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    Mtmr1 myotubularin related protein 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 317296, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mtmr1provided by RGD
    Official Full Name
    myotubularin related protein 1provided by RGD
    Primary source
    RGD:1306569
    See related
    EnsemblRapid:ENSRNOG00000002697 AllianceGenome:RGD:1306569
    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 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; phosphatidylinositol-3-phosphate phosphatase activity; and protein homodimerization activity. Predicted to be involved in phosphatidylinositol dephosphorylation and regulation of phosphatidylinositol dephosphorylation. Predicted to be located in plasma membrane. Predicted to be active in cytoplasm and membrane. Orthologous to human MTMR1 (myotubularin related protein 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Thymus (RPKM 113.2), Spleen (RPKM 103.1) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Mtmr1 in Genome Data Viewer
    Location:
    18p13
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 18 NC_086036.1 (229390..262893)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 18 NC_051353.1 (215031..248541)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 18 NC_005117.4 (291785..325415, complement)

    Chromosome 18 - NC_086036.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134482991 Neighboring gene FUN14 domain containing 2 Neighboring gene mature T-cell proliferation 1 Neighboring gene C-X9-C motif containing 4 Neighboring gene coagulation factor VIII Neighboring gene uncharacterized LOC134482992 Neighboring gene zinc finger protein 91, pseudogene 2 Neighboring gene U6 spliceosomal RNA Neighboring gene zinc finger protein 501-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity. Bong SM, et al. PLoS One, 2016. PMID 27018598, Free PMC Article
    2. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. Kim SA, et al. J Biol Chem, 2002 Feb 8. PMID 11733541
    3. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Buj-Bello A, et al. Hum Mol Genet, 2002 Sep 15. PMID 12217958
    4. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. Lorenzo O, et al. J Cell Sci, 2006 Jul 15. PMID 16787938
    5. FMRP recruitment of β-catenin to the translation pre-initiation complex represses translation. Ehyai S, et al. EMBO Rep, 2018 Dec. PMID 30361391, Free PMC Article

    See all (7) 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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    Markers

    Homology

    Gene Ontology Provided by RGD

    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 ISO
    Inferred from Sequence Orthology
    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 protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    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 regulation of phosphatidylinositol dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    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
    		  

    General protein information

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    Preferred Names
    myotubularin-related protein 1
    NP_001178654.1
    NP_001402624.1
    XP_038952863.1
    XP_038952865.1
    XP_038952867.1
    XP_038952868.1
    XP_038952869.1
    XP_063133525.1

    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_001191725.4 → NP_001178654.1  myotubularin-related protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000018
      UniProtKB/TrEMBL
      D3ZKK5
      Conserved Domains (2) summary
      cd13358
      Location:106 → 205
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:212 → 547
      Myotub-related; Myotubularin-like phosphatase domain

    2. NM_001415695.1 → NP_001402624.1  myotubularin-related protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000018
      UniProtKB/TrEMBL
      A0A0G2JUZ0
      Related
      ENSRNOP00000069284.1, ENSRNOT00000078032.3

    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_086036.1 Reference GRCr8

      Range
      229390..262893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039096941.2 → XP_038952869.1  myotubularin-related protein 1 isoform X6

      Conserved Domains (2) summary
      cd13358
      Location:131 → 230
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:247 → 387
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    2. XM_039096940.2 → XP_038952868.1  myotubularin-related protein 1 isoform X5

      Conserved Domains (2) summary
      cd13358
      Location:131 → 230
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:247 → 507
      Myotub-related; Myotubularin-like phosphatase domain

    3. XM_063277455.1 → XP_063133525.1  myotubularin-related protein 1 isoform X1

      Related
      ENSRNOP00000077609.2, ENSRNOT00000097796.2

    4. XM_039096935.2 → XP_038952863.1  myotubularin-related protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A8I5Y1D5
      Related
      ENSRNOP00000003638.5, ENSRNOT00000003638.8
      Conserved Domains (2) summary
      cd13358
      Location:123 → 222
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:239 → 566
      Myotub-related; Myotubularin-like phosphatase domain

    5. XM_039096937.2 → XP_038952865.1  myotubularin-related protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5Y1D5
      Conserved Domains (2) summary
      cd13358
      Location:55 → 154
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:171 → 498
      Myotub-related; Myotubularin-like phosphatase domain

    6. XM_039096939.2 → XP_038952867.1  myotubularin-related protein 1 isoform X4

      Conserved Domains (2) summary
      cd13358
      Location:38 → 137
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:154 → 481
      Myotub-related; Myotubularin-like phosphatase domain
    Nucleotide Protein Strain
    Heading Accession and Version

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