Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CLCN1 contributors: mct - updated : 04-12-2014
HGNC name chloride channel 1, skeletal muscle
HGNC id 2019
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