Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Polg. (This text reflects annotations as of Thursday, July 24, 2014.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Polg
  • participates in the following biological processes:
    • nucleic acid phosphodiester bond hydrolysis ^[7]
  • performs the following molecular functions:
    • exonuclease activity ^[7]
  • is located in the following cellular components:
    • mitochondrial inner membrane ^[2]
    • mitochondrion ^{[5, 6]}
• The gene product of Polg has been shown to bind to the gene products of Dnaja3, Sod2, Trp53. ^{[1, 4]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Polg
  • participates in the following biological processes:
    • aging ^[7]
    • mitochondrial DNA replication ^[3]
  • is located in the following cellular components:
    • mitochondrion ^[3]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Polg:
  • participates in the following biological processes:
    • DNA biosynthetic process
    • DNA-dependent DNA replication
  • performs the following molecular functions:
    • chromatin binding
    • DNA-directed DNA polymerase activity
    • protease binding
  • is located in the following cellular components:
    • extracellular vesicular exosome
    • gamma DNA polymerase complex
    • mitochondrial nucleoid
    • mitochondrion

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Summary text based on GO annotations supported by structural data

• Polg encodes a protein or proteins that contain the following InterPro domains: DNA-directed DNA polymerase, family A, conserved site, DNA-directed DNA polymerase, family A, mitochondria, subgroup, DNA-directed DNA polymerase, family A, palm domain, DNA-directed DNA-polymerase, family A, mitochondria, Ribonuclease H-like domain, indicating that the gene product:
  • participates in the following biological processes:
    • DNA replication
  • performs the following molecular functions:
    • DNA binding
    • nucleic acid binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Polg indicates that it:
  • participates in the following biological processes:
    • DNA replication
  • performs the following molecular functions:
    • DNA binding
    • nucleotidyltransferase activity
    • transferase activity

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References

1. Bakthavatchalu V et al. (2012) Manganese superoxide dismutase is a mitochondrial fidelity protein that protects Polgamma against UV-induced inactivation. Oncogene, 31:2129-39. (PubMed:21909133)
2. Da Cruz S et al. (2003) Proteomic analysis of the mouse liver mitochondrial inner membrane. J Biol Chem, 278:41566-71. (PubMed:12865426)
3. Hance N et al. (2005) Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis. Hum Mol Genet, 14:1775-83. (PubMed:15888483)
4. Hayashi M et al. (2006) A crucial role of mitochondrial Hsp40 in preventing dilated cardiomyopathy. Nat Med, 12:128-32. (PubMed:16327803)
5. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)
6. Pagliarini DJ et al. (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell, 134:112-23. (PubMed:18614015)
7. Trifunovic A et al. (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature, 429:417-23. (PubMed:15164064)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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