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Description for Protein MTM1

myotubularin 1
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 3/1)
(phosphoproteome: 1; platelet: 3; undefined: 1)
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] (PubMed Links)
Domains and Motifs:
  • Tyr_Phos: Protein tyrosine phosphatase, catalytic domain
  • GRAM: domain in glucosyltransferases, myotubularins and other putative membrane-associated proteins
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.1.3.48
    KEGG - Orthology:
    K01104
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    MTMX; XLMTM; CNM
    Approved Symbol:
    MTM1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 12
    Human (de-) phosphorylation sites: 12; Platelet phosphorylation sites: 1
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Myotubular myopathy, X-linked(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02331 Entrez Gene ID: 4534 OMIM ID: 300415 Swissprot Accession: Q13496; A6NDB1;