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

Gene ID: 17772, updated on 2-Nov-2024

Summary

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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
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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

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Related articles in PubMed

  1. MTM1-mediated production of phosphatidylinositol 5-phosphate fuels the formation of podosome-like protrusions regulating myoblast fusion. Mansat M, et al. Proc Natl Acad Sci U S A, 2024 Jun 4. PMID 38805272, Free PMC Article
  2. Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Childers MK, et al. Sci Transl Med, 2014 Jan 22. PMID 24452262, Free PMC Article
  3. Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo. Amoasii L, et al. J Cell Sci, 2013 Apr 15. PMID 23444364
  4. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Lawlor MW, et al. Hum Mol Genet, 2013 Apr 15. PMID 23307925, Free PMC Article
  5. Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. Jungbluth H, et al. Neuromuscul Disord, 2003 Jan. PMID 12467733

See all (63) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MTM1-mediated production of phosphatidylinositol 5-phosphate fuels the formation of podosome-like protrusions regulating myoblast fusion.
    Title: MTM1-mediated production of phosphatidylinositol 5-phosphate fuels the formation of podosome-like protrusions regulating myoblast fusion.
  2. BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
    Title: BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
  3. Disrupted T-tubular network accounts for asynchronous calcium release in MTM1-deficient skeletal muscle.
    Title: Disrupted T-tubular network accounts for asynchronous calcium release in MTM1-deficient skeletal muscle.
  4. Expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy.
    Title: Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
  5. deletion of MTM1 in mouse had no significant effect on platelet count and on platelet secretion and aggregation induced by thrombin or collagen stimulation.
    Title: Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.
  6. Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1
    Title: Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.
  7. MTM1 interacts with BIN1 in skeletal muscle.
    Title: The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
  8. Data show that the IGF1R/Akt pathway is affected in phosphoinositide phosphatase myotubularin (MTM1)-deficient muscles.
    Title: Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
  9. Deletion of the Mtm1 gene in a mature muscle reproduces the pathological hallmarks of myotubular myopathy.
    Title: Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.
  10. study reveal a direct function of MTM1 enzymatic activity in SR remodeling and a key role for PtdIns3P in promoting SR membrane curvature in skeletal muscle.
    Title: Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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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)

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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_001164190.2 → NP_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:150 → 483
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44 → 143
    PH-like; Pleckstrin homology-like domain

  2. NM_001164191.2 → NP_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:150 → 483
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44 → 143
    PH-like; Pleckstrin homology-like domain

  3. NM_001164192.2 → NP_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:150 → 452
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44 → 143
    PH-like; Pleckstrin homology-like domain

  4. NM_001164193.2 → NP_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:44 → 143
    PH-like; Pleckstrin homology-like domain

  5. NM_001425918.1 → NP_001412847.1  myotubularin isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL731843

  6. NM_001425919.1 → NP_001412848.1  myotubularin isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL731843, AL772294

  7. NM_001425920.1 → NP_001412849.1  myotubularin isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL731843, AL772294

  8. NM_001425921.1 → NP_001412850.1  myotubularin isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL731843, AL772294

  9. NM_019926.5 → NP_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:150 → 483
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44 → 143
    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_006527890.2 → XP_006527953.1  myotubularin isoform X2

    UniProtKB/TrEMBL
    Q9D4L1
    Conserved Domains (2) summary
    pfam06602
    Location:151 → 488
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44 → 143
    PH-like; Pleckstrin homology-like domain

  2. XM_030251246.1 → XP_030107106.1  myotubularin isoform X4

    UniProtKB/TrEMBL
    Q5DTJ6
    Conserved Domains (1) summary
    pfam06602
    Location:41 → 352
    Myotub-related; Myotubularin-like phosphatase domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Z2C5.2 GenPept UniProtKB/Swiss-Prot:Q9Z2C5

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