U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 53332, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 7.3), frontal lobe adult (RPKM 4.3) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    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

    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)

    NEW Try the new Transcript table

    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_001313702.2NP_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:145244
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:251586
      Myotub-related; Myotubularin-like phosphatase domain
    2. NM_001313703.2NP_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:119218
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:225560
      Myotub-related; Myotubularin-like phosphatase domain
    3. NM_001313704.2NP_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:128227
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:234569
      Myotub-related; Myotubularin-like phosphatase domain
    4. NM_001313706.2NP_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:128227
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:234569
      Myotub-related; Myotubularin-like phosphatase domain
    5. NM_001313707.2NP_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:136235
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:242577
      Myotub-related; Myotubularin-like phosphatase domain
    6. NM_016985.3NP_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:111210
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:217552
      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_036162009.1XP_036017902.1  myotubularin-related protein 1 isoform X2

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:137236
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:253579
      Myotub-related; Myotubularin-like phosphatase domain
    2. XM_036162010.1XP_036017903.1  myotubularin-related protein 1 isoform X3

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:129228
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:245571
      Myotub-related; Myotubularin-like phosphatase domain
    3. XM_036162013.1XP_036017906.1  myotubularin-related protein 1 isoform X6

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:111210
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd14592
      Location:244488
      PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1
    4. XM_036162008.1XP_036017901.1  myotubularin-related protein 1 isoform X1

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:146245
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:262588
      Myotub-related; Myotubularin-like phosphatase domain
    5. XM_036162011.1XP_036017904.1  myotubularin-related protein 1 isoform X4

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:146245
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd14592
      Location:279523
      PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1
    6. XM_036162012.1XP_036017905.1  myotubularin-related protein 1 isoform X5

      UniProtKB/TrEMBL
      I7HJQ9
      Conserved Domains (2) summary
      cd13358
      Location:128227
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd14592
      Location:261505
      PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1
    7. XM_006528137.5XP_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:13112
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:119455
      Myotub-related; Myotubularin-like phosphatase domain
    8. XM_006528136.5XP_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:13112
      PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:119455
      Myotub-related; Myotubularin-like phosphatase domain