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    Mtmr4 myotubularin related protein 4 [ Mus musculus (house mouse) ]

    Gene ID: 170749, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mtmr4provided by MGI
    Official Full Name
    myotubularin related protein 4provided by MGI
    Primary source
    MGI:MGI:2180699
    See related
    Ensembl:ENSMUSG00000018401 AllianceGenome:MGI:2180699
    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
    Also known as
    ESTM44; ZFYVE11; FYVE-DSP2; mKIAA0647
    Summary
    Predicted to enable molecular adaptor activity; phosphatase activity; and protein phosphatase binding activity. Predicted to be involved in several processes, including midbody abscission; phosphatidylinositol dephosphorylation; and regulation of phosphatidylinositol dephosphorylation. Predicted to be located in endosome. Predicted to be active in early phagosome membrane and endosome membrane. Is expressed in several structures, including central nervous system and retina nuclear layer. Orthologous to human MTMR4 (myotubularin related protein 4). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 12.2), CNS E18 (RPKM 11.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mtmr4 in Genome Data Viewer
    Location:
    11 C; 11 52.15 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (87482769..87507128)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (87591954..87616302)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene testis expressed gene 14 intercellular bridge forming factor Neighboring gene predicted gene, 34000 Neighboring gene septin 4 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:87405102-87405211 Neighboring gene STARR-positive B cell enhancer ABC_E68 Neighboring gene STARR-seq mESC enhancer starr_30293 Neighboring gene heat shock transcription factor family member 5 Neighboring gene STARR-positive B cell enhancer ABC_E5260 Neighboring gene STARR-seq mESC enhancer starr_30296 Neighboring gene ring finger protein 43 Neighboring gene predicted gene, 25968

    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. The myotubularin MTMR4 regulates phagosomal phosphatidylinositol 3-phosphate turnover and phagocytosis. Sheffield DA, et al. J Biol Chem, 2019 Nov 8. PMID 31543504, Free PMC Article
    2. PtdIns3P phosphatases MTMR3 and MTMR4 negatively regulate innate immune responses to DNA through modulating STING trafficking. Dewi Pamungkas Putri D, et al. J Biol Chem, 2019 May 24. PMID 30944173, Free PMC Article
    3. In vivo validation of late-onset Alzheimer's disease genetic risk factors. Sasner M, et al. Alzheimers Dement, 2024 Jul. PMID 38687251, Free PMC Article
    4. Physical and transcriptional map of a 3-Mb region of mouse chromosome 1 containing the gene for the neural tube defect mutant loop-tail (Lp). Eddleston J, et al. Genomics, 1999 Mar 1. PMID 10051400
    5. Prediction of the coding sequences of mouse homologues of KIAA gene: I. The complete nucleotide sequences of 100 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2002 Oct 31. PMID 12465718

    See all (26) 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)  1 citation
    • Targeted (1) 

    Pathways from PubChem

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    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 histone H2AXY142 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables non-membrane spanning protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein phosphatase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein serine/threonine phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein tyrosine phosphatase activity, metal-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in midbody abscission ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of BMP signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of endocytic recycling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phagosome maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    involved_in response to denervation involved in regulation of muscle adaptation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in early phagosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4; myotubularin-related protein 4
    Names
    FYVE zinc finger phosphatase
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    NP_001344830.1
    NP_001389514.1
    NP_001389515.1
    NP_001389516.1
    NP_001389517.1
    NP_001389518.1
    NP_001389519.1
    NP_001389520.1
    NP_001389521.1
    NP_001389522.1
    NP_001389523.1
    NP_573478.1
    XP_036012263.1

    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_001357901.1 → NP_001344830.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
      Source sequence(s)
      AK133861, AK146641, BC058091, BF470538, BY263784, CO041663
      Consensus CDS
      CCDS88215.1
      Related
      ENSMUSP00000090478.6, ENSMUST00000092802.12
      Conserved Domains (3) summary
      cd13342
      Location:23 → 136
      PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd15733
      Location:1049 → 1108
      FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
      pfam06602
      Location:160 → 496
      Myotub-related; Myotubularin-like phosphatase domain

    2. NM_001402585.1 → NP_001389514.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596086
      UniProtKB/Swiss-Prot
      Q5ND06, Q5ND08, Q91XS1

    3. NM_001402586.1 → NP_001389515.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596086
      UniProtKB/Swiss-Prot
      Q5ND06, Q5ND08, Q91XS1

    4. NM_001402587.1 → NP_001389516.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596086
      UniProtKB/Swiss-Prot
      Q5ND06, Q5ND08, Q91XS1

    5. NM_001402588.1 → NP_001389517.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596086
      UniProtKB/Swiss-Prot
      Q5ND06, Q5ND08, Q91XS1
      Related
      ENSMUSP00000112902.2, ENSMUST00000119628.8

    6. NM_001402589.1 → NP_001389518.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596086
      UniProtKB/Swiss-Prot
      Q5ND06, Q5ND08, Q91XS1

    7. NM_001402590.1 → NP_001389519.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596086
      UniProtKB/Swiss-Prot
      Q5ND06, Q5ND08, Q91XS1

    8. NM_001402591.1 → NP_001389520.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596086
      UniProtKB/Swiss-Prot
      Q5ND06, Q5ND08, Q91XS1

    9. NM_001402592.1 → NP_001389521.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL596086
      UniProtKB/Swiss-Prot
      Q5ND06, Q5ND08, Q91XS1

    10. NM_001402593.1 → NP_001389522.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL596086

    11. NM_001402594.1 → NP_001389523.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL596086

    12. NM_133215.2 → NP_573478.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform 1

      See identical proteins and their annotated locations for NP_573478.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK133861, AK146641, BC058091, BF470538, BY263784, CO041663
      Consensus CDS
      CCDS25214.1
      UniProtKB/Swiss-Prot
      Q5ND06, Q5ND08, Q91XS1
      Related
      ENSMUSP00000099468.4, ENSMUST00000103179.10
      Conserved Domains (4) summary
      cd13342
      Location:23 → 136
      PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd15733
      Location:1106 → 1165
      FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
      cd14587
      Location:172 → 479
      PTP-MTMR4; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 4
      pfam03154
      Location:729 → 849
      Atrophin-1; Atrophin-1 family

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      87482769..87507128
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036156370.1 → XP_036012263.1  myotubularin-related protein 4 isoform X3

      Conserved Domains (3) summary
      cd15733
      Location:1076 → 1135
      FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
      cd14587
      Location:142 → 449
      PTP-MTMR4; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 4
      cl17171
      Location:2 → 106
      PH-like; Pleckstrin homology-like domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91XS1.1 GenPept UniProtKB/Swiss-Prot:Q91XS1

    Gene LinkOut

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