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    Mtmr12 myotubularin related protein 12 [ Mus musculus (house mouse) ]

    Gene ID: 268783, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Mtmr12provided by MGI
    Official Full Name
    myotubularin related protein 12provided by MGI
    Primary source
    MGI:MGI:2443034
    See related
    Ensembl:ENSMUSG00000039458 AllianceGenome:MGI:2443034
    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
    3Pap; Pip3ap; mKIAA1682; 4932703C11; C730015A02Rik
    Summary
    Predicted to enable phosphatidylinositol-3-phosphate phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Predicted to be located in sarcomere and sarcoplasmic reticulum. Predicted to be active in cytoplasm and membrane. Orthologous to human MTMR12 (myotubularin related protein 12). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 13.2), testis adult (RPKM 11.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mtmr12 in Genome Data Viewer
    Location:
    15 A1; 15 5.9 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (12205056..12272326)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (12204970..12272240)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene zinc finger RNA binding protein Neighboring gene predicted gene 2573 Neighboring gene STARR-positive B cell enhancer ABC_E2438 Neighboring gene ribosomal protein S29 pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:12160369-12160618 Neighboring gene predicted gene, 46497 Neighboring gene STARR-seq mESC enhancer starr_38019 Neighboring gene predicted gene, 52210 Neighboring gene golgi phosphoprotein 3

    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. CCT chaperonin complex is required for efficient delivery of anthrax toxin into the cytosol of host cells. Slater LH, et al. Proc Natl Acad Sci U S A, 2013 Jun 11. PMID 23716698, Free PMC Article
    2. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 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, 2003 Feb 28. PMID 12693553
    3. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
    4. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808
    5. A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Hansen J, et al. Proc Natl Acad Sci U S A, 2003 Aug 19. PMID 12904583, Free PMC Article

    See all (22) 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 (1) 
    • Targeted (2) 

    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 phosphatidylinositol-3-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sarcomere IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myotubularin-related protein 12
    Names
    inactive phosphatidylinositol 3-phosphatase 12
    phosphatidylinositol-3 phosphate 3-phosphatase adaptor subunit
    phosphatidylinositol-3-phosphatase associated protein

    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_001356498.1 → NP_001343427.1  myotubularin-related protein 12 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC150560
      Conserved Domains (2) summary
      pfam12578
      Location:360 → 482
      3-PAP; Myotubularin-associated protein
      cl21483
      Location:21 → 293
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

    2. NM_172958.4 → NP_766546.1  myotubularin-related protein 12 isoform 1

      See identical proteins and their annotated locations for NP_766546.1

      Status: VALIDATED

      Source sequence(s)
      AC150560
      Consensus CDS
      CCDS27388.1
      UniProtKB/Swiss-Prot
      Q80TA6, Q8BVX4, Q8C0P1
      Related
      ENSMUSP00000041227.9, ENSMUST00000038172.16
      Conserved Domains (3) summary
      pfam12578
      Location:561 → 685
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:26 → 204
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:210 → 496
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      12205056..12272326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017316630.3 → XP_017172119.1  myotubularin-related protein 12 isoform X1

      Conserved Domains (3) summary
      cd14594
      Location:109 → 311
      PTP-MTMR12; protein tyrosine phosphatase-like pseudophosphatase domain of myotubularin related phosphoinositide phosphatase 12
      pfam12578
      Location:410 → 534
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:14 → 53
      PH-like; Pleckstrin homology-like domain

    RNA

    1. XR_001781539.2 RNA Sequence

      Related
      ENSMUST00000174160.3
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80TA6.2 GenPept UniProtKB/Swiss-Prot:Q80TA6

    Gene LinkOut

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

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