Gene
aars1
- ID
- ZDB-GENE-030131-3663
- Name
- alanyl-tRNA synthetase 1
- Symbol
- aars1 Nomenclature History
- Previous Names
-
- aars
- im:7146712
- si:ch211-223o1.6
- wu:fc48h07
- zgc:113920 (1)
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable several functions, including ATP binding activity; catalytic activity, acting on a tRNA; and tRNA binding activity. Predicted to be involved in alanyl-tRNA aminoacylation and tRNA modification. Predicted to act upstream of or within tRNA aminoacylation and translation. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2N; developmental and epileptic encephalopathy 29; leukodystrophy; and trichothiodystrophy. Orthologous to human AARS1 (alanyl-tRNA synthetase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Weterman et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease axonal type 2N | Alliance | Charcot-Marie-Tooth disease, axonal, type 2N | 613287 |
| developmental and epileptic encephalopathy 29 | Alliance | Developmental and epileptic encephalopathy 29 | 616339 |
| nonphotosensitive trichothiodystrophy 8 | Alliance | Trichothiodystrophy 8, nonphotosensitive | 619691 |
| ?Leukoencephalopathy, hereditary diffuse, with spheroids 2 | 619661 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003156 | DHHA1 domain |
| Domain | IPR012947 | Threonyl/alanyl tRNA synthetase, SAD |
| Domain | IPR018164 | Alanyl-tRNA synthetase, class IIc, N-terminal |
| Domain | IPR018165 | Alanyl-tRNA synthetase, class IIc, core domain |
| Family | IPR002318 | Alanine-tRNA ligase, class IIc |
| Family | IPR023033 | Alanine-tRNA ligase, eukaryota/bacteria |
| Family | IPR050058 | Alanine--tRNA ligase |
| Homologous_superfamily | IPR009000 | Translation protein, beta-barrel domain superfamily |
| Homologous_superfamily | IPR018162 | Alanine-tRNA ligase, class IIc, anti-codon-binding domain superfamily |
| Homologous_superfamily | IPR018163 | Threonyl/alanyl tRNA synthetase, class II-like, putative editing 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 | Alanine--tRNA ligase | Alanine-tRNA ligase, class IIc | Alanine-tRNA ligase, class IIc, anti-codon-binding domain superfamily | Alanine-tRNA ligase, eukaryota/bacteria | Alanyl-tRNA synthetase, class IIc, core domain | Alanyl-tRNA synthetase, class IIc, N-terminal | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) | DHHA1 domain | Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily | Threonyl/alanyl tRNA synthetase, SAD | Translation protein, beta-barrel domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QBG7
|
433 | |||||||||||
|
UniProtKB:Q1LVL2
|
966 | |||||||||||
|
UniProtKB:Q1LVL3
|
991 |
Interactions and Pathways
No data available
Plasmids
No data available