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FLASH GENE
Symbol MYOM1 contributors: mct - updated : 29-08-2011
HGNC name myomesin 1, 185kDa
HGNC id 7613
Corresponding disease
CMH14 cardiomyopathy, familial, hypertrophic, 14
Location 18p11.31      Physical location : 3.066.805 - 3.220.106
Synonym name
  • myomesin 1 (skelemin) 185kDa
  • skelemin
  • 190 kDa connectin-associated protein
  • 190 kDa titin-associated protein
  • Synonym symbol(s) MYM1, MGC134946, MGC134947, SKELEMIN
    DNA
    TYPE functioning gene
    STRUCTURE 156.50 kb     38 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text with several isoforms two alternatively spliced forms myomesin and skelemin (in mouse) (Steiner)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    38 - 5848 187.5 1685 - 1999 10036188
    37 - 5560 177.7 1589 - 1999 10036188
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularheart   highly
    Digestiveliver   moderately
    Endocrinepancreas   moderately
    Nervousbrain   moderately
    Reproductivemale systemprostate  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a unique N terminal region, N-terminal domain 1 of myomesin interacts with the alpha-helical tail domain of Myosin, while the myomesin domains 46 bind to the C-terminus of titin
  • 12 modules of motif I (fibronectin type III) or motif II -immunoglobulin C2) in the arrangement II-II-I-I-I-I-I-II-II-II-II-II
  • C-terminal domain 13 of myomesin dimerises and forms antiparallel strands which cross-link neighboring Myosin filaments and titin in the M-line of the sarcomeres
  • HOMOLOGY
    interspecies homolog to murine Myom1
    homolog to C.elegans t24b8.7a
    Homologene
    FAMILY
  • Ig superfamily
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • sarcomeres, M bands and Z discs
  • located in the M-band which is found in all types of vertebrates striated muscle
  • basic FUNCTION
  • playing a role in muscle contraction, cell shape and cell size control
  • myomesin is an essential sarcomeric component controlling the assembly and maintenance of the A-band structure whereas the M-protein increases the stability of the thick filament lattice in some kind of muscles
  • plays an important structural and functional role in the M-band of striated muscles
  • CELLULAR PROCESS cell life, proliferation/growth
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of meromyosin (binding the globular head of titin and the central region of light meromyosin), potentially involved in the assembly and/or stabilization of myofibrils protein constituent of sarcomeric M-band
  • myomesin dimers cross-link neighboring Myosin and titin filaments in the M-line of the sarcomeres stabilising the contractile apparatus during striated muscle contraction
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to myosin
  • binding to titin
  • binding to light meromyosin
  • binding to integrin for transmission of signal leading to the initial steps of cell spreading
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMH14
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS