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    MTMR7 myotubularin related protein 7 [ Homo sapiens (human) ]

    Gene ID: 9108, updated on 23-Nov-2021

    Summary

    Official Symbol
    MTMR7provided by HGNC
    Official Full Name
    myotubularin related protein 7provided by HGNC
    Primary source
    HGNC:HGNC:7454
    See related
    Ensembl:ENSG00000003987 MIM:603562
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in brain (RPKM 4.2), thyroid (RPKM 1.7) and 24 other tissues See more
    Orthologs
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    Genomic context

    See MTMR7 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (17296128..17413353, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17154303..17270860, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986918 Neighboring gene zinc finger DHHC-type palmitoyltransferase 2 Neighboring gene CCR4-NOT transcription complex subunit 7 Neighboring gene VPS37A subunit of ESCRT-I Neighboring gene uncharacterized LOC102724838 Neighboring gene ADAM metallopeptidase domain 24, pseudogene Neighboring gene solute carrier family 7 member 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC163449, MGC163451, DKFZp781E194

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables inositol bisphosphate phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    enables phosphatidylinositol-3-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphatidylinositol-3-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in inositol phosphate dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein dephosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    myotubularin-related protein 7
    Names
    inositol 1,3-bisphosphate phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    NP_004677.3
    XP_006716477.2
    XP_011542995.1
    XP_016869445.1
    XP_024303093.1

    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_004686.5NP_004677.3  myotubularin-related protein 7

      See identical proteins and their annotated locations for NP_004677.3

      Status: REVIEWED

      Source sequence(s)
      AC124074, AK316022, AK316283, AW014721, BC130579
      Consensus CDS
      CCDS34851.1
      UniProtKB/Swiss-Prot
      Q9Y216
      UniProtKB/TrEMBL
      B7Z9Q7, B7ZAG8
      Related
      ENSP00000180173.4, ENST00000180173.10
      Conserved Domains (2) summary
      cd13344
      Location:1103
      PH-GRAM_MTMR7; Myotubularian (MTM) related 7 protein (MTMR7) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:109446
      Myotub-related; Myotubularin-like phosphatase domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      17296128..17413353 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013956.2XP_016869445.1  myotubularin-related protein 7 isoform X3

    2. XM_024447325.1XP_024303093.1  myotubularin-related protein 7 isoform X1

      Conserved Domains (1) summary
      pfam06602
      Location:1227
      Myotub-related; Myotubularin-like phosphatase domain
    3. XM_011544693.2XP_011542995.1  myotubularin-related protein 7 isoform X2

      See identical proteins and their annotated locations for XP_011542995.1

      Conserved Domains (1) summary
      pfam06602
      Location:8209
      Myotub-related; Myotubularin-like phosphatase domain
    4. XM_006716414.3XP_006716477.2  myotubularin-related protein 7 isoform X2

      See identical proteins and their annotated locations for XP_006716477.2

      Conserved Domains (1) summary
      pfam06602
      Location:8209
      Myotub-related; Myotubularin-like phosphatase domain
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