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FLASH GENE
Symbol POLG contributors: mct/npt - updated : 10-03-2009
HGNC name polymerase (DNA directed), gamma
HGNC id 9179
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   highly
Cardiovascularheart   highly
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
 spinal cord   highly
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Lymphoid    
Muscularstriatumskeletal  
Nervouscentral   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N terminal polyglutamine region
  • a polymerase motif B
  • a exonuclease motif
  • a spacer-region
  • mono polymer heteromer , dimer , trimer
    HOMOLOGY
    interspecies homolog to murine Polg
    homolog to Drosophila tam
    homolog to C.elegans Y57A10A.15
    Homologene
    FAMILY
  • DNA polymerase type A family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    basic FUNCTION
  • involved in the replication of mitochondrial DNA
  • playing an essential role for the organogenesis during embryonic development
  • CELLULAR PROCESS nucleotide, replication
    PHYSIOLOGICAL PROCESS
    text mitochondrial DNA replication
    PATHWAY
    metabolism
    signaling
    a component
  • subunit of DNA poymerase gamma
  • heterotrimer composed of a 140kDa catalytic subunit (POLG alpha)and a 55 kDa accessory subunit (POLG beta)
  • INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Mg2+
  • protein
  • interacting with LIG3 (interaction of DNA ligase III and DNA polymerase gamma is required for proper maintenance of the mitochondrial genome)
  • co-association of NEIL2 and PNKP with POLG on the mitochondrial genome
  • MGME1 interacts with the mitochondrial replicase POLG, suggesting that it is a constituent of the mitochondrial replisome, to which it provides an additional exonuclease activity
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PEO1 , AMS1 , PNDC , SANDO , MNGIE2 , OLEN
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
    in substantia nigra of Parkinson disease, with respiratory deficiency
    Susceptibility
  • to male infertility
  • to deletion of mitochondrial DNA
  • to testicular germ-cell can
  • Variant & Polymorphism SNP , repeat , other
  • common A467T associated to reduced polymerase activity and loss of accessory subunit interaction are responsible for the depletion and deletion of mitochondrial DNA
  • association of the polymorphism of the CAG repeat with testicular germ-cell cancer (Blomberg 2008)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    mice expressing proofreading-deficient version of the mitochondrial POLG accumulate mtDNA mutations and display features of accelerated aging