AARS1 Gene - Alanyl-tRNA Synthetase 1
Essential enzyme for protein synthesis and its role in Charcot-Marie-Tooth disease and other disorders
Gene Information Card
| Symbol | AARS1 |
|---|---|
| Full Name | Alanyl-tRNA Synthetase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 16 ncbi.nlm.nih.gov/gene/16 |
| Ensembl ID | ENSG00000090861 |
| UniProt ID | P49588 |
| OMIM ID | 601065 |
| HGNC ID | 20 |
| Aliases | AARS, AlaRS, CMT2N, EIEE29 |
Description
The AARS1 gene encodes alanyl-tRNA synthetase 1, a class II aminoacyl-tRNA synthetase that catalyzes the attachment of alanine to its cognate tRNA. This enzyme is essential for accurate protein synthesis. Mutations in AARS1 are associated with Charcot-Marie-Tooth disease type 2N (CMT2N) and early infantile epileptic encephalopathy 29 (EIEE29).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 2N | Missense mutations impair aminoacylation activity, leading to peripheral neuropathy | ClinVar, OMIM |
| Early infantile epileptic encephalopathy 29 | Loss-of-function mutations disrupt protein synthesis in neurons | ClinVar, OMIM |
| Leukodystrophy, hypomyelinating, 16 | Biallelic mutations cause severe neurological deterioration | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 14.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 18.5 | High |
| Kidney | 15.1 | Medium |
| Testis | 20.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 16.7 | High expression |
| HeLa | 14.5 | Medium expression |
| K562 | 12.3 | Medium expression |
| SH-SY5Y | 15.9 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.986G>A (p.Arg329His) | Missense | Rare | Impaired tRNA charging; associated with CMT2N |
| c.1286C>T (p.Thr429Ile) | Missense | Rare | Reduced enzyme activity; linked to EIEE29 |
| c.2087A>G (p.Asn696Ser) | Missense | Rare | Dominant negative effect; CMT2N |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause severe neurological phenotypes such as EIEE29 and hypomyelinating leukodystrophy.
Gain of Function (GOF)
No gain-of-function mutations have been reported for AARS1.
Dominant Negative (DN)
Heterozygous missense mutations (e.g., p.Arg329His) exert dominant negative effects, leading to CMT2N.
View complete mutation data：
Gene Ontology (GO)
| • alanyl-tRNA aminoacylation | • ATP binding |
| • tRNA binding | • cytoplasm |
| • protein biosynthesis |
Pathways
• Aminoacyl-tRNA biosynthesis (KEGG: hsa00970)
• tRNA processing
Protein Summary
Alanyl-tRNA synthetase 1 is a 968-amino-acid cytoplasmic enzyme that ligates alanine to tRNA-Ala. It contains an N-terminal catalytic domain and a C-terminal editing domain that ensures fidelity. The protein is ubiquitously expressed and essential for translation.
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