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FLASH GENE
Symbol CACNA1S contributors: mct/npt - updated : 21-12-2022
HGNC name calcium channel, voltage-dependent, L type, alpha 1S subunit
HGNC id 1397
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
  • role for CACNA1S independent of its calcium channel activity, in the activation of signaling pathways allowing muscle fibers to decipher the frequency of electrical stimulation
  • CACNA1S contributes likely to light adaptation by permeating calcium
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with the myoplasmic (N ter) domain of RYR1
  • MEF2D is required for the expression of various genes in photoreceptor and bipolar cells, including cone arrestin, GUCA1B, PDE6H and CACNA1S, which encode outer segment and synapse proteins
    • cell & other
    REGULATION
    activated by MRTFA that could activate the transcription CACNA1S by binding to the CarG box in the promoter of CACNA1S
    ASSOCIATED DISORDERS
    corresponding disease(s) HOKPP1 , MHS5
    Susceptibility
  • to malignant hyperthermia
  • to fluctuating asymptomatic creatine kinase elevation after rhabdomyolysis
    • Variant & Polymorphism
  • a single potentially pathogenic change in CACNA1S (p.Arg174Trp), associated to malignant hyperthermia (Carpenter 2009)
  • variant (p.Arg528Leu) associated with fluctuating asymptomatic creatine kinase elevation after rhabdomyolysis
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS