: mct - updated : 04-12-2014
HGNC name chloride channel 1, skeletal muscle
HGNC id 2019
Corresponding disease
MCB myotonia, congenita, generalized of Becker
MCT myotonia congenita of Thomsen
Location 7q34      Physical location : 143.013.218 - 143.049.097
Synonym name
  • chloride voltage-gated channel 1
  • chloride channel protein, skeletal muscle
    • Synonym symbol(s) CLC1, MGC138361, MGC142055, ClC-1
    DNA
    TYPE functioning gene
    STRUCTURE 35.88 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    text structure
  • several consensus binding sites for myogenic transcription factors and two other putative regulatory elements
  • SP1 binding sites (role in CLCN1 regulation)
    • MAPPING cloned Y linked Y status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 3093 - 988 - 2007 17107341
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve alpha helical membrane spanning protein cytoplasmic N and C terminals
  • two CBS, forming a stable globular domain
    • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Clcn1
    intraspecies homolog to CLCN2
    Homologene
    FAMILY
  • CLC-channel/transporter family
  • CLCN1 subfamily
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • the majority of functional CLCN1 channels localize to the sarcolemma and provide essential insight into the basis of myofiber excitability in normal and diseased skeletal muscle
    • basic FUNCTION
  • voltage-dependent chloride channe
  • stabilizing the membrane potential of the muscle
  • plays important roles for the physiological functions of skeletal muscles
  • dominant sarcolemmal chloride channel, playing an important role in regulating membrane excitability
  • contribution to the regulation of brain excitability
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text ion transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FKBP8 and HSP90B1 play an essential role in the late phase of CLCN1 quality control by dynamically coordinating protein folding and degradation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCB , MCT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in myotonic dystrophy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS