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FLASH GENE
Symbol POLG contributors: mct/npt - updated : 10-03-2009
HGNC name polymerase (DNA directed), gamma
HGNC id 9179
RNA
TRANSCRIPTS type messenger
text variants encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
23 - 4464 139.4 1239 - Walker (1997)
- - 4452 139.4 1239 - Walker (1997)
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