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# | Reference Title | Reference Citation |
1. | Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. | Chan SS, etal., DNA Repair (Amst). 2005 Dec 8;4(12):1381-9. Epub 2005 Sep 21. |
2. | Oxidative stress-induced retinal damage up-regulates DNA polymerase gamma and 8-oxoguanine-DNA-glycosylase in photoreceptor synaptic mitochondria. | Cortina MS, etal., Exp Eye Res. 2005 Dec;81(6):742-50. Epub 2005 Jun 24. |
3. | Effects of mitochondrial mutations on hearing and cochlear pathology with age. | Crawley BK and Keithley EM, Hear Res. 2011 Oct;280(1-2):201-8. doi: 10.1016/j.heares.2011.05.015. Epub 2011 Jun 1. |
4. | Early-onset familial parkinsonism due to POLG mutations. | Davidzon G, etal., Ann Neurol. 2006 May;59(5):859-62. |
5. | Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism. | Dolhun R, etal., BMC Neurol. 2013 Jul 18;13:92. doi: 10.1186/1471-2377-13-92. |
6. | POLG1 variations presenting as multiple sclerosis. | Echaniz-Laguna A, etal., Arch Neurol. 2010 Sep;67(9):1140-3. doi: 10.1001/archneurol.2010.219. |
7. | POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. | Engelsen BA, etal., Brain. 2008 Mar;131(Pt 3):818-28. doi: 10.1093/brain/awn007. Epub 2008 Jan 30. |
8. | Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. | Ferrari G, etal., Brain. 2005 Apr;128(Pt 4):723-31. Epub 2005 Feb 2. |
9. | Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. | Filosto M, etal., Arch Neurol. 2003 Sep;60(9):1279-84. |
10. | Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. | Gati I, etal., Acta Myol. 2011 Dec;30(3):188-90. |
11. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
12. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
13. | Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. | Gonzalez-Vioque E, etal., Arch Neurol. 2006 Jan;63(1):107-11. |
14. | Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. | Hudson G, etal., Arch Neurol. 2007 Apr;64(4):553-7. |
15. | Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy. | Hynynen J, etal., Epilepsia. 2018 Nov;59(11):2125-2136. doi: 10.1111/epi.14568. Epub 2018 Sep 26. |
16. | Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation. | Hynynen J, etal., Liver Transpl. 2014 Nov;20(11):1402-12. doi: 10.1002/lt.23965. Epub 2014 Oct 3. |
17. | Mitochondrial DNA damage and impaired base excision repair during epileptogenesis. | Jarrett SG, etal., Neurobiol Dis. 2008 Apr;30(1):130-8. Epub 2008 Jan 5. |
18. | Induction of DNA polymerase beta and gamma in the lungs of age-related oxygen tolerant rats. | Jinno S, etal., Mech Ageing Dev. 1995 Nov 24;85(2-3):95-107. |
19. | Age-related changes in the induction of DNA polymerases in rat liver by gamma-ray irradiation. | Kaneko T, etal., Mech Ageing Dev. 2002 Sep;123(11):1521-8. |
20. | Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes. | Kasahara T, etal., Mol Psychiatry. 2006 Jun;11(6):577-93, 523. |
21. | POLG1 mutations associated with progressive encephalopathy in childhood. | Kollberg G, etal., J Neuropathol Exp Neurol. 2006 Aug;65(8):758-68. |
22. | A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. | Kurt B, etal., Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332. |
23. | Evidence for a direct role of the DNA polymerase gamma in the replication of the human mitochondrial DNA in vitro. | Lestienne P Biochem Biophys Res Commun 1987 Aug 14;146(3):1146-53. |
24. | Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma. | Lewis W, etal., Lab Invest. 2007 Apr;87(4):326-35. Epub 2006 Feb 19. |
25. | Polymorphisms in POLG were associated with the prognosis and mtDNA content in hepatocellular carcinoma patients. | Long X, etal., Bull Cancer. 2017 Jun;104(6):500-507. doi: 10.1016/j.bulcan.2017.02.005. Epub 2017 Apr 28. |
26. | Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. | Luoma P, etal., Lancet. 2004 Sep 4-10;364(9437):875-82. |
27. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
28. | Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. | Milone M, etal., Neuromuscul Disord. 2008 Aug;18(8):626-32. doi: 10.1016/j.nmd.2008.05.009. Epub 2008 Jun 27. |
29. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
30. | Increase in DNA polymerase gamma in the hearts of adriamycin-administered rats. | Ogihara M, etal., Exp Mol Pathol 2002 Dec;73(3):234-41. |
31. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
32. | Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. | Pagnamenta AT, etal., Hum Reprod. 2006 Oct;21(10):2467-73. Epub 2006 Apr 4. |
