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    Mtmr7 myotubularin related protein 7 [ Mus musculus (house mouse) ]

    Gene ID: 54384, updated on 12-Apr-2024

    Summary

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    Official Symbol
    Mtmr7provided by MGI
    Official Full Name
    myotubularin related protein 7provided by MGI
    Primary source
    MGI:MGI:1891693
    See related
    Ensembl:ENSMUSG00000039431 AllianceGenome:MGI:1891693
    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
    Summary
    Enables inositol bisphosphate phosphatase activity. Acts upstream of or within inositol phosphate dephosphorylation and phosphatidylinositol dephosphorylation. Located in cytosol and membrane. Is expressed in several structures, including alimentary system; central nervous system; integumental system; peripheral nervous system ganglion; and sensory organ. Orthologous to human MTMR7 (myotubularin related protein 7). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in cerebellum adult (RPKM 9.2), CNS E18 (RPKM 9.0) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mtmr7 in Genome Data Viewer
    Location:
    8 A4; 8 23.89 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (41003184..41088210, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (40548199..40634935, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene microRNA 7666 Neighboring gene mitochondrial calcium uptake family, member 3 Neighboring gene zinc finger, DHHC domain containing 2 Neighboring gene CCR4-NOT transcription complex, subunit 7 Neighboring gene vacuolar protein sorting 37A Neighboring gene STARR-seq mESC enhancer starr_21271 Neighboring gene STARR-seq mESC enhancer starr_21272 Neighboring gene STARR-seq mESC enhancer starr_21273 Neighboring gene ADAM metallopeptidase domain 24 Neighboring gene high mobility group box 3 pseudogene

    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
    • 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. Myotubularin related protein 7 is essential for the spermatogonial stem cell homeostasis via PI3K/AKT signaling. Zhao D, et al. Cell Cycle, 2019 Oct. PMID 31478454, Free PMC Article
    2. Silencing myotubularin related protein 7 enhances proliferation and early differentiation of C2C12 myoblast. Yuan Z, et al. Biochem Biophys Res Commun, 2017 Mar 11. PMID 28153733
    3. Lipid phosphatases identified by screening a mouse phosphatase shRNA library regulate T-cell differentiation and protein kinase B AKT signaling. Guo L, et al. Proc Natl Acad Sci U S A, 2013 May 14. PMID 23630283, Free PMC Article
    4. Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. Mochizuki Y, et al. Proc Natl Acad Sci U S A, 2003 Aug 19. PMID 12890864, Free PMC Article
    5. Periphilin is strongly expressed in the murine nervous system and is indispensable for murine development. Soehn AS, et al. Genesis, 2009 Oct. PMID 19621438

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Myotubularin-related-protein-7 inhibits mutant (G12V) K-RAS by direct interaction.
      Title: Myotubularin-related-protein-7 inhibits mutant (G12V) K-RAS by direct interaction.
    2. MTMR7 suppresses the phenotypic switching of vascular smooth muscle cell and vascular intimal hyperplasia after injury via regulating p62/mTORC1-mediated glucose metabolism.
      Title: MTMR7 suppresses the phenotypic switching of vascular smooth muscle cell and vascular intimal hyperplasia after injury via regulating p62/mTORC1-mediated glucose metabolism.
    3. Myotubularin related protein 7 is essential for the spermatogonial stem cell homeostasis via PI3K/AKT signaling.
      Title: Myotubularin related protein 7 is essential for the spermatogonial stem cell homeostasis via PI3K/AKT signaling.
    4. The improved proliferation capacity was related to the increased phosphorylation of AKT. Taken together, our research demonstrates that MTMR7 plays an important role in proliferation and early differentiation of C2C12 myoblast.
      Title: Silencing myotubularin related protein 7 enhances proliferation and early differentiation of C2C12 myoblast.
    5. MTMR7 forms a complex with MTMR9 and dephosphorylates phosphatidylinositol 3-phosphate and Ins(1,3)P2 in neuronal cells.
      Title: Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    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 MGI

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol bisphosphate phosphatase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables phosphatidylinositol phosphate phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    myotubularin-related protein 7
    Names
    inositol 1,3-bisphosphate phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    NP_001035789.1
    NP_001412577.1
    XP_006509530.1
    XP_006509532.1
    XP_036010070.1

    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_001040699.2 → NP_001035789.1  myotubularin-related protein 7 isoform 1

      See identical proteins and their annotated locations for NP_001035789.1

      Status: VALIDATED

      Source sequence(s)
      AC121140
      Consensus CDS
      CCDS40324.1
      UniProtKB/Swiss-Prot
      Q8C4J6, Q9Z2C9
      Related
      ENSMUSP00000043851.11, ENSMUST00000048898.17
      Conserved Domains (2) summary
      cd13344
      Location:1 → 103
      PH-GRAM_MTMR7; Myotubularian (MTM) related 7 protein (MTMR7) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:109 → 446
      Myotub-related; Myotubularin-like phosphatase domain

    2. NM_001425648.1 → NP_001412577.1  myotubularin-related protein 7 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC121140

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      41003184..41088210 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154177.1 → XP_036010070.1  myotubularin-related protein 7 isoform X2

      Conserved Domains (1) summary
      cl28904
      Location:1 → 212
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    2. XM_006509467.5 → XP_006509530.1  myotubularin-related protein 7 isoform X2

      See identical proteins and their annotated locations for XP_006509530.1

      Conserved Domains (1) summary
      cl28904
      Location:1 → 212
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    3. XM_006509469.5 → XP_006509532.1  myotubularin-related protein 7 isoform X3

      Conserved Domains (1) summary
      pfam06602
      Location:1 → 151
      Myotub-related; Myotubularin-like phosphatase domain

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_019433.1: Suppressed sequence

      Description
      NM_019433.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z2C9.2 GenPept UniProtKB/Swiss-Prot:Q9Z2C9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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