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 have ATP binding activity and methionine-tRNA ligase activity. Predicted to be involved in tRNA aminoacylation for protein translation. Predicted to localize to cytosol. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2U. Is expressed in immature eye; midbrain; and somite. 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
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 |
| Interstitial lung and liver disease | 615486 | ||
| ?Trichothiodystrophy 9, nonphotosensitive | 619692 |
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 |
| Domain | IPR041598 | Methionine--tRNA ligase, N-terminal |
| Domain | IPR041872 | Methionyl-tRNA synthetase, anticodon-binding domain |
| Family | IPR014758 | Methionyl-tRNA synthetase |
| Family | IPR023458 | Methionine-tRNA ligase, type 1 |
| Homologous_superfamily | IPR009068 | uS15/NS1, RNA-binding domain superfamily |
| Homologous_superfamily | IPR009080 | Aminoacyl-tRNA synthetase, class Ia, anticodon-binding |
| Homologous_superfamily | IPR014729 | Rossmann-like alpha/beta/alpha sandwich fold |
| Homologous_superfamily | IPR029038 | Methionyl-tRNA synthetase, Zn-domain |
| Homologous_superfamily | IPR036249 | Thioredoxin-like superfamily |
| Homologous_superfamily | IPR036282 | Glutathione S-transferase, C-terminal domain superfamily |
Domain Details Per Protein
| Protein | 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
|
922 |
Interactions and Pathways
No data available
Plasmids
No data available