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    mtm myotubularin [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 33845, updated on 9-Dec-2024

    Summary

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    Official Symbol
    mtmprovided by FlyBase
    Official Full Name
    myotubularinprovided by FlyBase
    Primary source
    FLYBASE:FBgn0025742
    Locus tag
    Dmel_CG9115
    See related
    AllianceGenome:FB:FBgn0025742
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG9115; Dmel\CG9115; dMTMH1; Mtm; mtm1; MTM1; MTM1/R1/R2
    Summary
    Enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity and phosphatidylinositol-3-phosphate phosphatase activity. Involved in several processes, including cortical actin cytoskeleton organization; endocytic recycling; and regulation of endocytic recycling. Located in cell cortex and membrane. Is expressed in adult head; embryonic hindgut; and organism. Used to study centronuclear myopathy X-linked and myopathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B1 and congenital structural myopathy. Orthologous to human MTM1 (myotubularin 1); MTMR1 (myotubularin related protein 1); and MTMR2 (myotubularin related protein 2). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See mtm in Genome Data Viewer
    Location:
    26B3-26B3; 2-18 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2L NT_033779.5 (6034731..6037015, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2L NT_033779.4 (6034731..6037015, complement)

    Chromosome 2L - NT_033779.5Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene Phosphoribosylformylglycinamidine synthase Neighboring gene mir-966 stem loop

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Huang W, et al. Genome Res, 2014 Jul. PMID 24714809, Free PMC Article
    2. Beyond mice: Emerging and transdisciplinary models for the study of early-onset myopathies. Jagla K, et al. Semin Cell Dev Biol, 2017 Apr. PMID 27670720
    3. Myotubularin phosphatases: policing 3-phosphoinositides. Robinson FL, et al. Trends Cell Biol, 2006 Aug. PMID 16828287
    4. Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. Collins MA, et al. Mol Biol Cell, 2017 Aug 15. PMID 28637766, Free PMC Article
    5. The inositol 5-phosphatase dOCRL controls PI(4,5)P2 homeostasis and is necessary for cytokinesis. Ben El Kadhi K, et al. Curr Biol, 2011 Jun 21. PMID 21658948

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphatidylinositol-3-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3-phosphate phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphoprotein phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein tyrosine/serine/threonine phosphatase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell projection assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cortical actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of regulation of actomyosin structure organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to wounding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    myotubularin
    Names
    CG9115-PA
    CG9115-PB
    mtm-PA
    mtm-PB
    NP_001285651.1
    NP_523489.1

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NT_033779.5 Reference assembly

      Range
      6034731..6037015 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001298722.1 → NP_001285651.1  myotubularin, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001285651.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      O96531, Q9VMI9
      Conserved Domains (2) summary
      cd13357
      Location:57 → 159
      PH-GRAM_MTMR2_insect-like; Myotubularian related 2 protein (MTMR2) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:184 → 509
      Myotub-related; Myotubularin-like phosphatase domain

    2. NM_078765.4 → NP_523489.1  myotubularin, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_523489.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      O96531, Q9VMI9
      Related
      FBpp0078854
      Conserved Domains (2) summary
      cd13357
      Location:57 → 159
      PH-GRAM_MTMR2_insect-like; Myotubularian related 2 protein (MTMR2) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:184 → 509
      Myotub-related; Myotubularin-like phosphatase domain
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7KPF5 Q7KPF5
    Q9VMI9 Q9VMI9

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