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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
DNA
TYPE functioning gene
STRUCTURE 27.62 kb     40 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map see MYH1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
40 - 6037 - 1940 - 2008 18695058
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart     Homo sapiensFetal
Digestiveliver     Homo sapiensFetal
Lymphoid/Immunethymus     Homo sapiensFetal
Reproductivefemale systemplacenta    Homo sapiensFetal
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly Homo sapiensFetal
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal, pregnancy
Text pregnancy, abundantly present in fetal skeletal muscle and not present or barely detectable in heart and adult skeletal muscle
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • globular head associating to the light chain (amino acid residues &
  • 8764;1779)
  • 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;1779) attached by short neck (&
    8764;779840) and hinge (&
    8764;840) regions to a long coiled-coil rod domain (&
    8764;8401,940)
  • majority of the rod region comprises the myosin tail domain (AAs &
  • 8764;1,0701,940)
    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