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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
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
    regulatory sequence Promoter
    text structure CarG box in the promoter of CACNA1S
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    44 - 6168 - 1873 - 1994 7713519
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratoryrespiratory tractlarynx   
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualbipolar cell Homo sapiens
    Visualrod photoreceptor Homo sapiens
    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
  • 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