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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
Corresponding disease
VMCQA vacuolar myopathy with CASQ1 aggregates
Location 1q23.2      Physical location : 160.160.284 - 160.171.674
Synonym name
  • calmitine
  • calmitin
  • calsequestrin 1
    • Synonym symbol(s) CALS, CASQ, PDIB1, VMCQA
    DNA
    TYPE functioning gene
    STRUCTURE 11.39 kb     11 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1993 41.74 390 - 2013 23792176
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivepharynx    
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth    Homo sapiens
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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)