33. | GOA pipeline | RGD automated data pipeline |
34. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
35. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
36. | Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma. | Ropp PA and Copeland WC, Genomics 1996 Sep 15;36(3):449-58. |
37. | POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. | Schicks J, etal., Mov Disord. 2010 Nov 15;25(15):2678-82. doi: 10.1002/mds.23286. |
38. | Phenotypic and genotypic variability in Alpers syndrome. | Sofou K, etal., Eur J Paediatr Neurol. 2012 Jul;16(4):379-89. doi: 10.1016/j.ejpn.2011.12.006. Epub 2012 Jan 10. |
39. | Damaged mitochondrial DNA replication system and the development of diabetic retinopathy. | Tewari S, etal., Antioxid Redox Signal. 2012 Aug 1;17(3):492-504. doi: 10.1089/ars.2011.4333. Epub 2012 Feb 17. |
40. | Mitochondria DNA replication and DNA methylation in the metabolic memory associated with continued progression of diabetic retinopathy. | Tewari S, etal., Invest Ophthalmol Vis Sci. 2012 Jul 24;53(8):4881-8. doi: 10.1167/iovs.12-9732. |
41. | Premature ageing in mice expressing defective mitochondrial DNA polymerase. | Trifunovic A, etal., Nature. 2004 May 27;429(6990):417-23. |
42. | Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. | Van Goethem G, etal., Eur J Hum Genet. 2003 Jul;11(7):547-9. |
43. | Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. | Van Goethem G, etal., Nat Genet 2001 Jul;28(3):211-2. |
44. | Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. | Van Goethem G, etal., Neuromuscul Disord. 2003 Feb;13(2):133-42. |
45. | Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. | Winterthun S, etal., Neurology. 2005 Apr 12;64(7):1204-8. |
PMID:10608893 | PMID:12865426 | PMID:14651853 | PMID:14739292 | PMID:15167897 | PMID:15177179 | PMID:15888483 | PMID:18063578 | PMID:18614015 | PMID:19837034 | PMID:19858216 | PMID:20808729 |
PMID:23376485 | PMID:25378300 | PMID:26123486 | PMID:26446790 | PMID:26554610 | PMID:28430993 | PMID:32958672 |
Polg (Rattus norvegicus - Norway rat) |
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POLG (Homo sapiens - human) |
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Polg (Mus musculus - house mouse) |
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Polg (Chinchilla lanigera - long-tailed chinchilla) |
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POLG (Pan paniscus - bonobo/pygmy chimpanzee) |
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POLG (Canis lupus familiaris - dog) |
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Polg (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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POLG (Sus scrofa - pig) |
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POLG (Chlorocebus sabaeus - green monkey) |
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Polg (Heterocephalus glaber - naked mole-rat) |
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Variants in Polg
56 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
MARC_7859-7860:996688105:3 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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nervous system
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renal system
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reproductive system
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respiratory system
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9 | 11 | 49 | 113 | 91 | 90 | 59 | 25 | 59 | 6 | 218 | 97 | 93 | 45 | 60 | 31 |
RefSeq Transcripts | NM_053528 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_008759561 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039092948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063275928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063275929 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063275941 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AJ245646 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AJ245647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ228205 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000044567 ⟹ ENSRNOP00000047900 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_053528 ⟹ NP_445980 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008759561 ⟹ XP_008757783 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039092948 ⟹ XP_038948876 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063275928 ⟹ XP_063131998 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063275929 ⟹ XP_063131999 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063275941 ⟹ XP_063132011 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_445980 | (Get FASTA) | NCBI Sequence Viewer |
