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 glycine-tRNA ligase activity. Acts upstream of or within swimming behavior; synaptic assembly at neuromuscular junction; and translation. Predicted to be active in 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
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 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Charcot-Marie-Tooth disease type 2 | gars1s266/s266 | standard conditions | Malissovas et al., 2016 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000738 | WHEP-TRS domain |
Domain | IPR002314 | Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) |
Domain | IPR004154 | Anticodon-binding |
Domain | IPR006195 | Aminoacyl-tRNA synthetase, class II |
Domain | IPR033731 | Glycyl-tRNA synthetase-like core domain |
Family | IPR002315 | Glycyl-tRNA synthetase |
Family | IPR027031 | Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2 |
Homologous_superfamily | IPR009068 | uS15/NS1, RNA-binding domain superfamily |
Homologous_superfamily | IPR036621 | Anticodon-binding domain superfamily |
Homologous_superfamily | IPR045864 | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) |
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 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available