Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    MTM1 myotubularin 1 [ Homo sapiens (human) ]

    Gene ID: 4534, updated on 5-Nov-2017
    Official Symbol
    MTM1provided by HGNC
    Official Full Name
    myotubularin 1provided by HGNC
    Primary source
    HGNC:HGNC:7448
    See related
    Ensembl:ENSG00000171100 MIM:300415; Vega:OTTHUMG00000024158
    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
    CNM; MTMX; XLMTM
    Summary
    This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    Xq28
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (150562658..150673143)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (149731104..149841616)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene X-ray repair cross complementing 6 pseudogene 2 Neighboring gene mastermind like domain containing 1 Neighboring gene myotubularin related protein 1 Neighboring gene CD99 molecule like 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Severe X-linked myotubular myopathy Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    endosome to lysosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intermediate filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion distribution IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    muscle cell cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of TOR signaling IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of autophagosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein kinase B signaling IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of skeletal muscle tissue growth IEA
    Inferred from Electronic Annotation
    more info
     
    protein dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of vacuole organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    I band IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    myotubularin
    Names
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    NP_000243.1
    XP_005274744.1
    XP_011529473.1
    XP_011529474.1
    XP_011529475.1
    XP_016885036.1
    XP_016885037.1
    XP_016885038.1
    XP_016885039.1
    XP_016885040.1

    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.

    Genomic

    1. NG_008199.1 RefSeqGene

      Range
      5001..109570
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_839

    mRNA and Protein(s)

    1. NM_000252.2NP_000243.1  myotubularin

      See identical proteins and their annotated locations for NP_000243.1

      Status: REVIEWED

      Source sequence(s)
      BC030779, BQ002481, DC418907, U46024
      Consensus CDS
      CCDS14694.1
      UniProtKB/Swiss-Prot
      Q13496
      UniProtKB/TrEMBL
      A0A024RC06
      Related
      ENSP00000359423.2, OTTHUMP00000025853, ENST00000370396.6, OTTHUMT00000060847
      Conserved Domains (2) summary
      cd13355
      Location:44143
      PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:150483
      Myotub-related; Myotubularin-like phosphatase domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      150562658..150673143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531172.1XP_011529474.1  myotubularin isoform X2

      See identical proteins and their annotated locations for XP_011529474.1

      Conserved Domains (2) summary
      pfam06602
      Location:165498
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:44158
      PH-like; Pleckstrin homology-like domain
    2. XM_005274687.2XP_005274744.1  myotubularin isoform X3

      See identical proteins and their annotated locations for XP_005274744.1

      UniProtKB/Swiss-Prot
      Q13496
      UniProtKB/TrEMBL
      A0A024RC06
      Conserved Domains (2) summary
      cd13355
      Location:44143
      PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:150483
      Myotub-related; Myotubularin-like phosphatase domain
    3. XM_011531171.1XP_011529473.1  myotubularin isoform X2

      See identical proteins and their annotated locations for XP_011529473.1

      Conserved Domains (2) summary
      pfam06602
      Location:165498
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:44158
      PH-like; Pleckstrin homology-like domain
    4. XM_017029550.1XP_016885039.1  myotubularin isoform X5

      UniProtKB/Swiss-Prot
      Q13496
      Conserved Domains (2) summary
      pfam06602
      Location:113446
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:44106
      PH-like; Pleckstrin homology-like domain
    5. XM_017029549.1XP_016885038.1  myotubularin isoform X4

      Conserved Domains (2) summary
      cd13355
      Location:44143
      PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:150483
      Myotub-related; Myotubularin-like phosphatase domain
    6. XM_011531173.2XP_011529475.1  myotubularin isoform X3

      See identical proteins and their annotated locations for XP_011529475.1

      UniProtKB/Swiss-Prot
      Q13496
      UniProtKB/TrEMBL
      A0A024RC06
      Conserved Domains (2) summary
      cd13355
      Location:44143
      PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam06602
      Location:150483
      Myotub-related; Myotubularin-like phosphatase domain
    7. XM_017029548.1XP_016885037.1  myotubularin isoform X2

      Conserved Domains (2) summary
      pfam06602
      Location:165498
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:44158
      PH-like; Pleckstrin homology-like domain
    8. XM_017029547.1XP_016885036.1  myotubularin isoform X1

    9. XM_017029551.1XP_016885040.1  myotubularin isoform X6

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      149611646..149715992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center