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    Polg polymerase (DNA directed), gamma [ Mus musculus (house mouse) ]

    Gene ID: 18975, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Polgprovided by MGI
    Official Full Name
    polymerase (DNA directed), gammaprovided by MGI
    Primary source
    MGI:MGI:1196389
    See related
    Ensembl:ENSMUSG00000039176 AllianceGenome:MGI:1196389
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PolgA
    Summary
    Enables exonuclease activity. Involved in mitochondrial DNA replication. Acts upstream of or within determination of adult lifespan. Located in mitochondrial inner membrane. Is expressed in several structures, including early conceptus and secondary oocyte. Used to study bipolar disorder; mood disorder; and myelodysplastic syndrome. Human ortholog(s) of this gene implicated in several diseases, including mitochondrial DNA depletion syndrome (multiple); mitochondrial myopathy (multiple); neurodegenerative disease (multiple); ovarian disease (multiple); and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Orthologous to human POLG (DNA polymerase gamma, catalytic subunit). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 26.1), placenta adult (RPKM 20.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Polg in Genome Data Viewer
    Location:
    7 D2; 7 45.04 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (79095979..79117659, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (79446231..79467911, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_19276 Neighboring gene predicted gene, 31653 Neighboring gene Fanconi anemia, complementation group I Neighboring gene protein transport protein Sec61 subunit gamma pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E2240 Neighboring gene nuclear encoded tRNA arginine 5 (anticodon TCG) Neighboring gene STARR-seq mESC enhancer starr_19283 Neighboring gene Mir9-3 host gene Neighboring gene microRNA 9b-3 Neighboring gene microRNA 9-3 Neighboring gene STARR-seq mESC enhancer starr_19284 Neighboring gene predicted gene, 31740

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice. Safdar A, et al. Proc Natl Acad Sci U S A, 2011 Mar 8. PMID 21368114, Free PMC Article
    2. Mitochondrial DNA polymerase editing mutation, PolgD257A, disturbs stem-progenitor cell cycling in the small intestine and restricts excess fat absorption. Fox RG, et al. Am J Physiol Gastrointest Liver Physiol, 2012 May 1. PMID 22345551, Free PMC Article
    3. Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice. Ahlqvist KJ, et al. Cell Metab, 2012 Jan 4. PMID 22225879
    4. Replication pauses of the wild-type and mutant mitochondrial DNA polymerase gamma: a simulation study. Song Z, et al. PLoS Comput Biol, 2011 Nov. PMID 22125488, Free PMC Article
    5. MitoRCA-seq reveals unbalanced cytocine to thymine transition in Polg mutant mice. Ni T, et al. Sci Rep, 2015 Jul 27. PMID 26212336, Free PMC Article

    See all (133) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Absence of both MGME1 and POLG EXO abolishes mtDNA whereas absence of either creates unique mtDNA duplications.
      Title: Absence of both MGME1 and POLG EXO abolishes mtDNA whereas absence of either creates unique mtDNA duplications.
    2. Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
      Title: Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
    3. The Absence of Parkin Does Not Promote Dopamine or Mitochondrial Dysfunction in PolgA[D257A/D257A] Mitochondrial Mutator Mice.
      Title: The Absence of Parkin Does Not Promote Dopamine or Mitochondrial Dysfunction in PolgA(D257A/D257A) Mitochondrial Mutator Mice.
    4. DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
      Title: DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
    5. Mitochondrial dysfunction impairs osteogenesis, increases osteoclast activity, and accelerates age related bone loss.
      Title: Mitochondrial dysfunction impairs osteogenesis, increases osteoclast activity, and accelerates age related bone loss.
    6. 17-month-old Polg(mut/mut) mice displayed a profound loss of spiral ganglion neurons in the cochlea.
      Title: Increased burden of mitochondrial DNA deletions and point mutations in early-onset age-related hearing loss in mitochondrial mutator mice.
    7. CR benefits oocyte quality and fertility outcomes in naturally aged female mice, it does not sufficiently improve oocyte quality in PolgD257A/D257A
      Title: Calorie restriction does not influence oocyte quality in oocytes from POLG mitochondrial mutator mice.
    8. mtDNA maintenance is regulated by a non-coding genomic complex driving POLG expression in specific neuronal populations.
      Title: A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regions.
    9. Study found that the exonuclease function of the mtDNA polymerase gamma (POLG) is required for this rapid degradation of mtDNA fragments. POLG is recruited to linearized DNA fragments in an origin of replication-independent manner.
      Title: The mitochondrial DNA polymerase gamma degrades linear DNA fragments precluding the formation of deletions.
    10. Cardiac mitochondrial polymerase gamma dysfunction alters nuclear DNA methylation.
      Title: Mitochondrial polymerase gamma dysfunction and aging cause cardiac nuclear DNA methylation changes.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3'-5' exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3'-5' exonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 5'-deoxyribose-5-phosphate lyase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 5'-deoxyribose-5-phosphate lyase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-directed DNA polymerase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables DNA-directed DNA polymerase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protease binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA 3'-5' DNA exonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-stranded DNA 3'-5' DNA exonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA replication proofreading ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA replication proofreading ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in DNA-templated DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in base-excision repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in base-excision repair ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within determination of adult lifespan IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mitochondrial DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of gamma DNA polymerase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of gamma DNA polymerase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial inner membrane HDA PubMed 
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial nucleoid ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial nucleoid ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in terminal bouton ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DNA polymerase subunit gamma-1
    Names
    3'-5' exodeoxyribonuclease
    5'-deoxyribose-phosphate lyase
    DNA polymerase gamma subunit 1 (Mitochondrial DNA polymerase catalytic subunit) (PolG-alpha)
    Pol gamma
    mitochondrial DNA polymerase catalytic subunit
    mitochondrial DNA polymerase gamma
    mitochondrial polymerase gamma
    polG-alpha
    polymerase, gamma
    NP_001347024.1
    NP_001347025.1
    NP_059490.2
    XP_006540771.1
    XP_006540774.1
    XP_030098081.1
    XP_036008683.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001360095.1 → NP_001347024.1  DNA polymerase subunit gamma-1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC110909, BC080291
      Conserved Domains (1) summary
      cd08641
      Location:187 → 605
      DNA_pol_gammaA; Pol gammaA is a family A polymerase that is responsible for DNA replication and repair in mitochondria

