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FLASH GENE
Symbol MYPN contributors: mct/npt - updated : 03-03-2017
HGNC name myopalladin
HGNC id 23246
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • five immunoglobulin (Ig) repeats
  • six interdomain insertions
    • HOMOLOGY
    Homologene
    FAMILY
  • myotilin/palladin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text localized at the Z line of both heart and skeletal myofibrils, and colocalized with cardiac ankyrin repeat protein (Carp) within the I band
    basic FUNCTION
  • playing a signaling role in targeting and orienting nebulin during sarcomere assembly
  • may also link regulatory mechanisms involved in Z-line structures (via alpha-actinin and nebulin/nebulette) to those involved in muscle gene expression (via ANKRD1)
  • sarcomeric protein exclusively localized in striated muscle in humans
  • myopalladin signals accumulate in the caps together with alpha-actinin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the sarcomere
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • a proline triplet within interdomain-3 interacted directly with the SH3 domains of nebulin and nebulette
  • Ig domains III, IV, and V interacted with the C terminus of ACTN2
  • N-terminal domain interacted with ANKRD1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMD1KK , NEM11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS