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Aliases for POLG Gene

Aliases for POLG Gene

  • Polymerase (DNA Directed), Gamma 2 3
  • POLG1 3 4 6
  • POLGA 3 4 6
  • Mitochondrial DNA Polymerase Catalytic Subunit 3 4
  • PolG-Alpha 3 4
  • EC 2.7.7.7 4 63
  • MTDPS4A 3 6
  • MTDPS4B 3 6
  • MIRAS 3 6
  • SANDO 3 6
  • SCAE 3 6
  • MDP1 3 4
  • PEO 3 6
  • DNA Polymerase Subunit Gamma-1 3

External Ids for POLG Gene

Previous GeneCards Identifiers for POLG Gene

  • GC15M086198
  • GC15M083225
  • GC15M087446
  • GC15M087589
  • GC15M087559
  • GC15M087660
  • GC15M089859
  • GC15M065971

Summaries for POLG Gene

Entrez Gene Summary for POLG Gene

  • 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]

GeneCards Summary for POLG Gene

POLG (Polymerase (DNA Directed), Gamma) is a Protein Coding gene. Diseases associated with POLG include mitochondrial dna depletion syndrome 4b and mitochondrial dna depletion syndrome 4a. Among its related pathways are Metabolism and Chks in Checkpoint Regulation. GO annotations related to this gene include chromatin binding and DNA-directed DNA polymerase activity.

UniProtKB/Swiss-Prot for POLG Gene

  • Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA

Gene Wiki entry for POLG Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLG Gene

Genomics for POLG Gene

Regulatory Elements for POLG Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for POLG Gene

Start:
89,316,303 bp from pter
End:
89,334,861 bp from pter
Size:
18,559 bases
Orientation:
Minus strand

Genomic View for POLG Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POLG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLG Gene

Proteins for POLG Gene

  • Protein details for POLG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54098-DPOG1_HUMAN
    Recommended name:
    DNA polymerase subunit gamma-1
    Protein Accession:
    P54098
    Secondary Accessions:
    • Q8NFM2
    • Q92515

    Protein attributes for POLG Gene

    Size:
    1239 amino acids
    Molecular mass:
    139562 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits

    Three dimensional structures from OCA and Proteopedia for POLG Gene

neXtProt entry for POLG Gene

Proteomics data for POLG Gene at MOPED

Post-translational modifications for POLG Gene

  • Ubiquitination at Lys371, Lys379, Lys601, Lys633, Lys755, Lys768, Lys796, Lys934, Lys947, Lys981, Lys1040, Lys1060, Lys1198, and Lys1228
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for POLG (POLG)

Domains for POLG Gene

Gene Families for POLG Gene

HGNC:
  • POL :DNA polymerases

Graphical View of Domain Structure for InterPro Entry

P54098

UniProtKB/Swiss-Prot:

DPOG1_HUMAN :
  • P54098
Family:
  • Belongs to the DNA polymerase type-A family.
genes like me logo Genes that share domains with POLG: view

Function for POLG Gene

Molecular function for POLG Gene

GENATLAS Biochemistry:
polymerase,(DNA directed) gamma,139.5kDa mitochondrial,with a (CAG)n repeat in the first exon,not altered in disorders with mitochondrial genome instability
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)
UniProtKB/Swiss-Prot Function:
Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA

Enzyme Numbers (IUBMB) for POLG Gene

Gene Ontology (GO) - Molecular Function for POLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 14739292
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 18063578
GO:0003887 DNA-directed DNA polymerase activity IDA 15164064
genes like me logo Genes that share ontologies with POLG: view
genes like me logo Genes that share phenotypes with POLG: view

Animal Models for POLG Gene

MGI Knock Outs for POLG:

No data available for Transcription Factor Targeting and HOMER Transcription for POLG Gene

Localization for POLG Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLG Gene

Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLG Gene COMPARTMENTS Subcellular localization image for POLG gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for POLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 8884268
GO:0005743 mitochondrial inner membrane IEA --
GO:0005760 gamma DNA polymerase complex IEA --
GO:0042645 mitochondrial nucleoid IDA 18063578
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with POLG: view

