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FLASH GENE
Symbol MTM1 contributors: mct/npt - updated : 18-04-2017
HGNC name myotubularin 1
HGNC id 7448
Corresponding disease
MTM1 myopathy, myotubular 1
Location Xq28      Physical location : 149.737.046 - 149.841.614
Synonym name
  • myotubularin
  • myotubular myopathy 1
    • Synonym symbol(s) MTMX, CNM, XLMTM, CG2
    EC.number 3.1.3.64/3.1.3.95
    DNA
    TYPE functioning gene
    STRUCTURE 104.57 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 4599 - 701 - 2013 22968136
    15 - 3452 - 603 widely 2013 22968136
    - - 2600 - - skeletal muscle 2013 22968136
    - - 4600 - 424 skeletal muscle, testis 2013 22968136
    overlapping ORF
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrinethyroid   highly
    Respiratoryrespiratory tracttrachea  highly
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text placenta
    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