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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
    Physical map
    LOC347509 Xq28 similar to ribosomal protein L7-like 1 FMR2 Xq28 fragile X mental retardation 2 IDS Xq27.3-q28 iduronate 2-sulfatase (Hunter syndrome) IDSP1 Xq28 iduronate 2-sulfatase pseudogene 1 LOC91966 Xq28 hypothetical protein LOC91966 LOC347512 Xq28 similar to Heat shock transcription factor, Y-linked (Heat shock transcription factor 2-like protein) (HSF2-like) LW-1 Xq28 similar to Heat shock transcription factor, Y-linked (Heat shock transcription factor 2-like protein) (HSF2-like) FAM11A Xq28 similar to Heat shock transcription factor, Y-linked (Heat shock transcription factor 2-like protein) (HSF2-like) LOC392556 X similar to Melanoma-associated antigen 11 (MAGE-11 antigen) MAGEA11 Xq28 melanoma antigen, family A, 11 MAGEA9 Xq28 melanoma antigen, family A, 9 MAGEA7 Xq28 melanoma antigen, family A, 7, pseudogene MAGEA8 Xq28 melanoma antigen, family A, 8 LOC389900 X similar to DKFZP586L0724 protein LOC389901 X similar to ATP-dependent DNA helicase II, 70 kDa subunit (Lupus Ku autoantigen protein p70) (Ku70) (70 kDa subunit of Ku antigen) (Thyroid-lupus autoantigen) (TLAA) (CTC box binding factor 75 kDa subunit) (CTCBF) (CTC75) CXorf6 Xq28 chromosome X open reading frame 6 MTM1 Xq28 myotubular myopathy 1 MTMR1 Xq28 myotubularin related protein 1 CD99L2 Xq28 CD99 antigen-like 2 HMGB3 Xq28 high-mobility group box 3 LOC392557 X similar to hypothetical protein GPR50 Xq28 G protein-coupled receptor 50 LOC286456 Xq28 similar to NGFI-A binding protein 1; NGFI-A-binding protein 1; EGR1 binding protein 1 LOC139135 Xq28 hypothetical protein LOC139135 TMG3 Xq28 transmembrane gamma-carboxyglutamic acid protein 3 FATE Xq28 transmembrane gamma-carboxyglutamic acid protein 3 LOC389902 X similar to Cyclic-nucleotide-gated olfactory channel (Cyclic-nucleotide-gated cation channel 2) (CNG channel 2) (CNG-2) (CNG2) (Aorta CNG channel) (RACNG) MAGEA4 Xq28 melanoma antigen, family A, 4 GABRE Xq28 gamma-aminobutyric acid (GABA) A receptor, epsilon LOC392558 X similar to 33K laminin receptor homolog - bovine MAGEA5 Xq28 melanoma antigen, family A, 5 MAGEA10 Xq28 melanoma antigen, family A, 10 GABRA3 Xq28 gamma-aminobutyric acid (GABA) A receptor, alpha 3 GABRQ Xq28 gamma-aminobutyric acid (GABA) receptor, theta TRAG3 Xq28 taxol resistance associated gene 3 MAGEA2b Xq28 melanoma antigen, family A, 2, copy b MAGEA12 Xq28 melanoma antigen, family A, 12 CSAGE Xq28 chondrosarcoma associated gene 1 MAGEA2 Xq28 melanoma antigen, family A, 2 LOC389903 X similar to Taxol resistant associated protein 3 (TRAG-3)
    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