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FLASH GENE
Symbol MYH3 contributors: mct/npt - updated : 20-05-2016
HGNC name myosin, heavy polypeptide 3, skeletal muscle, embryonic
HGNC id 7573
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • globular head associating to the light chain (amino acid residues &
    • 8764;1–779)
  • actin and ATP binding sites
  • a neck containing IQ calmodulin or calmodulin-like light binding domain (the converter) connected to the base of a long alpha helical tail, rodlike tail sequence highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils
  • a myosin head-like domain
  • globular motor domain (AAs &
    • 8764;1–779) attached by short neck (&
    8764;779–840) and hinge (&
    8764;840) regions to a long coiled-coil rod domain (&
    8764;840–1,940)
  • majority of the rod region comprises the myosin tail domain (AAs &
    • 8764;1,070–1,940)
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text in thick filaments of the myofibrils
    basic FUNCTION
  • motor contractile protein moving towards the "plus" end of actin track
  • involved in muscle contraction
  • plays a crucial role in important processes in the early developing heart and, hence, is a candidate causative gene for atrial septal defects and cardiomyopathy
  • protein that assembles as homo- and hetero-dimers to form the thick filament in the sarcomere
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • hexameric protein that consists of 2 heavy chain subunits (MHC), two alkali light chain subunits (MLC) and two regulatory light chain subunits (MLC-2)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FSS , SHHS , MPTSA1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in advanced pelvic organ prolapse
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS