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    MTMR9 myotubularin related protein 9 [ Homo sapiens (human) ]

    Gene ID: 66036, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MTMR9provided by HGNC
    Official Full Name
    myotubularin related protein 9provided by HGNC
    Primary source
    HGNC:HGNC:14596
    See related
    Ensembl:ENSG00000104643 MIM:606260; AllianceGenome:HGNC:14596
    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
    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]
    Expression
    Ubiquitous expression in brain (RPKM 9.7), testis (RPKM 6.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTMR9 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11284816..11339526)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (8398321..8454196, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11142325..11185655)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene XK related 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18925 Neighboring gene ribosomal protein L17 pseudogene 29 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27002 Neighboring gene Sharpr-MPRA regulatory region 9232 Neighboring gene long intergenic non-protein coding RNA 529 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27003 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11141809-11142310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27004 Neighboring gene ribosomal protein L19 pseudogene 13 Neighboring gene uncharacterized LOC101929290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11204715-11205338 Neighboring gene solute carrier family 35 member G5 Neighboring gene FAM167A antisense RNA 1 Neighboring gene TDH antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 293, pseudogene Neighboring gene L-threonine dehydrogenase (pseudogene)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The MTMR9 rs2293855 polymorphism is associated with glucose tolerance, insulin secretion, insulin sensitivity and increased risk of prediabetes. Tang L, et al. Gene, 2014 Aug 10. PMID 24937802
    2. Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23. Appel S, et al. Genomics, 2001 Jul. PMID 11472061
    3. Association of single-nucleotide polymorphisms in MTMR9 gene with obesity. Yanagiya T, et al. Hum Mol Genet, 2007 Dec 15. PMID 17855449
    4. Sequence-ready contig for the 1.4-cM ductal carcinoma in situ loss of heterozygosity region on chromosome 8p22-p23. Wang JC, et al. Genomics, 1999 Aug 15. PMID 10458905
    5. Human myotubularin-related protein 9 regulates ER-to-Golgi trafficking and modulates WNT3A secretion. Doubravská L, et al. Exp Cell Res, 2020 Jan 1. PMID 31704058

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Variants of the MTMR9 Gene Are Associated with Nonspecific Intellectual Disability: A Family-Based Association Study.
      Title: Genetic Variants of the MTMR9 Gene Are Associated with Nonspecific Intellectual Disability: A Family-Based Association Study.
    2. MTMR9 localizes to the intermediate compartment and to the Golgi apparatus. MTMR9 modulates WNT3A signalling by interfering with WNT3A secretion.
      Title: Human myotubularin-related protein 9 regulates ER-to-Golgi trafficking and modulates WNT3A secretion.
    3. Polymorphism of rs2293855 in MTMR9 is associated with measures of glucose tolerance, indices of insulin secretion and indices of insulin sensitivity.
      Title: The MTMR9 rs2293855 polymorphism is associated with glucose tolerance, insulin secretion, insulin sensitivity and increased risk of prediabetes.
    4. MTMR6, which dephosphorylates PI(3)P to PI, and its binding partner MTMR9, are required for macropinocytosis.
      Title: Sequential breakdown of 3-phosphorylated phosphoinositides is essential for the completion of macropinocytosis.
    5. 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.
    6. MTMR9 greatly enhances the functions of MTMR6
      Title: MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis.
    7. Association of single-nucleotide polymorphisms in MTMR9 gene with obesity.
      Title: Association of single-nucleotide polymorphisms in MTMR9 gene with obesity.
    8. 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

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

    • MGC126672, DKFZp434K171

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme regulator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of autophagy IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    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 endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myotubularin-related protein 9
    Names
    inactive phosphatidylinositol 3-phosphatase 9
    myotubularin related protein 8

    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_015458.4 → NP_056273.2  myotubularin-related protein 9

      See identical proteins and their annotated locations for NP_056273.2

      Status: REVIEWED

      Source sequence(s)
      AJ297823, BU631532
      Consensus CDS
      CCDS5979.1
      UniProtKB/Swiss-Prot
      B7Z291, Q52LU3, Q8WW11, Q96QG6, Q96QG7, Q9NX50
      UniProtKB/TrEMBL
      Q53EW4
      Related
      ENSP00000221086.3, ENST00000221086.8
      Conserved Domains (2) summary
      cd13211
      Location:1 → 97
      PH-GRAM_MTMR9; Myotubularian (MTM) related 9 protein (MTMR9) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:127 → 446
      Myotub-related; Myotubularin-like phosphatase domain

    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
      11284816..11339526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422125.1 → XP_047278081.1  myotubularin-related protein 9 isoform X1

      UniProtKB/TrEMBL
      Q53EW4

    2. XM_017013753.3 → XP_016869242.1  myotubularin-related protein 9 isoform X3

    3. XM_011543831.3 → XP_011542133.1  myotubularin-related protein 9 isoform X2

      Conserved Domains (1) summary
      pfam06602
      Location:1 → 248
      Myotub-related; Myotubularin-like phosphatase domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      2008994..2062035 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332260.1 → XP_054188235.1  myotubularin-related protein 9 isoform X1

      UniProtKB/TrEMBL
      Q53EW4

    2. XM_054332261.1 → XP_054188236.1  myotubularin-related protein 9 isoform X2

    3. XM_054332262.1 → XP_054188237.1  myotubularin-related protein 9 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      8398321..8454196 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361057.1 → XP_054217032.1  myotubularin-related protein 9 isoform X1

      UniProtKB/TrEMBL
      Q53EW4

    2. XM_054361058.1 → XP_054217033.1  myotubularin-related protein 9 isoform X2

    3. XM_054361059.1 → XP_054217034.1  myotubularin-related protein 9 isoform X3

    RNA

    1. XR_008487873.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QG7.1 GenPept UniProtKB/Swiss-Prot:Q96QG7

    Gene LinkOut

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