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    Mtmr14 myotubularin related protein 14 [ Mus musculus (house mouse) ]

    Gene ID: 97287, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Mtmr14provided by MGI
    Official Full Name
    myotubularin related protein 14provided by MGI
    Primary source
    MGI:MGI:1916075
    See related
    Ensembl:ENSMUSG00000030269 AllianceGenome:MGI:1916075
    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
    1110061O04Rik
    Summary
    Predicted to enable phosphatidylinositol-3-phosphatase activity. Predicted to be located in perinuclear region of cytoplasm and ruffle. Is expressed in cerebral cortex and retina. Human ortholog(s) of this gene implicated in centronuclear myopathy 1. Orthologous to human MTMR14 (myotubularin related protein 14). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary adult (RPKM 18.6), thymus adult (RPKM 14.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 E3; 6 52.74 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (113214596..113258353)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (113237635..113281392)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_17032 Neighboring gene STARR-seq mESC enhancer starr_17033 Neighboring gene SET domain containing 5 Neighboring gene lipoma HMGIC fusion partner-like protein 4 Neighboring gene STARR-positive B cell enhancer ABC_E683 Neighboring gene STARR-seq mESC enhancer starr_17036 Neighboring gene STARR-positive B cell enhancer ABC_E237 Neighboring gene copine family member IX Neighboring gene bromodomain and PHD finger containing, 1

    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. MTMR14 protects against hepatic ischemia-reperfusion injury through interacting with AKT signaling in vivo and in vitro. Li S, et al. Biomed Pharmacother, 2020 Sep. PMID 32768948
    2. Myotubularin-related protein 14 suppresses cardiac hypertrophy by inhibiting Akt. Zhang JL, et al. Cell Death Dis, 2020 Feb 20. PMID 32080168, Free PMC Article
    3. Deficiency of MTMR14 impairs male fertility in Mus musculus. Wen N, et al. PLoS One, 2018. PMID 30412589, Free PMC Article
    4. Mice lacking myotubularin-related protein 14 show accelerated high-fat diet-induced lipid accumulation and inflammation. Yin L, et al. J Physiol Biochem, 2017 Feb. PMID 27807764
    5. Deficiency of MTMR14 promotes autophagy and proliferation of mouse embryonic fibroblasts. Liu J, et al. Mol Cell Biochem, 2014 Jul. PMID 24623267

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of MTMR14 induced learning and memory impairments in 2-month-old C57 mice.
      Title: Overexpression of MTMR14 induced learning and memory impairments in 2-month-old C57 mice.
    2. Myotubularin-Related Protein14 Prevents Neointima Formation and Vascular Smooth Muscle Cell Proliferation by Inhibiting Polo-Like Kinase1.
      Title: Myotubularin-Related Protein14 Prevents Neointima Formation and Vascular Smooth Muscle Cell Proliferation by Inhibiting Polo-Like Kinase1.
    3. Myotubularin-related protein 14 suppresses cardiac hypertrophy by inhibiting Akt.
      Title: Myotubularin-related protein 14 suppresses cardiac hypertrophy by inhibiting Akt.
    4. MTMR14 protects against hepatic ischemia-reperfusion injury through interacting with AKT signaling in vivo and in vitro.
      Title: MTMR14 protects against hepatic ischemia-reperfusion injury through interacting with AKT signaling in vivo and in vitro.
    5. MTMR14 protects against cerebral stroke through suppressing PTEN-regulated autophagy.
      Title: MTMR14 protects against cerebral stroke through suppressing PTEN-regulated autophagy.
    6. MTMR14 deletion impairs male fertility by causing decreased muscle force of the vas deferens and intracellular calcium imbalance.
      Title: Deficiency of MTMR14 impairs male fertility in Mus musculus.
    7. Data (including data from studies in knockout mice) suggest that Mtmr14 plays role in lipid metabolism and inflammation in liver, skeletal muscle, and adipose tissue in obesity induced by high-fat diet (HFD); here, Mtmr14 deficiency in knockout mice accelerates HFD-induced inflammation and metabolic dysfunction (obesity, hyperglycemia, and hyperlipidemia).
      Title: Mice lacking myotubularin-related protein 14 show accelerated high-fat diet-induced lipid accumulation and inflammation.
    8. propose that defect of MTMR14 promotes autophagy and cell proliferation in MEFs
      Title: Deficiency of MTMR14 promotes autophagy and proliferation of mouse embryonic fibroblasts.
    9. In young Mtmr14 KO mice (12 weeks). The T-tubule dysmorphology (swollen and elongated) could explain, in part, the defects in Ca2thorn excitationcontraction machinery observed in previous studies.
      Title: Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle.
    10. a knockout mice were more susceptible to exercise-induced muscle damage, a trademark of muscle functional changes in older subjects
      Title: Muscle-specific inositide phosphatase (MIP/MTMR14) is reduced with age and its loss accelerates skeletal muscle aging process by altering calcium homeostasis.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (2)  1 citation
    • Endonuclease-mediated (4) 

    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 hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ruffle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    myotubularin-related protein 14
    Names
    mJumpy

    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_001362182.1 → NP_001349111.1  myotubularin-related protein 14 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC153592, AC155287
      Conserved Domains (2) summary
      cd13213
      Location:127 → 243
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl21483
      Location:280 → 385
      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_001362183.1 → NP_001349112.1  myotubularin-related protein 14 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC153592, AC155287
      Conserved Domains (2) summary
      cd13213
      Location:7 → 123
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl21483
      Location:160 → 265
      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 ...

    3. NM_001362185.1 → NP_001349114.1  myotubularin-related protein 14 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC153592, AC155287
      Conserved Domains (2) summary
      cl17171
      Location:38 → 59
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:96 → 201
      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 ...

    4. NM_026849.2 → NP_081125.2  myotubularin-related protein 14 isoform 1

      See identical proteins and their annotated locations for NP_081125.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BB256623, CD805346, CX207820, DV648379, DV653288, DV653632
      Consensus CDS
      CCDS20412.2
      UniProtKB/Swiss-Prot
      Q8VEL2
      Related
      ENSMUSP00000108771.3, ENSMUST00000113146.9
      Conserved Domains (2) summary
      cd13213
      Location:127 → 243
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:293 → 386
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    RNA

    1. NR_155432.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153592, AC155287

    2. NR_155433.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153592, AC155287, AK161445

    3. NR_155434.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153592, AC155287, AK034867
      Related
      ENSMUST00000129883.8

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      113214596..113258353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006506824.4 → XP_006506887.1  myotubularin-related protein 14 isoform X1

      Conserved Domains (2) summary
      cd13213
      Location:127 → 243
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:293 → 386
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    2. XM_006506826.4 → XP_006506889.1  myotubularin-related protein 14 isoform X2

      Conserved Domains (2) summary
      cd13213
      Location:127 → 243
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:293 → 386
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    3. XM_006506827.4 → XP_006506890.1  myotubularin-related protein 14 isoform X4

      Conserved Domains (2) summary
      cl17171
      Location:1 → 30
      PH-like; Pleckstrin homology-like domain
      cl28904
      Location:80 → 173
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    4. XM_030255686.1 → XP_030111546.1  myotubularin-related protein 14 isoform X3

      Conserved Domains (2) summary
      cd13213
      Location:7 → 123
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:173 → 266
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    5. XM_036152418.1 → XP_036008311.1  myotubularin-related protein 14 isoform X5

      Conserved Domains (2) summary
      cd13213
      Location:7 → 123
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:173 → 266
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    6. XM_030255687.1 → XP_030111547.1  myotubularin-related protein 14 isoform X4

      Conserved Domains (2) summary
      cl17171
      Location:1 → 30
      PH-like; Pleckstrin homology-like domain
      cl28904
      Location:80 → 173
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    7. XM_030255688.2 → XP_030111548.1  myotubularin-related protein 14 isoform X6

      Conserved Domains (1) summary
      cl28904
      Location:49 → 142
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    RNA

    1. XR_001785185.2 RNA Sequence

    2. XR_377503.4 RNA Sequence

    3. XR_003956267.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VEL2.2 GenPept UniProtKB/Swiss-Prot:Q8VEL2

    Gene LinkOut

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

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