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    Mtm1 X-linked myotubular myopathy gene 1 [ Mus musculus (house mouse) ]

    Gene ID: 17772, updated on 3-Dec-2024

    Summary

    Official Symbol
    Mtm1provided by MGI
    Official Full Name
    X-linked myotubular myopathy gene 1provided by MGI
    Primary source
    MGI:MGI:1099452
    See related
    Ensembl:ENSMUSG00000031337 AllianceGenome:MGI:1099452
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mtm; mKIAA4176
    Summary
    Predicted to enable intermediate filament binding activity; phosphatase activity; and phosphatidylinositol binding activity. Involved in mitochondrion distribution and muscle cell cellular homeostasis. Acts upstream of or within negative regulation of catabolic process; negative regulation of intracellular signal transduction; and positive regulation of skeletal muscle tissue growth. Located in I band. Is expressed in embryo and trunk unsegmented mesenchyme. Used to study centronuclear myopathy. Human ortholog(s) of this gene implicated in congenital structural myopathy. Orthologous to human MTM1 (myotubularin 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in large intestine adult (RPKM 2.8), placenta adult (RPKM 2.7) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Mtm1 in Genome Data Viewer
    Location:
    X A7.2- A7.3; X 36.55 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (70254373..70359019)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (71210767..71315413)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene mastermind-like domain containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E7692 Neighboring gene STARR-seq mESC enhancer starr_47322 Neighboring gene predicted gene 14730 Neighboring gene STARR-seq mESC enhancer starr_47323 Neighboring gene myotubularin related protein 1 Neighboring gene STARR-seq mESC enhancer starr_47324 Neighboring gene CD99 antigen-like 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA4176

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables intermediate filament binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables intermediate filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-3-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-3-phosphate phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3-phosphate phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphoprotein phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphoprotein phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosome to lysosome transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in endosome to lysosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intermediate filament organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intermediate filament organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrion distribution IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within mitochondrion distribution IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrion distribution IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrion distribution ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrion organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in muscle cell cellular homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within muscle cell cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in muscle cell cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phosphatidylinositol dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phosphatidylinositol dephosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of skeletal muscle tissue growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein dephosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of vacuole organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of vacuole organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of skeletal muscle tissue growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in I band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in filopodium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in late endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ruffle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    myotubularin
    Names
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    NP_001157662.1
    NP_001157663.1
    NP_001157664.1
    NP_001157665.1
    NP_001412847.1
    NP_001412848.1
    NP_001412849.1
    NP_001412850.1
    NP_064310.2
    XP_006527953.1
    XP_030107106.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001164190.2NP_001157662.1  myotubularin isoform 1

      See identical proteins and their annotated locations for NP_001157662.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1-3 all encode the same isoform (1).
      Source sequence(s)
      AL731843, AL772294
      Consensus CDS
      CCDS30177.1
      UniProtKB/Swiss-Prot
      Q5BKQ5, Q9Z2C5
      UniProtKB/TrEMBL
      Q9D4L1
      Related
      ENSMUSP00000125798.2, ENSMUST00000171933.8
      Conserved Domains (2) summary
      pfam06602
      Location:150483
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:44143
      PH-like; Pleckstrin homology-like domain
    2. NM_001164191.2NP_001157663.1  myotubularin isoform 1

      See identical proteins and their annotated locations for NP_001157663.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 all encode the same isoform (1).
      Source sequence(s)
      AL731843, AL772294
      Consensus CDS
      CCDS30177.1
      UniProtKB/Swiss-Prot
      Q5BKQ5, Q9Z2C5
      UniProtKB/TrEMBL
      Q9D4L1
      Related
      ENSMUSP00000057182.6, ENSMUST00000061970.12
      Conserved Domains (2) summary
      pfam06602
      Location:150483
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:44143
      PH-like; Pleckstrin homology-like domain
    3. NM_001164192.2NP_001157664.1  myotubularin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AL731843, AL772294
      Consensus CDS
      CCDS53090.1
      UniProtKB/TrEMBL
      B1AW21, Q9D4L1
      Related
      ENSMUSP00000025391.5, ENSMUST00000025391.11
      Conserved Domains (2) summary
      pfam06602
      Location:150452
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:44143
      PH-like; Pleckstrin homology-like domain
    4. NM_001164193.2NP_001157665.1  myotubularin isoform 3

      See identical proteins and their annotated locations for NP_001157665.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL731843
      Consensus CDS
      CCDS53089.1
      UniProtKB/TrEMBL
      Q3UDN6
      Related
      ENSMUSP00000099040.4, ENSMUST00000101501.10
      Conserved Domains (1) summary
      cl17171
      Location:44143
      PH-like; Pleckstrin homology-like domain
    5. NM_001425918.1NP_001412847.1  myotubularin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL731843
    6. NM_001425919.1NP_001412848.1  myotubularin isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL731843, AL772294
      UniProtKB/TrEMBL
      Q9D4L1
    7. NM_001425920.1NP_001412849.1  myotubularin isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL731843, AL772294
      UniProtKB/TrEMBL
      Q3TLK7
    8. NM_001425921.1NP_001412850.1  myotubularin isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL731843, AL772294
      UniProtKB/TrEMBL
      Q9D4L1
    9. NM_019926.5NP_064310.2  myotubularin isoform 1

      See identical proteins and their annotated locations for NP_064310.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-3 all encode the same isoform (1).
      Source sequence(s)
      AL731843, AL772294
      Consensus CDS
      CCDS30177.1
      UniProtKB/Swiss-Prot
      Q5BKQ5, Q9Z2C5
      UniProtKB/TrEMBL
      Q9D4L1
      Related
      ENSMUSP00000110264.2, ENSMUST00000114617.2
      Conserved Domains (2) summary
      pfam06602
      Location:150483
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:44143
      PH-like; Pleckstrin homology-like domain

    RNA

    1. NR_189633.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL731843, AL772294
    2. NR_189634.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL731843, AL772294

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      70254373..70359019
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527890.2XP_006527953.1  myotubularin isoform X2

      UniProtKB/TrEMBL
      Q9D4L1
      Conserved Domains (2) summary
      pfam06602
      Location:151488
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:44143
      PH-like; Pleckstrin homology-like domain
    2. XM_030251246.1XP_030107106.1  myotubularin isoform X4

      UniProtKB/TrEMBL
      Q5DTJ6
      Conserved Domains (1) summary
      pfam06602
      Location:41352
      Myotub-related; Myotubularin-like phosphatase domain