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FLASH GENE
Symbol MTMR6 contributors: mct/npt - updated : 26-08-2014
HGNC name myotubularin related protein 6
HGNC id 7453
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart     Homo sapiens
Digestiveliver     Homo sapiens
Lymphoid/Immunespleen     Homo sapiens
Nervousbrain     Homo sapiens
Reproductivemale systemtestis  predominantly Homo sapiens
Respiratorylung     Homo sapiens
Urinarykidney     Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatum    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 3-phosphatase activity dephosphorylating phosphatidylinositol-3-phoshate and phosphatidylinositol-3,5-bisphosphate
  • canonical dual specificity protein tyrosine phosphatase active site CX5R motif (Zou 2009)
  • region similar to the active site of tyrosine phosphatases
  • a GRAM domain conserved between mammalian MTM phosphatases, that is a protein-protein-interacting module that regulates the cellular localization of MTMR6
  • a double-helical motif similar to the SET interaction domain
  • HOMOLOGY
    interspecies homolog to C.elegans f53a2.8
    intraspecies homolog to myotubularin protein 6
    Homologene
    FAMILY
  • protein-tyrosine phosphatase family
  • non-receptor class myotubularin subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    intracellular,nuclear envelope
    text
  • as MTMR9, accumulate in the perinuclear region, although MTMR6 shows less punctate distribution in the cytosolic compartment when compared with MTMR9 (Zou 2009)
  • present in the cytoplasm and was condensed in the perinuclear region in a microtubule-dependent manner
  • basic FUNCTION
  • protein/tyrosine/phosphatase activity
  • plays a critical role in setting a minimum threshold for a stimulus to activate a T cell (Srivastava 2006)
  • catalytically active member of the myotubularin (MTM) family
  • condenses in the pericentrosomal region in a microtubule-dependent manner
  • MTMR6 and RAB1B are involved in tube formation
  • CELLULAR PROCESS protein, post translation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms a heteromer with an enzymatically inactive member myotubularin-related protein 9 (MTMR9 greatly enhances the functions of MTMR6) (Zou 2009)
  • MTMR6/MTMR9 complex serves to inhibit stress-induced apoptosis and the MTMR8/MTMR9 complex inhibits autophagy
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • negatively regulate CD4 T cells (Srivastava 2006)negative regulator of KCNN4 (Srivastava 2005)
  • MTMR6-MTMR9 interaction is critical for lipid binding, catalytic activity, and protein stability of MTMR6 (Zou 2009)
  • cellular localization of MTMR6 is regulated by RAB1B in the early secretory and autophagic pathways
  • MTMR6 interacts with MTMR9 and that MTMR9 is the major binding protein of MTMR6
  • dephosphorylates the specific pool of PI(3)P in the case of autophagy
  • cell & other
    REGULATION
    Other regulated by RAB1B via the conserved GRAM domain
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in B cell chronic lymphoid leukemia cells with increased resistance to irradiation-induced apoptosis (Zou 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS