Gene
kars1
- ID
- ZDB-GENE-021115-8
- Name
- lysyl-tRNA synthetase 1
- Symbol
- kars1 Nomenclature History
- Previous Names
-
- kars
- cb530 (1)
- wu:fa16h02
- zgc:92483
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have ATP adenylyltransferase activity; lysine-tRNA ligase activity; and tRNA binding activity. Predicted to be involved in several processes, including diadenosine tetraphosphate biosynthetic process; lysyl-tRNA aminoacylation; and positive regulation of macrophage activation. Predicted to localize to several cellular components, including aminoacyl-tRNA synthetase multienzyme complex; extracellular space; and mitochondrion. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate B and autosomal recessive nonsyndromic deafness 89. Is expressed in several structures, including alar plate midbrain region; immature eye; musculature system; nervous system; and segmental plate. Orthologous to human KARS1 (lysyl-tRNA synthetase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb530 (18 images)
- IMAGE:7163904 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 89 | Alliance | Deafness, autosomal recessive 89 | 613916 |
| Charcot-Marie-Tooth disease recessive intermediate B | Alliance | ?Charcot-Marie-Tooth disease, recessive intermediate, B | 613641 |
| Deafness, congenital, and adult-onset progressive leukoencephalopathy | 619196 | ||
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 619147 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004364 | Aminoacyl-tRNA synthetase, class II (D/K/N) |
| Domain | IPR004365 | OB-fold nucleic acid binding domain, AA-tRNA synthetase-type |
| Domain | IPR006195 | Aminoacyl-tRNA synthetase, class II |
| Domain | IPR018149 | Lysyl-tRNA synthetase, class II, C-terminal |
| Domain | IPR044136 | Lysine-tRNA ligase, class II, N-terminal |
| Family | IPR002313 | Lysine-tRNA ligase, class II |
| Family | IPR034762 | Bacterial/eukaryotic lysine-tRNA ligase, class II |
| Homologous_superfamily | IPR012340 | Nucleic acid-binding, OB-fold |
| 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 | Aminoacyl-tRNA synthetase, class II (D/K/N) | Bacterial/eukaryotic lysine-tRNA ligase, class II | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) | Lysine-tRNA ligase, class II | Lysine-tRNA ligase, class II, N-terminal | Lysyl-tRNA synthetase, class II, C-terminal | Nucleic acid-binding, OB-fold | OB-fold nucleic acid binding domain, AA-tRNA synthetase-type |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6DHE6
|
602 | |||||||||
|
UniProtKB:A0A0R4IC11
|
577 |
Interactions and Pathways
No data available
Plasmids
No data available