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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
    Physical map
    EPHB6 7q33-q35 EphB6 TRPV6 7q33-q34 transient receptor potential cation channel, subfamily V, member 6 TRPV5 7q35 transient receptor potential cation channel, subfamily V, member 5 C7orf34 7q35 chromosome 7 open reading frame 34 KEL 7q33 Kell blood group LOC135924 7q35 similar to Olfactory receptor 9A2 LOC346517 7q35 similar to Olfactory receptor 6V1 sdolf 7q35 olfactory receptor sdolf PIP 7q34 prolactin-induced protein TAS2R39 7q35 taste receptor, type 2, member 39 TAS2R40 7q35 taste receptor, type 2, member 40 LOC51064 7q35 glutathione S-transferase subunit 13 homolog FLJ90586 7q35 hypothetical protein FLJ90586 CASP2 7q34-q35 caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2) LOC346521 7q35 similar to Histidine triad nucleotide-binding protein 1 (Adenosine 5-monophosphoramidase) (Protein kinase C inhibitor 1) (Protein kinase C-interacting protein 1) (PKCI-1) CLCN1 7q35 chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) KIAA0773 7q35 chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) LOC202775 7q35 hypothetical LOC202775 ZYX 7q34-q35 zyxin EPHA1 7q32-q34 EphA1 TAS2R62P 7q35 taste receptor, type 2, member 62 pseudogene TAS2R60 7q35 taste receptor, type 2, member 60 TAS2R41 7q35 taste receptor, type 2, member 41 LOC392132 7 similar to olfactory receptor MOR257-1 LOC392133 7 similar to seven transmembrane helix receptor LOC392134 7 similar to 60S ribosomal protein L26 LOC392135 7 similar to Multifunctional protein ADE2 FLJ40722 7q35 hypothetical protein FLJ40722
    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