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

Summary

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. Acts upstream of or within aging and mitochondrial DNA replication. 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, Apr 2022]
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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Cardiac mitochondrial polymerase gamma dysfunction alters nuclear DNA methylation.
Title: Mitochondrial polymerase gamma dysfunction and aging cause cardiac nuclear DNA methylation changes.
Cortical levels of fatty acids, which make up the tails of phospholipids, were largely unaffected by the presence of the PolgD257A mutation or exercise
Title: Metabolomic analysis of exercise effects in the POLG mitochondrial DNA mutator mouse brain.
Taken together, our findings may provide clues to further investigate the molecular mechanism underlying premature aging phenotype in Polg mutant mice.
Title: MitoRCA-seq reveals unbalanced cytocine to thymine transition in Polg mutant mice.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

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

Gene trapped (1) 1 citation
Targeted (5) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_7859-7860:996688105:3 (e-PCR)
- UniSTS:269839

RH125851 (e-PCR)
- UniSTS:162591

Polg (e-PCR), detects polymorphism
- UniSTS:496725

NoName (e-PCR)
- UniSTS:235697

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 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 chromatin binding	ISO Inferred from Sequence Orthology more info
enables exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleotidyltransferase activity	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 transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA replication	IEA Inferred from Electronic Annotation more info
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
involved_in DNA replication proofreading	ISO Inferred from Sequence Orthology 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
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
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	HDA more info	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 mitochondrion	HDA more info	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

EC 2.7.7.7

NP_001347025.1

EC 2.7.7.7

NP_059490.2

EC 2.7.7.7

XP_006540771.1

EC 2.7.7.7

XP_006540774.1

EC 2.7.7.7

XP_030098081.1

EC 2.7.7.7

XP_036008683.1

EC 2.7.7.7

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)

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
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
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

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

79095979..79117659 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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