Gene
hars
- ID
- ZDB-GENE-040912-152
- Name
- histidyl-tRNA synthetase
- Symbol
- hars Nomenclature History
- Previous Names
-
- im:7136719
- zgc:92215 (1)
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have histidine-tRNA ligase activity and identical protein binding activity. Involved in regulation of vasculature development and sprouting angiogenesis. Localizes to mitochondrion. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease, axonal type 2W; Perrault syndrome; and Usher syndrome type 3B. Orthologous to several human genes including HARS1 (histidyl-tRNA synthetase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7136719 (1 image)
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 2W | Alliance | Charcot-Marie-Tooth disease, axonal, type 2W | 616625 |
| Perrault syndrome | Alliance | Perrault syndrome 2 | 614926 |
| Usher syndrome type 3B | Alliance | Usher syndrome type 3B | 614504 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000738 | WHEP-TRS domain |
| Domain | IPR004154 | Anticodon-binding |
| Domain | IPR006195 | Aminoacyl-tRNA synthetase, class II |
| Domain | IPR033656 | Histidyl-anticodon-binding |
| Domain | IPR041715 | Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain |
| Family | IPR004516 | Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit |
| Family | IPR015807 | Histidine-tRNA ligase |
| 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 | Length | Aminoacyl-tRNA synthetase, class II | Anticodon-binding | Anticodon-binding domain superfamily | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) | Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain | Histidine-tRNA ligase | Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit | Histidyl-anticodon-binding | uS15/NS1, RNA-binding domain superfamily | WHEP-TRS domain |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E9QI36
|
513 |
Interactions and Pathways
No data available
Plasmids
No data available