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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
Corresponding disease
FSS Freeman Sheldon syndrome
MPTSA1 multiple pterygium syndrome autosomal dominant 1
SHHS Sheldon-Hall syndrome
Location 17p13.1      Physical location : 10.531.842 - 10.559.465
Synonym name
  • muscle embryonic myosin heavy chain 3
  • myosin, skeletal, heavy chain, embryonic 1
  • Synonym symbol(s) MYHC-EMB, MYHSE1, HEMHC, SMHCE, EMYH
    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