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FLASH GENE
Symbol MYH3 contributors: mct/npt - updated : 20-05-2015
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
    Physical map
    FLJ35773 17p13.1 hypothetical protein FLJ35773 P101-PI3K 17p13.1 phosphoinositide-3-kinase, regulatory subunit, polypeptide p101 LOC388334 17 LOC388334 NTN1 17p13-p12 netrin 1 STX8 17p12 syntaxin 8 LOC146845 17p13.1 hypothetical protein LOC146845 USP43 17p12 ubiquitin specific protease 43 LOC201140 17p13.1 similar to DKFZP566O084 protein GLP2R 17p13.3 glucagon-like peptide 2 receptor RCV1 17p13.2 recoverin GAS7 17p13 growth arrest-specific 7 RPS27AP1 17 ribosomal protein S27a pseudogene 1 MYH13 17p13.1-p12 myosin, heavy polypeptide 13, skeletal muscle MYH8 17p13.1 myosin, heavy polypeptide 8, skeletal muscle, perinatal MYH4 17p13.1 myosin, heavy polypeptide 4, skeletal muscle MYH1 17p13.1 myosin, heavy polypeptide 1, skeletal muscle, adult MYH2 17p13.1 myosin, heavy polypeptide 2, skeletal muscle, adult MYH3 17p13.1 myosin, heavy polypeptide 3, skeletal muscle, embryonic SCO1 17p13-p12 SCO cytochrome oxidase deficient homolog 1 (yeast) MDS006 17p13.1 x 006 protein LOC388335 17 similar to RIKEN cDNA A730055C05 gene LOC388336 17 similar to hypothetical protein D430041B17 LOC284033 17p13.1 hypothetical protein LOC284033 DNAH9 17p12 dynein, axonemal, heavy polypeptide 9 ZNF18 17p13-p12 zinc finger protein 18 (KOX 11) LOC390763 17 similar to 60S ribosomal protein L21 MAP2K4 17p11.2 mitogen-activated protein kinase kinase 4
    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 sapiens
    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
  • 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