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

    Gene ID: 5428, updated on 30-Jun-2015
    Official Symbol
    POLGprovided by HGNC
    Official Full Name
    polymerase (DNA directed), gammaprovided by HGNC
    Primary source
    HGNC:HGNC:9179
    See related
    Ensembl:ENSG00000140521; HPRD:01438; MIM:174763; Vega:OTTHUMG00000149646
    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]
    Orthologs
    See POLG in Epigenomics, MapViewer
    Location:
    15q25
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (89316305..89334795, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89859536..89878026, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 2 Neighboring gene high mobility group box 1 pseudogene 8 Neighboring gene retinaldehyde binding protein 1 Neighboring gene Fanconi anemia, complementation group I Neighboring gene uncharacterized LOC105370962 Neighboring gene transfer RNA-Arg (TCG) 1-1 Neighboring gene microRNA 6766 Neighboring gene microRNA 9-3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Clone Names

    • FLJ27114

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3'-5' exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-directed DNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    DNA biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA-dependent DNA replication TAS
    Traceable Author Statement
    more info
    PubMed 
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    base-excision repair, gap-filling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleic acid phosphodiester bond hydrolysis IEA
    Inferred from Electronic Annotation
    more info
     
    response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    response to hyperoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to light stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gamma DNA polymerase complex IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    terminal bouton IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    DNA polymerase subunit gamma-1
    Names
    PolG-alpha
    mitochondrial DNA polymerase catalytic subunit
    NP_001119603.1
    NP_002684.1

    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_008218.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001126131.1NP_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)
      AW015913, BC050559, X98093
      Consensus CDS
      CCDS10350.1
      UniProtKB/TrEMBL
      E5KNU5
      UniProtKB/Swiss-Prot
      P54098
      Related
      ENSP00000399851, OTTHUMP00000236192, ENST00000442287, OTTHUMT00000395114
      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_002693.2NP_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)
      AW015913, X98093
      Consensus CDS
      CCDS10350.1
      UniProtKB/TrEMBL
      E5KNU5
      UniProtKB/Swiss-Prot
      P54098
      Related
      ENSP00000268124, OTTHUMP00000194455, ENST00000268124, OTTHUMT00000312854
      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: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

      Range
      89316305..89334795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      89700576..89719066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)