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

Gene ID: 5428, updated on 12-Aug-2018

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; 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]
Expression
Ubiquitous expression in lymph node (RPKM 14.2), spleen (RPKM 13.3) and 25 other tissues See more
Orthologs

Genomic context

See POLG in Genome Data Viewer
Location:
15q26.1
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 vesicle-associated membrane protein-associated protein A pseudogene Neighboring gene retinaldehyde binding protein 1 Neighboring gene FA complementation group I Neighboring gene transfer RNA-Arg (TCG) 1-1 Neighboring gene microRNA 6766 Neighboring gene MIR9-3 host gene Neighboring gene microRNA 9-3

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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
gamma DNA polymerase complex IEA
Inferred from Electronic Annotation
more info
 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
terminal bouton IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
DNA polymerase subunit gamma-1
Names
PolG-alpha
mitochondrial DNA polymerase catalytic subunit
polymerase (DNA directed), gamma
polymerase (DNA) gamma, catalytic subunit
truncated mitochondrial DNA polymerase gamma catalytic subunit
NP_001119603.1
NP_002684.1

NCBI Reference Sequences (RefSeq)

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_001126131.1NP_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/Swiss-Prot
    P54098
    UniProtKB/TrEMBL
    E5KNU5
    Related
    ENSP00000399851.2, OTTHUMP00000236192, ENST00000442287.6, 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/Swiss-Prot
    P54098
    UniProtKB/TrEMBL
    E5KNU5
    Related
    ENSP00000268124.5, OTTHUMP00000194455, ENST00000268124.9, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

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