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    POLG DNA polymerase gamma, catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 5428, updated on 12-Nov-2024

    Summary

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    Official Symbol
    POLGprovided by HGNC
    Official Full Name
    DNA polymerase gamma, catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:9179
    See related
    Ensembl:ENSG00000140521 MIM:174763; AllianceGenome:HGNC:9179
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B
    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, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 14.2), spleen (RPKM 13.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POLG in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89316320..89334824, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87071147..87089647, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89859551..89878055, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene retinaldehyde binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10045 Neighboring gene FA complementation group I Neighboring gene uncharacterized LOC124903548 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89848389-89848616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10046 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89877323-89877824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10049 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89880071-89880240 Neighboring gene microRNA 6766 Neighboring gene tRNA-Arg (anticodon TCG) 1-1 Neighboring gene POLG alternative reading frame Neighboring gene POLG divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:89891730-89892929 Neighboring gene uncharacterized LOC124903549

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation.
      Title: Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation.
    2. An interaction network in the polymerase active site is a prerequisite for Watson-Crick base pairing in Pol gamma.
      Title: An interaction network in the polymerase active site is a prerequisite for Watson-Crick base pairing in Pol Îł.
    3. Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.
      Title: Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.
    4. Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
      Title: Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
    5. POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype.
      Title: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype.
    6. DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?
      Title: DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?
    7. POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia.
      Title: POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia.
    8. Mechanism of strand displacement DNA synthesis by the coordinated activities of human mitochondrial DNA polymerase and SSB.
      Title: Mechanism of strand displacement DNA synthesis by the coordinated activities of human mitochondrial DNA polymerase and SSB.
    9. [Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].
      Title: [Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].
    10. POLG mutation setting off 'FIRES'.
      Title: POLG mutation setting off 'FIRES'.
    Submit: New GeneRIF Correction See all GeneRIFs (268)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial DNA depletion syndrome 1
    MedGen: C4551995 OMIM: 603041 GeneReviews: Mitochondrial Neurogastrointestinal Encephalopathy Disease
    		not available
    Mitochondrial DNA depletion syndrome 4b
    MedGen: C3150914 OMIM: 613662 GeneReviews: POLG-Related Disorders
    		not available
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
    MedGen: C1834846 OMIM: 157640 GeneReviews: Mitochondrial DNA Deletion Syndromes, POLG-Related Disorders
    		not available
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
    MedGen: C4225153 OMIM: 258450 GeneReviews: POLG-Related Disorders
    		not available
    Progressive sclerosing poliodystrophy
    MedGen: C0205710 OMIM: 203700 GeneReviews: POLG-Related Disorders, Mitochondrial DNA Maintenance Defects Overview
    		not available
    Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
    MedGen: C1843851 OMIM: 607459 GeneReviews: POLG-Related Disorders
    		not available

    EBI GWAS Catalog

    Description
    Common variants in the GDF5-UQCC region are associated with variation in human height.
    EBI GWAS Catalog
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • FLJ27114

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3'-5' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3'-5' exonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables 5'-deoxyribose-5-phosphate lyase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-directed DNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-directed DNA polymerase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA 3'-5' DNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables single-stranded DNA 3'-5' DNA exonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA replication proofreading IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA replication proofreading IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in DNA-templated DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in base-excision repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within base-excision repair, gap-filling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of gamma DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of gamma DNA polymerase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in mitochondrial chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA polymerase subunit gamma-1
    Names
    3'-5' exodeoxyribonuclease
    5'-deoxyribose-phosphate lyase
    PolG-alpha
    mitochondrial DNA polymerase catalytic subunit
    mitochondrial polymerase gamma catalytic subunit
    polymerase (DNA directed), gamma
    polymerase (DNA) gamma, catalytic subunit
    NP_001119603.1
    NP_002684.1

    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.

    Genomic

    1. NG_008218.2 RefSeqGene

      Range
      5001..23491
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_765

    mRNA and Protein(s)

    1. NM_001126131.2 → NP_001119603.1  DNA polymerase subunit gamma-1

      See identical proteins and their annotated locations for NP_001119603.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.
      Source sequence(s)
      AC124068, BC050559, X98093
      Consensus CDS
      CCDS10350.1
      UniProtKB/Swiss-Prot
      P54098, Q8NFM2, Q92515
      UniProtKB/TrEMBL
      A8K5G6, E5KNU5, E5KNV8, E5KNW2, E5KNX5
      Related
      ENSP00000399851.2, ENST00000442287.6
      Conserved Domains (3) summary
      cd08641
      Location:785 → 1203
      DNA_pol_gammaA; Pol gammaA is a family A polymerase that is responsible for DNA replication and repair in mitochondria
      cl02626
      Location:431 → 473
      DNA_pol_A; Family A polymerase primarily fills DNA gaps that arise during DNA repair, recombination and replication
      cl10012
      Location:265 → 297
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    2. NM_002693.3 → NP_002684.1  DNA polymerase subunit gamma-1

      See identical proteins and their annotated locations for NP_002684.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.
      Source sequence(s)
      AC124068, X98093
      Consensus CDS
      CCDS10350.1
      UniProtKB/Swiss-Prot
      P54098, Q8NFM2, Q92515
      UniProtKB/TrEMBL
      A8K5G6, E5KNU5, E5KNV8, E5KNW2, E5KNX5
      Related
      ENSP00000268124.5, ENST00000268124.11
      Conserved Domains (3) summary
      cd08641
      Location:785 → 1203
      DNA_pol_gammaA; Pol gammaA is a family A polymerase that is responsible for DNA replication and repair in mitochondria
      cl02626
      Location:431 → 473
      DNA_pol_A; Family A polymerase primarily fills DNA gaps that arise during DNA repair, recombination and replication
      cl10012
      Location:265 → 297
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      89316320..89334824 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      87071147..87089647 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54098.1 GenPept UniProtKB/Swiss-Prot:P54098

    Gene LinkOut

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

    Chemical Information
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