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    MTMR9 myotubularin related protein 9 [ Homo sapiens ]

    Gene ID: 66036, updated on 11-May-2012
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    Summary

    Official Symbol
    MTMR9provided by HGNC
    Official Full Name
    myotubularin related protein 9provided by HGNC
    Primary source
    HGNC:14596
    See related
    Ensembl:ENSG00000104643; HPRD:09377; MIM:606260; Vega:OTTHUMG00000090647
    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
    Also known as
    MTMR8; C8orf9; LIP-STYX; MGC126672; DKFZp434K171
    Summary
    This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    8p23-p22
    Sequence :
    Chromosome: 8; NC_000008.10 (11142000..11185655)
    See MTMR9 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene XK, Kell blood group complex subunit-related family, member 6 Neighboring gene ribosomal protein L17 pseudogene 29 Neighboring gene ribosomal protein L19 pseudogene 13 Neighboring gene uncharacterized LOC100505734 Neighboring gene solute carrier family 35, member G5 Neighboring gene L-threonine dehydrogenase Neighboring gene chromosome 8 open reading frame 12

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population. Hotta K, et al. J Hum Genet, 2011 Sep. PMID 21796137.
    2. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    3. Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. Ikram MK, et al. PLoS Genet, 2010 Oct 28. PMID 21060863.
    4. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. Morgan AR, et al. BMC Med Genet, 2010 Aug 16. PMID 20712903.
    5. Shifted Transversal Design smart-pooling for high coverage interactome mapping. Xin X, et al. Genome Res, 2009 Jul. PMID 19447967.

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Our data suggest that genetic variations in the FTO, SCG3 and MTMR9 genes independently influence the risk of metabolic syndrome.
      Title: Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population.
    2. MTMR9 greatly enhances the functions of MTMR6
      Title: MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis.
    3. Association of single-nucleotide polymorphisms in MTMR9 gene with obesity.
      Title: Association of single-nucleotide polymorphisms in MTMR9 gene with obesity.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q96QG7 Q9Y6C2 EMILIN1    HPRD  PubMed  
    Q96QG7 Q01844 EWSR1    HPRD  PubMed  
    Q96QG7 Q9Y217 MTMR6    HPRD  PubMed  
    Q96QG7 Q9Y216 MTMR7    HPRD  PubMed  
    Q96QG7 Myotubularin related protein 8 MTMR8    HPRD  PubMed  
    Q96QG7 Q96QG7 MTMR9    HPRD  PubMed  
    Q96QG7 Q9NZD8 SPG21    HPRD  PubMed  
    BioGRID:122455 BioGRID:116292 EMILIN1    BioGRID  PubMed Two-hybrid 
    BioGRID:122455 BioGRID:108431 EWSR1    BioGRID  PubMed Two-hybrid 
    BioGRID:122455 BioGRID:114558 MTMR6    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:122455 BioGRID:114559 MTMR7    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:122455 BioGRID:120753 MTMR8    BioGRID  PubMed Two-hybrid 
    BioGRID:122455 BioGRID:122455 MTMR9    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:122455 BioGRID:119474 SPG21    BioGRID  PubMed Two-hybrid 
    BioGRID:122455 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme regulator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    myotubularin-related protein 9
    Names
    myotubularin-related protein 9
    myotubularin related protein 8
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    NCBI Reference Sequences (RefSeq)

    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_015458.3 → NP_056273.2  myotubularin-related protein 9

      Status: REVIEWED

      Source sequence(s)
      AJ297823, BC034990, BU631532
      Consensus CDS
      CCDS5979.1
      UniProtKB/Swiss-Prot
      Q96QG7
      Related
      ENSP00000221086, OTTHUMP00000115806, ENST00000221086, OTTHUMT00000207307
      Conserved Domains (2) summary
      pfam06602
      Location:152 – 266
      Blast Score: 475
      Myotub-related; Myotubularin-related
      cl00053
      Location:327 – 381
      Blast Score: 247
      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 ...

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p5 Primary Assembly

      Range
      11142000..11185655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      10072186..10115823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF131216.2 (75448..119102) None
    genomic AJ297824.1 CAC51115.1
    genomic CH471157.1 EAW65607.1
      EAW65608.1
      EAW65609.1
    mRNA AF052099.1 None
    mRNA AJ297823.1 CAC51114.1
    mRNA AK000444.1 BAA91170.1
    mRNA AK022071.1 None
    mRNA AK223525.1 BAD97245.1
    mRNA AK294463.1 BAH11777.1
    mRNA AK303543.1 BAG64569.1
    mRNA AL080178.1 CAB45763.1
    mRNA BC017985.1 None
    mRNA BC022003.1 AAH22003.1
    mRNA BC034990.2 AAH34990.1
    mRNA BC093788.1 AAH93788.1
    mRNA BC101623.1 AAI01624.1
    mRNA BU631532.1 None
    mRNA BX538176.1 None
    other-genetic DQ893969.2 ABM84895.1
    other-genetic EU176196.1 ABW03647.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53EW4 GenPept UniProtKB/TrEMBL:Q53EW4
    Q96QG7.1 GenPept UniProtKB/Swiss-Prot:Q96QG7
    Q9Y4N6 GenPept UniProtKB/TrEMBL:Q9Y4N6
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    Additional Links

    Gene LinkOut

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

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