Pathways for POLG Gene

genes like me logo Genes that share pathways with POLG: view

Pathways by source for POLG Gene

1 BioSystems pathway for POLG Gene
1 KEGG pathway for POLG Gene

Gene Ontology (GO) - Biological Process for POLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006259 DNA metabolic process TAS 8884268
GO:0006260 DNA replication --
GO:0006261 DNA-dependent DNA replication TAS 3619920
GO:0006264 mitochondrial DNA replication IEA --
GO:0006287 base-excision repair, gap-filling IDA 15177179
genes like me logo Genes that share ontologies with POLG: view

Compounds for POLG Gene

(1) ApexBio Compounds for POLG Gene

Compound Action Cas Number
Vitamin D2 (Ergocalciferol) DNA Polymerase inhibitor [50-14-6]

(7) HMDB Compounds for POLG Gene

Compound Synonyms Cas Number PubMed IDs
dATP
  • 2'-Deoxy-5'-ATP
1927-31-7
dCTP
  • 2'-deoxycytidine-5'-triphosphate
2056-98-6
dGTP
  • 2'-Deoxyguanosine 5'-triphosphate
2564-35-4
Magnesium
  • Magnesium
7439-95-4
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2

(32) Novoseek inferred chemical compound relationships for POLG Gene

Compound -log(P) Hits PubMed IDs
nucleoside 79.6 36
stavudine 72.7 4
dgtp 68.2 2
diethyl dithiocarbamate 67 5
zidovudine 66.5 6

(1) PharmGKB related drug/compound annotations for POLG Gene

Drug/compound Annotation
valproic acid
genes like me logo Genes that share compounds with POLG: view

Transcripts for POLG Gene

Unigene Clusters for POLG Gene

Polymerase (DNA directed), gamma:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POLG

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLG Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c ·
SP1: -
SP2: -
SP3:
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: - -
SP18:
SP19:
SP20:
SP21: -
SP22:

ExUns: 12d ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c ^ 27
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11: - - -
SP12: -
SP13:
SP14: -
SP15:
SP16:
SP17: -
SP18:
SP19: - - - - - - -
SP20:
SP21:
SP22:

Relevant External Links for POLG Gene

GeneLoc Exon Structure for
POLG
ECgene alternative splicing isoforms for
POLG

Expression for POLG Gene

mRNA expression in normal human tissues for POLG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for POLG Gene

This gene is overexpressed in Brain (26.0) and Lymph node (6.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLG Gene

SOURCE GeneReport for Unigene cluster for POLG Gene Hs.706868

genes like me logo Genes that share expressions with POLG: view

Expression partners for POLG Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for POLG Gene

Orthologs for POLG Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLG Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POLG 35
  • 88.46 (n)
  • 88.64 (a)
POLG 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLG 35
  • 89.64 (n)
  • 88.64 (a)
POLG 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polg 35
  • 87.21 (n)
  • 88 (a)
Polg 16
Polg 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLG 35
  • 99.41 (n)
  • 99.35 (a)
POLG 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polg 35
  • 87.55 (n)
  • 86.92 (a)
oppossum
(Monodelphis domestica)
Mammalia POLG 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLG 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLG 35
  • 74.39 (n)
  • 74.89 (a)
POLG 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLG 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488393 35
  • 65.37 (n)
  • 68.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC397851 35
zebrafish
(Danio rerio)
Actinopterygii Dr.19790 35
polg 35
  • 67.91 (n)
  • 71.14 (a)
polg 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tam 37
  • 44 (a)
tam 35
  • 54.73 (n)
  • 50.48 (a)
tam 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000139 35
  • 56.17 (n)
  • 50.67 (a)
worm
(Caenorhabditis elegans)
Secernentea Y57A10A.15 37
  • 37 (a)
polg-1 36
  • 32 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR357C 35
  • 50.56 (n)
  • 42.95 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIP1 35
  • 49.25 (n)
  • 44.62 (a)
MIP1 36
  • 32 (a)
OneToOne
MIP1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU00276 35
  • 52.4 (n)
  • 46.2 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pog1 35
  • 47.43 (n)
  • 44.41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for POLG:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLG Gene

ENSEMBL:
Gene Tree for POLG (if available)
TreeFam:
Gene Tree for POLG (if available)

Paralogs for POLG Gene

No data available for Paralogs for POLG Gene

Variants for POLG Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for POLG Gene

