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FLASH GENE
Symbol CASQ1 contributors: mct - updated : 09-05-2016
HGNC name calsequestrin 1 (fast-twitch, skeletal muscle)
HGNC id 1512
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 21 phosphorylation sites
  • 4 myristylation sites
  • one N glycosylation site
  • C-terminal calcium-sensitive disordered motifs undergoing distinctive Ca(2+)-mediated folding suggesting that these disordered motifs are Ca(2+)-sensitivity
  • HOMOLOGY
    intraspecies homolog to CASQ2
    Homologene
    FAMILY
  • calsequestrin family
  • CATEGORY motor/contractile , storage
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • luminal space of the terminal cisternae of RE
  • sarcoplasmic reticulum
  • CASQ1, CASQ2 are present in the endoplasmic reticulum vacuolar domains of some neurons and smooth muscles
  • basic FUNCTION
  • calcium storage protein in terminal cisternae of sarcoplasmic reticulum
  • represents the Ca2+ reservoir of mitochondria, the function of which could be similar to what has been reported for calsequestrine in the sarcoplasmic reticulum (Bataille 1994)
  • is thought to play a dual role in excitation-contraction coupling: buffering free Ca(2+) increasing SR capacity, and modulating the activity of the Ca(2+) release channels (RyRs) (Paolini 2007)
  • high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle
  • involved in intracellular storage and release of calcium, a process that has been shown to mediate glucose transport in muscle
  • essential for the normal development of the sarcoplasmic reticulum (SR)and its calcium release units and for the storage and release of appropriate amounts of SR Ca(2+) (Paolini 2007)
  • curtails RYR1 opening in response to a single action potential to maintain Ca(2+) and allow repeated Ca(2+) release and graded activation with increased stimulation frequency (Wei 2009)
  • functions as both a Ca(2+)-binding protein and a luminal regulator of ryanodine receptor (RYR1)-mediated Ca(2+) release (Dainese (2009)
  • principal Ca(2+) storage protein of the sarcoplasmic reticulum of skeletal muscle
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • calcium Ca2+
  • low affinity
  • high capacity
  • protein
  • binds laminin
  • ASPH and TRDN each activate skeletal ryanodine receptors but ASPH alone mediates functional interactions with CASQ1
  • TRDN and ASPH are structurally related transmembrane proteins thought to be key mediators of structural and functional interactions between calsequestrin (CASQ1) and ryanodine receptor (RyRs) at the junctional sarcoplasmic reticulum
  • DYSF interacts with CASQ1, MYOM2 and dynein in human skeletal muscle
  • role for CASQ1 in promoting the stable association of TRDN to the multiprotein complex associated with RYR
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) VMCQA
    related resource MITOP database
    Susceptibility
  • to type 2 diabetes
  • to Graves ophthalmopathy (GO)
  • to malignant hyperthermia
  • Variant & Polymorphism SNP
  • increasing the risk of of type 2 diabetes
  • SNPs rs74123279, rs3838216, and rs2275703 may be considered as genetic markers for GO
  • M87T "variant" is weakly associated with malignant hyperthermia
  • Candidate gene potential candidate gene for linkage analysis in families with malignant hyperthermia/environmental heat stroke where mutations in the RYR1 gene are excluded (Dainese 2009)
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • CASQ1-null mice exhibit increased spontaneous mortality and susceptibility to heat- and anesthetic-induced sudden death (Dainese 2009)