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FLASH GENE
Symbol MYOT contributors: shn/npt - updated : 31-01-2012
HGNC name myotilin
HGNC id 12399
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • several phosphorylation sites in the N terminal region, and a unique serine-rich N-terminus
  • C-terminal half contains two Ig-like domains homologous to titin
  • shares the C-terminal motif E[ST][DE][D/E]L, which has the characteristics of a class III type PDZ domain binding sequence
  • first Ig-domain of myotilin (MyoIg1), exhibits I-type Ig-fold , and Ig domains flanked with N- and C-terminal regions were needed for actin-bundling
    • HOMOLOGY
    interspecies ortholog to Myot, Mus musculus
    ortholog to MYOT, Pan roglodytes
    ortholog to Myot, Rattus norvegicus
    Homologene
    FAMILY
  • myotilin/palladin family
    • CATEGORY motor/contractile , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • sarcomeric protein
  • localizes in sarcomeric Z-discs, where it interacts with several sarcomeric proteins
    • basic FUNCTION
  • myotilin plays a role in muscle contraction
  • myotilin plays a role, in stabilization and anchorage of thin filaments, which may be a prerequisite for correct Z-disc organization
  • core structural molecule in nemaline rods and central core lesions may be having a key role in the dynamic molecular events mediating myofibril assembly in normal and pathologic muscle
  • has an important function in the assembly and maintenance of Z-discs
    • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text cell shape and cell size control
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds alpha-actinin, gamma-filamin and F-actin
  • substrate for the Ca(2+)-dependent protease calpain
    • cell & other
  • binding to cytoskeleton
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD1A , MYTP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS