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

    Gene ID: 66036, updated on 3-Apr-2024

    Summary

    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
    NEW
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    Genomic context

    Location:
    8p23.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11284816..11339526)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (8398321..8454196, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 27004 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11141809-11142310 Neighboring gene ribosomal protein L19 pseudogene 13 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

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    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_015458.4NP_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:197
      PH-GRAM_MTMR9; Myotubularian (MTM) related 9 protein (MTMR9) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:127446
      Myotub-related; Myotubularin-like phosphatase domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047422125.1XP_047278081.1  myotubularin-related protein 9 isoform X1

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

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

      Conserved Domains (1) summary
      pfam06602
      Location:1248
      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_054332260.1XP_054188235.1  myotubularin-related protein 9 isoform X1

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

    3. XM_054332262.1XP_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_054361057.1XP_054217032.1  myotubularin-related protein 9 isoform X1

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

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

    RNA

    1. XR_008487873.1 RNA Sequence