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    Mtm1 myotubularin 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 288762, updated on 4-Jan-2025

    Summary

    Official Symbol
    Mtm1provided by RGD
    Official Full Name
    myotubularin 1provided by RGD
    Primary source
    RGD:1304582
    See related
    EnsemblRapid:ENSRNOG00000002516 AllianceGenome:RGD:1304582
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable intermediate filament binding activity; phosphatase activity; and phosphatidylinositol binding activity. Predicted to be involved in several processes, including dephosphorylation; muscle cell cellular homeostasis; and negative regulation of autophagosome assembly. Predicted to act upstream of or within negative regulation of intracellular signal transduction; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and positive regulation of skeletal muscle tissue growth. Predicted to be located in several cellular components, including I band; late endosome; and ruffle. Predicted to be active in cytoplasm and membrane. Human ortholog(s) of this gene implicated in congenital structural myopathy. Orthologous to human MTM1 (myotubularin 1). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Biased expression in Heart (RPKM 167.4), Muscle (RPKM 148.3) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Mtm1 in Genome Data Viewer
    Location:
    6q11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 6 NC_086024.1 (6234917..6252874, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 6 NC_051341.1 (488923..506882, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 6 NC_005105.4 (18821821..18840449)

    Chromosome 6 - NC_086024.1Genomic Context describing neighboring genes Neighboring gene alkB homolog 8, tRNA methyltransferase Neighboring gene pantothenate kinase 3, pseudogene 2 Neighboring gene uncharacterized LOC134479298 Neighboring gene uncharacterized LOC102553826 Neighboring gene ribosome biogenesis regulator 1 homolog, pseudogene 15 Neighboring gene egl-9 family hypoxia-inducible factor 1, pseudogene 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Pathways from PubChem

    General gene information

    Clone Names

    • MGC108964

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables intermediate filament binding  
    enables intermediate filament binding  
    enables phosphatidylinositol binding  
    enables phosphatidylinositol binding  
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
    enables phosphatidylinositol-3-phosphate phosphatase activity  
    enables phosphatidylinositol-3-phosphate phosphatase activity  
    enables phosphatidylinositol-3-phosphate phosphatase activity  
    enables phosphatidylinositol-3-phosphate phosphatase activity  
    enables phosphoprotein phosphatase activity  
    enables phosphoprotein phosphatase activity  
    enables phosphoprotein phosphatase activity  
    Items 1 - 25 of 34
    Process Evidence Code Pubs
    acts_upstream_of TOR signaling  
    acts_upstream_of autophagosome assembly  
    involved_in biological_process  
    involved_in endosome to lysosome transport  
    involved_in endosome to lysosome transport  
    involved_in intermediate filament organization  
    involved_in intermediate filament organization  
    involved_in lipid metabolic process  
    involved_in mitochondrion distribution  
    acts_upstream_of_or_within mitochondrion distribution  
    involved_in mitochondrion distribution  
    involved_in mitochondrion distribution  
    involved_in mitochondrion organization  
    involved_in mitochondrion organization  
    involved_in muscle cell cellular homeostasis  
    acts_upstream_of_or_within muscle cell cellular homeostasis  
    involved_in muscle cell cellular homeostasis  
    acts_upstream_of_or_within negative regulation of TOR signaling  
    involved_in negative regulation of autophagosome assembly  
    acts_upstream_of_or_within negative regulation of autophagosome assembly  
    acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    acts_upstream_of_or_within negative regulation of proteasomal ubiquitin-dependent protein catabolic process  
    acts_upstream_of phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    involved_in phosphatidylinositol dephosphorylation  
    involved_in phosphatidylinositol dephosphorylation  
    involved_in phosphatidylinositol dephosphorylation  
    acts_upstream_of_or_within positive regulation of skeletal muscle tissue growth  
    acts_upstream_of proteasome-mediated ubiquitin-dependent protein catabolic process  
    involved_in protein dephosphorylation  
    involved_in protein dephosphorylation  
    involved_in protein transport  
    involved_in regulation of vacuole organization  
    involved_in regulation of vacuole organization  
    acts_upstream_of skeletal muscle tissue growth  
    Items 1 - 25 of 34
    Component Evidence Code Pubs
    located_in I band  
    is_active_in cytoplasm  
    located_in cytoplasm  
    located_in cytoplasm  
    located_in cytosol  
    located_in filopodium  
    located_in filopodium  
    located_in filopodium  
    located_in late endosome  
    located_in late endosome  
    located_in late endosome  
    is_active_in membrane  
    located_in membrane  
    located_in plasma membrane  
    located_in plasma membrane  
    located_in plasma membrane  
    located_in ruffle  
    located_in ruffle  
    located_in ruffle  
    located_in sarcomere  

    General protein information

    Preferred Names
    myotubularin
    Names
    X-linked myotubular myopathy gene 1
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    NP_001013065.2
    NP_001386222.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001013047.2NP_001013065.2  myotubularin isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000006
      UniProtKB/TrEMBL
      A0A8I5ZPW5
      Related
      ENSRNOP00000058761.5, ENSRNOT00000062057.6
      Conserved Domains (2) summary
      pfam06602
      Location:162489
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:44143
      PH-like; Pleckstrin homology-like domain
    2. NM_001399293.1NP_001386222.1  myotubularin isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000006
      UniProtKB/Swiss-Prot
      Q5BK31, Q6AXQ4
      UniProtKB/TrEMBL
      A0A8I5ZPW5
      Conserved Domains (2) summary
      pfam06602
      Location:162489
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:44143
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086024.1 Reference GRCr8

      Range
      6234917..6252874 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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