P54098-DPOG1_HUMAN
The poly-Gln region seems to be polymorphic

Sequence variations from dbSNP and Humsavar for POLG Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs176638 -- 89,331,382(+) GAGGC(C/T)ATGGT intron-variant
rs758130 -- 89,330,566(+) CTATC(A/G)AGGTG intron-variant
rs1054875 -- 89,335,895(+) GGACT(A/T)CAGAA upstream-variant-2KB
rs1860023 -- 89,320,483(+) TTGAT(G/T)ATGCA intron-variant
rs2072266 -- 89,323,723(+) GACCT(A/G)GGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POLG Gene

Variant ID Type Subtype PubMed ID
nsv833086 CNV Loss 17160897
esv2749999 CNV Deletion 23290073
esv2750000 CNV Deletion 23290073
esv2678873 CNV Deletion 23128226
esv1642918 CNV Deletion 17803354
esv2672032 CNV Deletion 23128226
esv2676746 CNV Deletion 23128226
esv2750001 CNV Deletion 23290073
esv270532 CNV Insertion 20981092
esv23656 CNV Loss 19812545

Relevant External Links for POLG Gene

HapMap Linkage Disequilibrium report
POLG
Human Gene Mutation Database (HGMD)
POLG

Disorders for POLG Gene

(5) OMIM Diseases for POLG Gene (174763)

UniProtKB/Swiss-Prot

DPOG1_HUMAN
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]: A disorder is characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269 PubMed:12210792, ECO:0000269 PubMed:15351195, ECO:0000269 PubMed:15534189, ECO:0000269 PubMed:17420318, ECO:0000269 PubMed:18575922}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]: A severe form of progressive external ophthalmoplegia. It is clinically more heterogeneous than the autosomal dominant forms. {ECO:0000269 PubMed:11431686, ECO:0000269 PubMed:12565911, ECO:0000269 PubMed:12707443, ECO:0000269 PubMed:12872260, ECO:0000269 PubMed:12975295, ECO:0000269 PubMed:14635118, ECO:0000269 PubMed:15349879, ECO:0000269 PubMed:15351195, ECO:0000269 PubMed:15477547, ECO:0000269 PubMed:15917273, ECO:0000269 PubMed:16401742, ECO:0000269 PubMed:16621917, ECO:0000269 PubMed:16634032, ECO:0000269 PubMed:16639411}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]: A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. An atypical form of the disease is characterized by headaches and/or seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia, dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood. {ECO:0000269 PubMed:12565911, ECO:0000269 PubMed:14745080, ECO:0000269 PubMed:15477547, ECO:0000269 PubMed:15824347, ECO:0000269 PubMed:15917273, ECO:0000269 PubMed:16080118, ECO:0000269 PubMed:16621917, ECO:0000269 PubMed:16639411, ECO:0000269 PubMed:16919951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]: An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis. {ECO:0000269 PubMed:15122711, ECO:0000269 PubMed:15689359, ECO:0000269 PubMed:15929042, ECO:0000269 PubMed:16621917, ECO:0000269 PubMed:16639411, ECO:0000269 PubMed:18828154}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]: An autosomal recessive progressive multisystem disorder due to mitochondrial dysfunction. It is clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness. {ECO:0000269 PubMed:12825077, ECO:0000269 PubMed:19307547}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:18828154}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(38) Novoseek inferred disease relationships for POLG Gene

Disease -log(P) Hits PubMed IDs
alpers syndrome 96.8 34
progressive external ophthalmoplegia 94.8 37
mitochondrial diseases 89.3 25
mngie 83.8 4
acidosis lactic 75 6

Relevant External Links for POLG

Genetic Association Database (GAD)
POLG
Human Genome Epidemiology (HuGE) Navigator
POLG
genes like me logo Genes that share disorders with POLG: view

No data available for Genatlas for POLG Gene

Publications for POLG Gene

  1. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. (PMID: 17420318) Hudson G. … Chinnery P.F. (Arch. Neurol. 2007) 3 4 23 48
  2. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. (PMID: 12975295) Filosto M. … DiMauro S. (Arch. Neurol. 2003) 3 4 23 48
  3. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. (PMID: 12872260) Van Goethem G. … Van Broeckhoven C. (Hum. Mutat. 2003) 3 4 23
  4. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. (PMID: 12825077) Van Goethem G. … Vissing J. (Eur. J. Hum. Genet. 2003) 3 4 23
  5. Patient homozygous for a recessive POLG mutation presents with features of MERRF. (PMID: 14694057) Van Goethem G. … Van Broeckhoven C. (Neurology 2003) 3 4 23

Products for POLG Gene

Sources for POLG Gene

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