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Description for Protein POLG

polymerase (DNA directed), gamma
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(undefined: 1)
Summary:
Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.7.7
    KEGG - Orthology:
    K02332
    KEGG - Pathway(s):
    hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    DNA polymerase, gamma-1; POLG1; POLG, Catalytic subunit POLG-alpha; POLGA; DNA polymerase gamma subunit 1; Mitochondrial DNA polymerase catalytic subunit PolG-alpha; MDP1
    Approved Symbol:
    POLG
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    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:

  • Alpers syndrome(Pd);
  • Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy(Pd);
  • Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1(Pd);
  • Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive(Pd);
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis(Pd);
  • Spinocerebellar ataxia with epilepsy(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01438 Entrez Gene ID: 5428 OMIM ID: 174763 Swissprot Accession: P54098;