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

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See POLG in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89316320..89334824, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87071147..87089647, complement)
    105.20220307 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 POLG alternative reading frame 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 divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:89891730-89892929 Neighboring gene uncharacterized LOC124903549

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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
     
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    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

    Preferred Names
    DNA polymerase subunit gamma-1
    Names
    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)

    NEW Try the new Transcript table

    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_001126131.2NP_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:7851203
      DNA_pol_gammaA; Pol gammaA is a family A polymerase that is responsible for DNA replication and repair in mitochondria
      cl02626
      Location:431473
      DNA_pol_A; Family A polymerase primarily fills DNA gaps that arise during DNA repair, recombination and replication
      cl10012
      Location:265297
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    2. NM_002693.3NP_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:7851203
      DNA_pol_gammaA; Pol gammaA is a family A polymerase that is responsible for DNA replication and repair in mitochondria
      cl02626
      Location:431473
      DNA_pol_A; Family A polymerase primarily fills DNA gaps that arise during DNA repair, recombination and replication
      cl10012
      Location:265297
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)