GenAge entry for POLG (Homo sapiens)

Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism

Gene name (HAGRID: 72)

HGNC symbol
POLG 
Aliases
POLG1; POLGA 
Common name
polymerase (DNA directed), gamma 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism
Description

POLG is involved in mitochondrial DNA replication and repair [1060]. Mice with a proof-reading-deficient version of POLG display signs of premature ageing starting at about 25 weeks of age [1059]. Although the exact molecular and cellular events responsible for such phenotype are not clear, they could involve the accumulation of mitochondrial DNA mutations and an increased apoptosis [1466]. In humans, mutations in POLG have been associated with CNS diseases [1055]. Further studies are necessary to determine whether POLG plays a role in human ageing.

Cytogenetic information

Cytogenetic band
15q25
Location
89,316,305 bp to 89,334,795 bp
Orientation
Minus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0006259; DNA metabolic process
GO:0006261; DNA-dependent DNA replication
GO:0006264; mitochondrial DNA replication
GO:0006287; base-excision repair, gap-filling
GO:0007568; aging
GO:0009416; response to light stimulus
GO:0010332; response to gamma radiation
GO:0055093; response to hyperoxia
GO:0071333; cellular response to glucose stimulus
GO:0071897; DNA biosynthetic process
GO:0090305; nucleic acid phosphodiester bond hydrolysis
Cellular component: GO:0005739; mitochondrion
GO:0005760; gamma DNA polymerase complex
GO:0042645; mitochondrial nucleoid
GO:0043195; terminal bouton
GO:0043234; protein complex
GO:0070062; extracellular exosome
Function: GO:0002020; protease binding
GO:0003677; DNA binding
GO:0003682; chromatin binding
GO:0003887; DNA-directed DNA polymerase activity
GO:0005515; protein binding
GO:0008408; 3'-5' exonuclease activity
Hide GO terms

Protein interactions and network

No interactions in records.

Retrieve sequences for POLG

ORF
ORF
CDS
CDS

Homologs in model organisms

Caenorhabditis elegans
polg-1
Danio rerio
polg
Drosophila melanogaster
tam
Mus musculus
Polg
Rattus norvegicus
Polg
Saccharomyces cerevisiae
MIP1

In other databases

LongevityMap
  • This gene is present as POLG

Selected references

External links

EPD
ORF Accession
NM_002693
CDS Accession
NP_002684
OMIM
174763
HPRD
01438
Ensembl
POLG
UniProt/Swiss-Prot
DPOG1_HUMAN
GeneCards
POLG
Entrez Gene
5428
UniGene
702153
GenAtlas
POLG
Internet
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