    2. NM_001360096.1 → NP_001347025.1  DNA polymerase subunit gamma-1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC110909
      Conserved Domains (2) summary
      cd08641
      Location:492 → 910
      DNA_pol_gammaA; Pol gammaA is a family A polymerase that is responsible for DNA replication and repair in mitochondria
      cl02626
      Location:142 → 184
      DNA_pol_A; Family A polymerase primarily fills DNA gaps that arise during DNA repair, recombination and replication

    3. NM_017462.3 → NP_059490.2  DNA polymerase subunit gamma-1 isoform 1

      See identical proteins and their annotated locations for NP_059490.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC110909, AK133584
      Consensus CDS
      CCDS21382.1
      UniProtKB/TrEMBL
      Q3UZX3, Q75WC0
      Related
      ENSMUSP00000073551.8, ENSMUST00000073889.14
      Conserved Domains (3) summary
      cd08641
      Location:763 → 1181
      DNA_pol_gammaA; Pol gammaA is a family A polymerase that is responsible for DNA replication and repair in mitochondria
      cl02626
      Location:413 → 455
      DNA_pol_A; Family A polymerase primarily fills DNA gaps that arise during DNA repair, recombination and replication
      cl10012
      Location:248 → 280
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    RNA

    1. NR_153404.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' end and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC110909

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      79095979..79117659 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540708.5 → XP_006540771.1  DNA polymerase subunit gamma-1 isoform X1

      UniProtKB/TrEMBL
      Q3UZX3
      Conserved Domains (3) summary
      cd08641
      Location:706 → 1124
      DNA_pol_gammaA; Pol gammaA is a family A polymerase that is responsible for DNA replication and repair in mitochondria
      pfam18136
      Location:104 → 396
      DNApol_Exo; DNA mitochondrial polymerase exonuclease domain
      cl02626
      Location:413 → 474
      DNA_pol_A; Family A polymerase primarily fills DNA gaps that arise during DNA repair, recombination and replication

    2. XM_030242221.2 → XP_030098081.1  DNA polymerase subunit gamma-1 isoform X2

      Conserved Domains (1) summary
      cd08641
      Location:264 → 682
      DNA_pol_gammaA; Pol gammaA is a family A polymerase that is responsible for DNA replication and repair in mitochondria

    3. XM_036152790.1 → XP_036008683.1  DNA polymerase subunit gamma-1 isoform X2

      Conserved Domains (1) summary
      cd08641
      Location:264 → 682
      DNA_pol_gammaA; Pol gammaA is a family A polymerase that is responsible for DNA replication and repair in mitochondria

    4. XM_006540711.3 → XP_006540774.1  DNA polymerase subunit gamma-1 isoform X3

      Conserved Domains (2) summary
      pfam18136
      Location:104 → 396
      DNApol_Exo; DNA mitochondrial polymerase exonuclease domain
      cl02626
      Location:413 → 455
      DNA_pol_A; Family A polymerase primarily fills DNA gaps that arise during DNA repair, recombination and replication

    RNA

    1. XR_004934043.1 RNA Sequence

    2. XR_003946418.2 RNA Sequence

      Related
      ENSMUST00000127082.8
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54099.3 GenPept UniProtKB/Swiss-Prot:P54099

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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