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FLASH GENE
Symbol CACNA1S contributors: mct/npt - updated : 13-02-2010
HGNC name calcium channel, voltage-dependent, L type, alpha 1S subunit
HGNC id 1397
Corresponding disease
HOKPP1 hypokalemic periodic paralysis
MHS5 malignant hyperthermia susceptibility, 5
Location 1q32.1      Physical location : 201.008.640 - 201.081.694
Synonym name
  • dehydropyridine sensitive receptor, alpha 1 subunit
  • calcium channel, L type,alpha 1 polypeptide, isoform 3, skeletal muscle
  • voltage- gated calcium channel subunit alpha Cav1.1
  • dihydropyridine receptor
  • Synonym symbol(s) CACNL1A3, CCHL3A1, hypoPP, CACN1, CACH1, Cav1.1, HOKPP
    DNA
    TYPE functioning gene
    STRUCTURE 73.05 kb     44 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    44 - 6168 - 1873 - Hogan (1994)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transmembrane (4TM) domains of homology
  • six alpha helical membrane spanning segments (24 transmembrane segments)
  • an EC loop between domains II and III
  • HOMOLOGY
    interspecies homolog to murine Mdg (muscular dysgenesis gene)
    Homologene
    FAMILY
  • calcium channel alpha-1 subunit family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text plasma lemma and transverse T tubules
    basic FUNCTION
  • calcium voltage-gated channel (VDCC), L (long lasting) type
  • involved in excitation-contraction coupling
  • like CACNA1B, interacts directly with RYR1 and is critical for the generation of high-speed Ca(2+) signals coupled to membrane depolarization )
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with the myoplasmic (N ter) domain of RYR1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HOKPP1 , MHS5
    Susceptibility to malignant hyperthermia
    Variant & Polymorphism a single potentially pathogenic change in CACNA1S (p.Arg174Trp), associated to malignant hyperthermia (Carpenter 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS