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FLASH GENE
Symbol PTPMT1 contributors: mct - updated : 23-04-2012
HGNC name protein tyrosine phosphatase, mitochondrial 1
HGNC id 26965
Location 11p11.2      Physical location : 47.586.981 - 47.595.012
Synonym name
  • NB4 apoptosis/differentiation related protein
  • PTEN-like phosphatase; phosphoinositide lipid phosphatase
  • Synonym symbol(s) PNAS-129, DUSP23, FLJ46081, MOSP, PLIP
    EC.number 3.1.3.16
    DNA
    TYPE functioning gene
    STRUCTURE 8.03 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2651 - 251 - 2004 15247229
    2 - 2568 - 151 - 2004 15247229
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a canonical protein tyrosine phosphatase domain fold, resembling many dual-specificity phosphatases such as phosphatase and tensin homolog and vaccinia H1-related phosphatase
  • a PTEN-like active site
  • HOMOLOGY
    Homologene
    FAMILY protein tyrosine phosphatase superfamily
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text
  • targeted to the mitochondrion by an N-terminal signal sequence and is found anchored to the matrix face of the inner membrane
  • basic FUNCTION
  • exhibits a unique preference for phosphatidylinositol 5-phosphate (PI(5)P) as a substrate in vitro
  • indispensable role for PTPMT1 during development
  • crucial role in embryogenesis, revealing a mitochondrial metabolic stress-activated checkpoint in the control of ES cell differentiation
  • dephosphorylates phosphatidylglycerol phosphate (PGP), an essential intermediate of cardiolipin biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • physiological target of PTPMT1 is phosphatidylglycerol phosphate (PGP)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    eads to dramatic diminution of cardiolipin, which can be partially reversed by the expression of catalytic active PTPMT1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabetetype 2 
    potential drug target for the treatment of type II diabetes
    ANIMAL & CELL MODELS