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

Gene ID: 97287, updated on 14-Nov-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-3,5-bisphosphate 3-phosphatase activity and phosphatidylinositol-3-phosphate phosphatase activity. Predicted to be involved in dephosphorylation. 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, Nov 2024]
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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See Mtmr14 in Genome Data Viewer
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 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. Overexpression of MTMR14 induced learning and memory impairments in 2-month-old C57 mice. Feng Q, et al. Neurosci Lett, 2024 Mar 10. PMID 38401642
  2. Deficiency of MIP/MTMR14 phosphatase induces a muscle disorder by disrupting Ca(2+) homeostasis. Shen J, et al. Nat Cell Biol, 2009 Jun. PMID 19465920, Free PMC Article
  3. Muscle-specific inositide phosphatase (MIP/MTMR14) is reduced with age and its loss accelerates skeletal muscle aging process by altering calcium homeostasis. Romero-Suarez S, et al. Aging (Albany NY), 2010 Aug. PMID 20817957, Free PMC Article
  4. MIP/MTMR14 and muscle aging. Powers SK, et al. Aging (Albany NY), 2010 Sep. PMID 20834069, Free PMC Article
  5. Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle. Hnia K, et al. Adv Biol Regul, 2012 Jan. PMID 21930146

See all (34) 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)
  • Endonuclease-mediated (4) 
  • Gene trapped (1) 
  • Targeted (2)  1 citation

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-3,5-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 ISO
Inferred from Sequence Orthology
more info
  
enables phosphatidylinositol-3-phosphate phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in ruffle IEA
Inferred from Electronic Annotation
more info
  
located_in ruffle ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14; myotubularin-related protein 14
Names
mJumpy
phosphatidylinositol-3-phosphate phosphatase
NP_001349111.1
NP_001349112.1
NP_001349114.1
NP_081125.2
XP_006506887.1
XP_006506889.1
XP_006506890.1
XP_030111546.1
XP_030111547.1
XP_030111548.1
XP_036008311.1

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_001362182.1 → NP_001349111.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 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  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 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  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 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  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 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

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