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FLASH GENE
Symbol MTM1 contributors: mct/npt - updated : 18-04-2017
HGNC name myotubularin 1
HGNC id 7448
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal catalytic domain to the active site of tyrosine phosphatases
  • a SET domain multifunctional chromatin regulator (130AA)
    • HOMOLOGY
    interspecies homolog to yeast,highly conserved
    homolog to C.elegans
    Homologene
    FAMILY
  • protein-tyrosine phosphatase family
  • non-receptor class myotubularin subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • putatively involved in signal transduction
  • protein tyrosine phospholase, dephosphorylating the lipid messenger phosphatidylinositol-3-phosphate
  • regulator of membrane traffic and in particular the movements of vesicles between endosomal compartments (Dowling 2009)
  • MTM1 roles in the structural organization of muscle fibers that are independent of its enzymatic activity
  • direct function of MTM1 enzymatic activity in SR remodeling and a key role for PIKFYVE in promoting sarcoplasmic reticulum (SR) membrane curvature in skeletal muscle
  • enhances BIN1-mediated membrane tubulation, depending on binding and phosphoinositide phosphatase activity
    • CELLULAR PROCESS protein, post translation
    PHYSIOLOGICAL PROCESS development
    text muscle developpment
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SET domain of HRX
  • major regulator of both the desmin cytoskeleton and mitochondria homeostasis, specifically in skeletal muscle
  • MTM1 is a novel binding partner of BIN1, endogenously in skeletal muscle
  • SPEG was identified as an MTM1-interacting protein
    • cell & other
    REGULATION
    Other PI3P : down regulating of phosphatidylinositol 3 kinase and degrading PI3P
    ASSOCIATED DISORDERS
    corresponding disease(s) MTM1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • muscle fibers from MTM1-deficient mice present defects in excitation-contraction (EC) coupling likely responsible for the disease-associated fatal muscle weakness