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

    Gene ID: 97287, updated on 23-Jun-2021

    Summary

    Official Symbol
    Mtmr14provided by MGI
    Official Full Name
    myotubularin related protein 14provided by MGI
    Primary source
    MGI:MGI:1916075
    See related
    Ensembl:ENSMUSG00000030269
    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
    C76151; AW553738; 1110061O04Rik
    Expression
    Ubiquitous expression in ovary adult (RPKM 18.6), thymus adult (RPKM 14.9) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Mtmr14 in Genome Data Viewer
    Location:
    6; 6 E3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (113187837..113231386)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene SET domain containing 5 Neighboring gene lipoma HMGIC fusion partner-like protein 4 Neighboring gene copine family member IX Neighboring gene bromodomain and PHD finger containing, 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-3-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphatidylinositol-3-phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein tyrosine phosphatase activity 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

    Preferred Names
    myotubularin-related protein 14
    Names
    mJumpy

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001362182.1NP_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:127243
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl21483
      Location:280385
      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_001362183.1NP_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:7123
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl21483
      Location:160265
      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_001362185.1NP_001349114.1  myotubularin-related protein 14 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC153592, AC155287
      Conserved Domains (2) summary
      cl17171
      Location:3859
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:96201
      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_026849.2NP_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 (1) summary
      cd13213
      Location:127243
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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_006506824.4XP_006506887.1  myotubularin-related protein 14 isoform X1

      Conserved Domains (2) summary
      cd13213
      Location:127243
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:293386
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    2. XM_006506826.4XP_006506889.1  myotubularin-related protein 14 isoform X2

      Conserved Domains (2) summary
      cd13213
      Location:127243
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:293386
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    3. XM_006506827.4XP_006506890.1  myotubularin-related protein 14 isoform X4

      Conserved Domains (2) summary
      cl17171
      Location:130
      PH-like; Pleckstrin homology-like domain
      cl28904
      Location:80173
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    4. XM_030255686.1XP_030111546.1  myotubularin-related protein 14 isoform X3

      Conserved Domains (2) summary
      cd13213
      Location:7123
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:173266
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    5. XM_036152418.1XP_036008311.1  myotubularin-related protein 14 isoform X5

      Conserved Domains (2) summary
      cd13213
      Location:7123
      PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cl28904
      Location:173266
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    6. XM_030255687.1XP_030111547.1  myotubularin-related protein 14 isoform X4

      Conserved Domains (2) summary
      cl17171
      Location:130
      PH-like; Pleckstrin homology-like domain
      cl28904
      Location:80173
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    7. XM_030255688.2XP_030111548.1  myotubularin-related protein 14 isoform X6

      Conserved Domains (1) summary
      cl28904
      Location:49142
      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

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