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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

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