Gene
polg
- ID
- ZDB-GENE-060303-1
- Name
- polymerase (DNA directed), gamma
- Symbol
- polg Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable 3'-5' exonuclease activity and DNA-directed DNA polymerase activity. Predicted to be involved in mitochondrial DNA replication. Predicted to act upstream of or within DNA replication. Predicted to be located in mitochondrial nucleoid. Predicted to be part of gamma DNA polymerase complex. Predicted to be active in mitochondrion. Is expressed in several structures, including digestive system; eye; fin; heart; and muscle. Used to study mitochondrial metabolism disease. Human ortholog(s) of this gene implicated in several diseases, including mitochondrial DNA depletion syndrome (multiple); mitochondrial myopathy (multiple); neurodegenerative disease (multiple); ovarian disease (multiple); and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Orthologous to human POLG (DNA polymerase gamma, catalytic subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ia302 | Allele with one deletion | Exon 3 | Frameshift | CRISPR | |
| muz119 | Allele with one delins | Unknown | Premature Stop | TALEN | |
| muz120 | Allele with one deletion | Unknown | Premature Stop | TALEN | |
| muz121 | Allele with one deletion | Unknown | Unknown | TALEN | |
| sa9574 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa44240 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Alpers-Huttenlocher syndrome | Alliance | Mitochondrial DNA depletion syndrome 4A (Alpers type) | 203700 |
| autosomal dominant progressive external ophthalmoplegia 1 | Alliance | Progressive external ophthalmoplegia, autosomal dominant 1 | 157640 |
| autosomal recessive progressive external ophthalmoplegia 1 | Alliance | Progressive external ophthalmoplegia, autosomal recessive 1 | 258450 |
| mitochondrial DNA depletion syndrome 4b | Alliance | Mitochondrial DNA depletion syndrome 4B (MNGIE type) | 613662 |
| sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Alliance | Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | 607459 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| mitochondrial metabolism disease | polgmuz120/muz120 (AB) | standard conditions | Rahn et al., 2015 |
| mitochondrial metabolism disease | polgmuz119/muz119 (AB) | standard conditions | Rahn et al., 2015 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019760 | DNA-directed DNA polymerase, family A, conserved site |
| Domain | IPR001098 | DNA-directed DNA polymerase, family A, palm domain |
| Domain | IPR041336 | DNA mitochondrial polymerase, exonuclease domain |
| Domain | IPR047580 | DNA polymerase gamma, palm domain |
| Family | IPR002297 | DNA-directed DNA-polymerase, family A, mitochondria |
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Domain Details Per Protein
| Protein | Length | DNA-directed DNA polymerase, family A, conserved site | DNA-directed DNA-polymerase, family A, mitochondria | DNA-directed DNA polymerase, family A, palm domain | DNA mitochondrial polymerase, exonuclease domain | DNA polymerase gamma, palm domain | DNA/RNA polymerase superfamily | Ribonuclease H-like superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F8W5R6
|
1206 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-198O8 | ZFIN Curated Data | |
| Contained in | BAC | CH211-200N5 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001921095 (1) | 3904 nt | ||
| Genomic | GenBank:CR854881 (1) | 193195 nt | ||
| Polypeptide | UniProtKB:F8W5R6 (1) | 1206 aa |
- Brañas Casas, R., Zuppardo, A., Risato, G., Dinarello, A., Celeghin, R., Fontana, C., Grelloni, E., Gilea, A.I., Viscomi, C., Rasola, A., Dalla Valle, L., Lodi, T., Baruffini, E., Facchinello, N., Argenton, F., Tiso, N. (2024) Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment. Cell Death & Disease. 15:281281
- Sabharwal, A., Wishman, M.D., Cervera, R.L., Serres, M.R., Anderson, J.L., Holmberg, S.R., Kar, B., Treichel, A.J., Ichino, N., Liu, W., Yang, J., Ding, Y., Deng, Y., Lacey, J.M., Laxen, W.J., Loken, P.R., Oglesbee, D., Farber, S.A., Clark, K.J., Xu, X., Ekker, S.C. (2022) Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality. eLIFE. 11:
- Castillo-Castellanos, F., Ramírez, L., Lomelí, H. (2021) zmiz1a zebrafish mutants have defective erythropoiesis, altered expression of autophagy genes, and a deficient response to vitamin D. Life sciences. 284:119900
- Facchinello, N., Laquatra, C., Locatello, L., Beffagna, G., Brañas Casas, R., Fornetto, C., Dinarello, A., Martorano, L., Vettori, A., Risato, G., Celeghin, R., Meneghetti, G., Santoro, M.M., Delahodde, A., Vanzi, F., Rasola, A., Dalla Valle, L., Rasotto, M.B., Lodi, T., Baruffini, E., Argenton, F., Tiso, N. (2021) Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish. Cell Death & Disease. 12:100
- Lin, H., Lin, F., Yuan, J., Cui, F., Chen, J. (2021) Toxic effects and potential mechanisms of Fluxapyroxad to zebrafish (Danio rerio) embryos. The Science of the total environment. 769:144519
- Park, K.H., Gooz, M., Ye, Z.W., Zhang, J., Beeson, G.C., Rockey, D.C., Kim, S.H. (2021) Flavin Adenine Dinucleotide Depletion Caused by electron transfer flavoprotein subunit alpha Haploinsufficiency Leads to Hepatic Steatosis and Injury in Zebrafish. Hepatology communications. 5:976-991
- Giarmarco, M.M., Brock, D.C., Robbings, B.M., Cleghorn, W.M., Tsantilas, K.A., Kuch, K.C., Ge, W., Rutter, K.M., Parker, E.D., Hurley, J.B., Brockerhoff, S.E. (2020) Daily mitochondrial dynamics in cone photoreceptors. Proceedings of the National Academy of Sciences of the United States of America. 117:28816-28827
- Gut, P., Matilainen, S., Meyer, J.G., Pällijeff, P., Richard, J., Carroll, C.J., Euro, L., Jackson, C.B., Isohanni, P., Minassian, B.A., Alkhater, R.A., Østergaard, E., Civiletto, G., Parisi, A., Thevenet, J., Rardin, M.J., He, W., Nishida, Y., Newman, J.C., Liu, X., Christen, S., Moco, S., Locasale, J.W., Schilling, B., Suomalainen, A., Verdin, E. (2020) SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease. Nature communications. 11:5927
- Kesh, S., Kannan, R.R., Balakrishnan, A. (2020) Naringenin alleviates 6-hydroxydopamine induced Parkinsonism in SHSY5Y cells and zebrafish model. Comparative biochemistry and physiology. Toxicology & pharmacology : CBP. 239:108893
- Kesh, S., Kannan, R.R., Sivaji, K., Balakrishnan, A. (2020) Hesperidin downregulates kinases lrrk2 and gsk3β in a 6-OHDA induced Parkinson's disease model. Neuroscience letters. 740:135426
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