Gene
mars1
- ID
- ZDB-GENE-030219-83
- Name
- methionyl-tRNA synthetase 1
- Symbol
- mars1 Nomenclature History
- Previous Names
-
- mars
- metrs
- id:ibd5106
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable methionine-tRNA ligase activity. Predicted to be involved in methionyl-tRNA aminoacylation. Predicted to act upstream of or within tRNA aminoacylation for protein translation. Predicted to be part of aminoacyl-tRNA synthetase multienzyme complex. Predicted to be active in cytosol. Is expressed in several structures, including brain; digestive system; immature eye; pectoral fin bud; and swim bladder. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2U; hereditary spastic paraplegia 70; and nonphotosensitive trichothiodystrophy 9. Orthologous to human MARS1 (methionyl-tRNA synthetase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi4134Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| sa7590 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa16933 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa33988 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa40814 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa40815 | 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 |
|---|---|---|---|
| Charcot-Marie-Tooth disease axonal type 2U | Alliance | Charcot-Marie-Tooth disease, axonal, type 2U | 616280 |
| hereditary spastic paraplegia 70 | Alliance | Spastic paraplegia 70, autosomal recessive | 620323 |
| nonphotosensitive trichothiodystrophy 9 | Alliance | ?Trichothiodystrophy 9, nonphotosensitive | 619692 |
| Interstitial lung and liver disease | 615486 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001412 | Aminoacyl-tRNA synthetase, class I, conserved site |
| Domain | IPR000738 | WHEP-TRS domain |
| Domain | IPR010987 | Glutathione S-transferase, C-terminal-like |
| Domain | IPR015413 | Methionyl/Leucyl tRNA synthetase |
| Domain | IPR033911 | Methioninyl-tRNA synthetase core domain |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Aminoacyl-tRNA synthetase, class Ia, anticodon-binding | Aminoacyl-tRNA synthetase, class I, conserved site | Glutathione S-transferase, C-terminal domain superfamily | Glutathione S-transferase, C-terminal-like | Methionine--tRNA ligase, N-terminal | Methionine-tRNA ligase, type 1 | Methioninyl-tRNA synthetase core domain | Methionyl/Leucyl tRNA synthetase | Methionyl-tRNA synthetase | Methionyl-tRNA synthetase, anticodon-binding domain | Methionyl-tRNA synthetase, Zn-domain | Rossmann-like alpha/beta/alpha sandwich fold | Thioredoxin-like superfamily | uS15/NS1, RNA-binding domain superfamily | WHEP-TRS domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6TEM5 | InterPro | 922 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(4xnrUAS:Cerulean-2A-mars1-HISTAG) |
| 1 | Shahar et al., 2020 | ||
| Tg(4xnrUAS:CFP-2A-mars1_L270G) |
| 1 | Zebrafish Nomenclature Committee | ||
| Tg(elavl3:mars1_L270G) |
|
| 1 | Shahar et al., 2020 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-125M22 | ZFIN Curated Data | |
| Encodes | EST | ibd5106 | ||
| Encodes | cDNA | MGC:66122 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200076 (1) | 3174 nt | ||
| Genomic | GenBank:BX950854 (1) | 171896 nt | ||
| Polypeptide | UniProtKB:Q6TEM5 (1) | 922 aa |
- Giong, H.K., Lee, J.S. (2021) Systematic expression profiling of neuropathy-related aminoacyl-tRNA synthetases in zebrafish during development. Biochemical and Biophysical Research Communications. 587:92-98
- Lin, S.J., Vona, B., Barbalho, P.G., Kaiyrzhanov, R., Maroofian, R., Petree, C., Severino, M., Stanley, V., Varshney, P., Bahena, P., Alzahrani, F., Alhashem, A., Pagnamenta, A.T., Aubertin, G., Estrada-Veras, J.I., Hernández, H.A.D., Mazaheri, N., Oza, A., Thies, J., Renaud, D.L., Dugad, S., McEvoy, J., Sultan, T., Pais, L.S., Tabarki, B., Villalobos-Ramirez, D., Rad, A., Genomics England Research Consortium, Galehdari, H., Ashrafzadeh, F., Sahebzamani, A., Saeidi, K., Torti, E., Elloumi, H.Z., Mora, S., Palculict, T.B., Yang, H., Wren, J.D., Ben Fowler, ., Joshi, M., Behra, M., Burgess, S.M., Nath, S.K., Hanna, M.G., Kenna, M., Merritt, J.L., Houlden, H., Karimiani, E.G., Zaki, M.S., Haaf, T., Alkuraya, F.S., Gleeson, J.G., Varshney, G.K. (2021) Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. Genetics in medicine : official journal of the American College of Medical Genetics. 23(10):1933-1943
- Zhang, F., Zeng, Q.Y., Xu, H., Xu, A.N., Liu, D.J., Li, N.Z., Chen, Y., Jin, Y., Xu, C.H., Feng, C.Z., Zhang, Y.L., Liu, D., Liu, N., Xie, Y.Y., Yu, S.H., Yuan, H., Xue, K., Shi, J.Y., Liu, T.X., Xu, P.F., Zhao, W.L., Zhou, Y., Wang, L., Huang, Q.H., Chen, Z., Chen, S.J., Zhou, X.L., Sun, X.J. (2021) Selective and competitive functions of the AAR and UPR pathways in stress-induced angiogenesis. Cell discovery. 7:98
- Shahar, O.D., Schuman, E.M. (2020) Large-scale cell-type-specific imaging of protein synthesis in a vertebrate brain. eLIFE. 9:
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Waldron, A.L., Cahan, S.H., Franklyn, C.S., Ebert, A.M. (2017) A single Danio rerio hars gene encodes both cytoplasmic and mitochondrial histidyl-tRNA synthetases. PLoS One. 12:e0185317
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Novarino, G., Fenstermaker, A.G., Zaki, M.S., Hofree, M., Silhavy, J.L., Heiberg, A.D., Abdellateef, M., Rosti, B., Scott, E., Mansour, L., Masri, A., Kayserili, H., Al-Aama, J.Y., Abdel-Salam, G.M., Karminejad, A., Kara, M., Kara, B., Bozorgmehri, B., Ben-Omran, T., Mojahedi, F., Mahmoud, I.G., Bouslam, N., Bouhouche, A., Benomar, A., Hanein, S., Raymond, L., Forlani, S., Mascaro, M., Selim, L., Shehata, N., Al-Allawi, N., Bindu, P.S., Azam, M., Gunel, M., Caglayan, A., Bilguvar, K., Tolun, A., Issa, M.Y., Schroth, J., Spencer, E.G., Rosti, R.O., Akizu, N., Vaux, K.K., Johansen, A., Koh, A.A., Megahed, H., Durr, A., Brice, A., Stevanin, G., Gabriel, S.B., Ideker, T., and Gleeson, J.G. (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science (New York, N.Y.). 343(6170):506-511
- Swartz, M.E., Wells, M.B., Griffin, M., McCarthy, N., Lovely, C.B., McGurk, P., Rozacky, J., and Eberhart, J.K. (2014) A Screen of Zebrafish Mutants Identifies Ethanol-Sensitive Genetic Loci. Alcoholism, clinical and experimental research. 38(3):694-703
- Amsterdam, A., Nissen, R.M., Sun, Z., Swindell, E., Farrington, S., and Hopkins, N. (2004) Identification of 315 genes essential for early zebrafish development. Proceedings of the National Academy of Sciences of the United States of America. 101(35):12792-12797
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