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    Mtmr1 myotubularin related protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 53332, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mtmr1provided by MGI
    Official Full Name
    myotubularin related protein 1provided by MGI
    Primary source
    MGI:MGI:1858271
    See related
    Ensembl:ENSMUSG00000015214 AllianceGenome:MGI:1858271
    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 phosphatidylinositol-3-phosphate phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation and regulation of phosphatidylinositol dephosphorylation. Located in cytoplasm and plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Orthologous to human MTMR1 (myotubularin related protein 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 7.3), frontal lobe adult (RPKM 4.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mtmr1 in Genome Data Viewer
    Location:
    X A7.3; X 36.75 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (70408332..70462802)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (71364760..71419196)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7692 Neighboring gene predicted gene 14730 Neighboring gene STARR-seq mESC enhancer starr_47322 Neighboring gene X-linked myotubular myopathy gene 1 Neighboring gene STARR-seq mESC enhancer starr_47323 Neighboring gene STARR-seq mESC enhancer starr_47324 Neighboring gene CD99 antigen-like 2 Neighboring gene ribosomal protein L36 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. 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
    2. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Laporte J, et al. Hum Mol Genet, 1998 Oct. PMID 9736772
    3. SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation. Blewitt ME, et al. Nat Genet, 2008 May. PMID 18425126
    4. Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain. Licatalosi DD, et al. Genes Dev, 2012 Jul 15. PMID 22802532, Free PMC Article
    5. Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes. Gendrel AV, et al. Mol Cell Biol, 2013 Aug. PMID 23754746, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3) 

    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 MGI

    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-3,5-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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3-phosphate phosphatase activity ISO
    Inferred from Sequence Orthology
    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 phosphatidylinositol dephosphorylation ISS
    Inferred from Sequence or Structural Similarity
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phosphatidylinositol-3-phosphate phosphatase MTMR1; myotubularin-related protein 1
    Names
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    NP_001300631.1
    NP_001300632.1
    NP_001300633.1
    NP_001300635.1
    NP_001300636.1
    NP_058681.1
    XP_006528199.1
    XP_006528200.1
    XP_036017901.1
    XP_036017902.1
    XP_036017903.1
    XP_036017904.1
    XP_036017905.1
    XP_036017906.1

    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_001313702.2 → NP_001300631.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 isoform D

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (D).
      Source sequence(s)
      AL772294
      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:145 → 244
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:251 → 586
      Myotub-related; Myotubularin-like phosphatase domain

    2. NM_001313703.2 → NP_001300632.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 isoform B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons compared to variant 4. The resulting isoform (B) has the same N- and C-termini but is shorter compared to isoform D.
      Source sequence(s)
      AL772294
      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:119 → 218
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:225 → 560
      Myotub-related; Myotubularin-like phosphatase domain

    3. NM_001313704.2 → NP_001300633.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 isoform C

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon compared to variant 4. The resulting isoform (C) has the same N- and C-termini but is shorter compared to isoform D.
      Source sequence(s)
      AL772294
      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:128 → 227
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:234 → 569
      Myotub-related; Myotubularin-like phosphatase domain

    4. NM_001313706.2 → NP_001300635.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 isoform E

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two in-frame exons compared to variant 4. The resulting isoform (E) has the same N- and C-termini but is shorter compared to isoform D.
      Source sequence(s)
      AL772294
      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:128 → 227
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:234 → 569
      Myotub-related; Myotubularin-like phosphatase domain

    5. NM_001313707.2 → NP_001300636.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 isoform F

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an in-frame exon compared to variant 4. The resulting isoform (F) has the same N- and C-termini but is shorter compared to isoform D.
      Source sequence(s)
      AL772294
      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:136 → 235
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:242 → 577
      Myotub-related; Myotubularin-like phosphatase domain

    6. NM_016985.3 → NP_058681.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 isoform A

      See identical proteins and their annotated locations for NP_058681.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks three in-frame exons compared to variant 4. The resulting isoform (A) has the same N- and C-termini but is shorter compared to isoform D.
      Source sequence(s)
      AL772294
      Consensus CDS
      CCDS30178.1
      UniProtKB/Swiss-Prot
      Q9Z2C4
      UniProtKB/TrEMBL
      I7HJQ9
      Related
      ENSMUSP00000015358.2, ENSMUST00000015358.8
      Conserved Domains (2) summary
      cd13358
      Location:111 → 210
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:217 → 552
      Myotub-related; Myotubularin-like phosphatase domain

    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
      70408332..70462802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162009.1 → XP_036017902.1  myotubularin-related protein 1 isoform X2

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:137 → 236
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:253 → 579
      Myotub-related; Myotubularin-like phosphatase domain

    2. XM_036162010.1 → XP_036017903.1  myotubularin-related protein 1 isoform X3

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:129 → 228
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:245 → 571
      Myotub-related; Myotubularin-like phosphatase domain

    3. XM_036162013.1 → XP_036017906.1  myotubularin-related protein 1 isoform X6

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:111 → 210
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd14592
      Location:244 → 488
      PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1

    4. XM_036162008.1 → XP_036017901.1  myotubularin-related protein 1 isoform X1

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:146 → 245
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:262 → 588
      Myotub-related; Myotubularin-like phosphatase domain

    5. XM_036162011.1 → XP_036017904.1  myotubularin-related protein 1 isoform X4

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:146 → 245
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd14592
      Location:279 → 523
      PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1

    6. XM_036162012.1 → XP_036017905.1  myotubularin-related protein 1 isoform X5

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:128 → 227
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd14592
      Location:261 → 505
      PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1

    7. XM_006528137.5 → XP_006528200.1  myotubularin-related protein 1 isoform X7

      See identical proteins and their annotated locations for XP_006528200.1

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:13 → 112
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:119 → 455
      Myotub-related; Myotubularin-like phosphatase domain

    8. XM_006528136.5 → XP_006528199.1  myotubularin-related protein 1 isoform X7

      See identical proteins and their annotated locations for XP_006528199.1

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:13 → 112
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:119 → 455
      Myotub-related; Myotubularin-like phosphatase domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z2C4.1 GenPept UniProtKB/Swiss-Prot:Q9Z2C4

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