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

Gene ID: 268783, updated on 27-Nov-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 be involved in phosphatidylinositol dephosphorylation. Predicted to be located in sarcomere and sarcoplasmic reticulum. Predicted to be active in cytoplasm. Orthologous to human MTMR12 (myotubularin related protein 12). [provided by Alliance of Genome Resources, Nov 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

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