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

Gene ID: 5428, updated on 19-Dec-2014
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]
See POLG in Epigenomics, MapViewer
Location:
15q25
Exon count:
23
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 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

Homology

Clone Names

  • FLJ27114

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
exonuclease activity IEA
Inferred from Electronic Annotation
more info
 
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 
mitochondrial DNA replication IEA
Inferred from Electronic Annotation
more info
 
nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular vesicular 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 
Preferred Names
DNA polymerase subunit gamma-1
Names
DNA polymerase subunit gamma-1
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 

    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 proteins identical to 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 proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

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

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

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

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    65971419..65989730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)