Gene
gars1
- ID
- ZDB-GENE-030131-9174
- Name
- glycyl-tRNA synthetase 1
- Symbol
- gars1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable ATP binding activity; glycine-tRNA ligase activity; and transferase activity. Acts upstream of or within swimming behavior; synaptic assembly at neuromuscular junction; and translation. Predicted to be located in axon and mitochondrion. Is expressed in several structures, including anterior neural keel; central nervous system; digestive system; heart; and segmental plate. Used to study Charcot-Marie-Tooth disease type 2. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2D and autosomal dominant distal hereditary motor neuronopathy 5. Orthologous to human GARS1 (glycyl-tRNA synthetase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7144596 (11 images)
- IMAGE:7162501 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| s266 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa13782 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24482 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa24483 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37871 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 5 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 5 | 600794 |
| Charcot-Marie-Tooth disease type 2D | Alliance | Charcot-Marie-Tooth disease, type 2D | 601472 |
| Spinal muscular atrophy, infantile, James type | 619042 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 2 | gars1s266/s266 | standard conditions | Malissovas et al., 2016 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Aminoacyl-tRNA synthetase, class II | Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) | Anticodon-binding | Anticodon-binding domain superfamily | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) | Glycyl-tRNA synthetase | Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2 | Glycyl-tRNA synthetase-like core domain | uS15/NS1, RNA-binding domain superfamily | WHEP-TRS domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0AB13A8A7 | InterPro | 749 |
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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 | DKEY-276I5 | ZFIN Curated Data | |
| Encodes | EST | fb02f03 | ||
| Encodes | EST | IMAGE:7144596 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7162501 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001386453 (1) | 2617 nt | ||
| Genomic | GenBank:BX571770 (1) | 166454 nt | ||
| Polypeptide | UniProtKB:A0AB13A8A7 (1) | 749 aa |
- Lin, S.J., Huang, K., Petree, C., Qin, W., Varshney, P., Varshney, G.K. (2025) Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function. Nucleic acids research. 53:
- Zhang, Y., Liu, Y., Qin, W., Zheng, S., Xiao, J., Xia, X., Yuan, X., Zeng, J., Shi, Y., Zhang, Y., Ma, H., Varshney, G.K., Fei, J.F., Liu, Y. (2024) Cytosine base editors with increased PAM and deaminase motif flexibility for gene editing in zebrafish. Nature communications. 15:95269526
- Jeong, H.S., Kim, H.J., Kim, D.H., Chung, K.W., Choi, B.O., Lee, J.E. (2022) Therapeutic Potential of CKD-504, a Novel Selective Histone Deacetylase 6 Inhibitor, in a Zebrafish Model of Neuromuscular Junction Disorders. Molecules and cells. 45(4):231-242
- 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
- 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
- Capon, S.J., Baillie, G.J., Bower, N.I., da Silva, J.A., Paterson, S., Hogan, B.M., Simons, C., Smith, K.A. (2017) Utilising polymorphisms to achieve allele-specific genome editing in zebrafish. Biology Open. 6(1):125-131
- 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
- Holloway, M.P., DeNardo, B.D., Phornphutkul, C., Nguyen, K., Davis, C., Jackson, C., Richendrfer, H., Creton, R., Altura, R.A. (2016) An asymptomatic mutation complicating severe chemotherapy-induced peripheral neuropathy (CIPN): a case for personalised medicine and a zebrafish model of CIPN. NPJ genomic medicine. 1:16016
- Malissovas, N., Griffin, L.B., Antonellis, A., Beis, D. (2016) Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease. Human molecular genetics. 25:1528-42
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