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

    Gene ID: 9108, updated on 9-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:7454
    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
    mouse all
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    Genomic context

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    See MTMR7 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (17296794..17413351, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (17564397..17680622, complement)
    RS_2024_09 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 NANOG hESC enhancer GRCh37_chr8:17090642-17091144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17104115-17104963 Neighboring gene CCR4-NOT transcription complex subunit 7 Neighboring gene VPS37A subunit of ESCRT-I Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102346 Neighboring gene Sharpr-MPRA regulatory region 2048 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:17193352-17194551 Neighboring gene uncharacterized LOC102724838 Neighboring gene Sharpr-MPRA regulatory region 14094 Neighboring gene ADAM metallopeptidase domain 24, pseudogene Neighboring gene solute carrier family 7 member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17394687-17395188 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17395189-17395688

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Myotubularin-related protein 7 inhibits insulin signaling in colorectal cancer. Weidner P, et al. Oncotarget, 2016 Aug 2. PMID 27409167, Free PMC Article
    2. The myotubularin family: from genetic disease to phosphoinositide metabolism. Laporte J, et al. Trends Genet, 2001 Apr. PMID 11275328
    3. Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Laporte J, et al. Hum Mol Genet, 2003 Oct 15. PMID 12925573
    4. Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. Sanchez-Juan P, et al. Neurobiol Aging, 2012 Jul. PMID 22137330
    5. Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. Mochizuki Y, et al. Proc Natl Acad Sci U S A, 2003 Aug 19. PMID 12890864, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MTMR7 has a role inhibiting insulin signaling in colorectal cancer
      Title: Myotubularin-related protein 7 inhibits insulin signaling in colorectal cancer.
    2. The MTMR7 gene is linked to variant Creutzfeldt-Jakob risk in a genome-wide study.
      Title: Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    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-3,5-bisphosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein tyrosine phosphatase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol-3-phosphate phosphatase MTMR7; myotubularin-related protein 7
    Names
    inositol 1,3-bisphosphate phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    NP_004677.3
    XP_006716477.2
    XP_011542995.1
    XP_047278363.1
    XP_047278364.1
    XP_054217456.1
    XP_054217457.1
    XP_054217458.1
    XP_054217459.1

    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_004686.5 → NP_004677.3  phosphatidylinositol-3-phosphate phosphatase MTMR7

      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
      A1L4K9, B4DG87, Q68DX4, Q9Y216
      UniProtKB/TrEMBL
      B7Z9Q7, B7ZAG8
      Related
      ENSP00000180173.4, ENST00000180173.10
      Conserved Domains (2) summary
      cd13344
      Location:1 → 103
      PH-GRAM_MTMR7; Myotubularian (MTM) related 7 protein (MTMR7) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd14583
      Location:132 → 433
      PTP-MTMR7; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      17296794..17413351 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422407.1 → XP_047278363.1  myotubularin-related protein 7 isoform X1

      UniProtKB/TrEMBL
      B7Z9Q7

    2. XM_011544693.3 → XP_011542995.1  myotubularin-related protein 7 isoform X3

      See identical proteins and their annotated locations for XP_011542995.1

      Conserved Domains (1) summary
      pfam06602
      Location:8 → 209
      Myotub-related; Myotubularin-like phosphatase domain

    3. XM_006716414.4 → XP_006716477.2  myotubularin-related protein 7 isoform X3

      See identical proteins and their annotated locations for XP_006716477.2

      Conserved Domains (1) summary
      pfam06602
      Location:8 → 209
      Myotub-related; Myotubularin-like phosphatase domain

    4. XM_047422408.1 → XP_047278364.1  myotubularin-related protein 7 isoform X2

      Related
      ENSP00000429733.1, ENST00000521857.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      17564397..17680622 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361481.1 → XP_054217456.1  myotubularin-related protein 7 isoform X1

      UniProtKB/TrEMBL
      B7Z9Q7

    2. XM_054361483.1 → XP_054217458.1  myotubularin-related protein 7 isoform X3

    3. XM_054361484.1 → XP_054217459.1  myotubularin-related protein 7 isoform X3

    4. XM_054361482.1 → XP_054217457.1  myotubularin-related protein 7 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y216.3 GenPept UniProtKB/Swiss-Prot:Q9Y216

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