XP_008757783 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038948876 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063131998 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063131999 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063132011 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | CAB56206 | (Get FASTA) | NCBI Sequence Viewer |
CAB56207 | (Get FASTA) | NCBI Sequence Viewer | |
EDM08579 | (Get FASTA) | NCBI Sequence Viewer | |
EDM08580 | (Get FASTA) | NCBI Sequence Viewer | |
EDM08581 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000047900.4 | ||
GenBank Protein | Q9QYV8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_445980 ⟸ NM_053528 |
- UniProtKB: | Q9QYV8 (UniProtKB/Swiss-Prot), Q9QYV7 (UniProtKB/Swiss-Prot), A6JC54 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_008757783 ⟸ XM_008759561 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8L2QQ69 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000047900 ⟸ ENSRNOT00000044567 |
RefSeq Acc Id: | XP_038948876 ⟸ XM_039092948 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_063132011 ⟸ XM_063275941 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_063131999 ⟸ XM_063275929 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q9QYV8 (UniProtKB/Swiss-Prot), Q9QYV7 (UniProtKB/Swiss-Prot), A6JC54 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063131998 ⟸ XM_063275928 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8L2QQ69 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9QYV8-F1-model_v2 | AlphaFold | Q9QYV8 | 1-1216 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:620057 | AgrOrtholog |
BioCyc Gene | G2FUF-58806 | BioCyc |
Ensembl Genes | ENSRNOG00000032293 | Ensembl, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000044567.5 | UniProtKB/TrEMBL |
Gene3D-CATH | 1.20.5.3960 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.30.420.390 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.30.70.370 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
5' to 3' exonuclease, C-terminal subdomain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | DNA-dir_DNA_pol_A_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DNA-dir_DNA_pol_A_mt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DNA-dir_DNA_pol_A_palm_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DNA/RNA_pol_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DNApol_Exo | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
POLG_palm_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RNaseH-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:85472 | UniProtKB/Swiss-Prot |
NCBI Gene | 85472 | ENTREZGENE |
PANTHER | DNA POLYMERASE SUBUNIT GAMMA-1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR10267 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DNApol_Exo | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Polg | PhenoGen |
PIRSF | DNA_pol_mt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PRINTS | DNAPOLG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | DNA_POLYMERASE_A | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000032293 | RatGTEx |
SMART | POLAc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53098 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF56672 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A8L2QQ69 | ENTREZGENE, UniProtKB/TrEMBL |
A6JC52_RAT | UniProtKB/TrEMBL | |
A6JC54 | ENTREZGENE, UniProtKB/TrEMBL | |
DPOG1_RAT | UniProtKB/Swiss-Prot | |
Q9QYV7 | ENTREZGENE | |
Q9QYV8 | ENTREZGENE | |
UniProt Secondary | Q9QYV7 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-07-21 | Polg | DNA polymerase gamma, catalytic subunit | Polg | polymerase (DNA) gamma, catalytic subunit | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2016-03-09 | Polg | polymerase (DNA) gamma, catalytic subunit | Polg | polymerase (DNA directed), gamma | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2004-09-10 | Polg | polymerase (DNA directed), gamma | DNA polymerase gamma | Name updated | 1299863 | APPROVED | |
2002-08-07 | Polg | DNA polymerase gamma | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_expression | activity present in heart | 724601 |
gene_regulation | activity induced by adriamycin treatment | 724601 |