RARS1
Arginyl-tRNA Synthetase 1
Gene Information Card
| Symbol | RARS1 |
|---|---|
| Full Name | Arginyl-tRNA Synthetase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q34 |
| NCBI Gene ID | 5917 ncbi.nlm.nih.gov/gene/5917 |
| Ensembl ID | ENSG00000113643 |
| UniProt ID | P54136 |
| OMIM ID | 107820 |
| HGNC ID | 9870 |
| Aliases | ArgRS, DALRD1, RARS |
Description
The RARS1 gene encodes arginyl-tRNA synthetase 1, a cytoplasmic enzyme that catalyzes the attachment of arginine to its cognate tRNA (tRNA-Arg) during protein synthesis. This aminoacylation reaction is essential for accurate translation of genetic information. Mutations in RARS1 are associated with autosomal recessive hypomyelinating leukodystrophy and other neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypomyelinating leukodystrophy 9 (HLD9) | Loss-of-function mutations impair arginine charging, leading to defective protein synthesis and myelin formation | ClinVar, OMIM |
| Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) | RARS1 variants disrupt mitochondrial translation and energy metabolism | ClinVar |
| Neurodevelopmental disorder with microcephaly and spasticity | Biallelic missense mutations reduce enzyme activity, affecting neuronal development | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
| Skeletal muscle | 6.9 | Low |
| Kidney | 9.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.8 | Moderate expression |
| SH-SY5Y | 10.5 | Moderate expression |
| HepG2 | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.5A>G (p.Asp2Gly) | Missense | Rare | Reduced catalytic activity |
| c.986G>A (p.Arg329His) | Missense | Rare | Impaired tRNA binding |
| c.1354C>T (p.Arg452Trp) | Missense | Rare | Loss of function |
| c.1672G>A (p.Glu558Lys) | Missense | Rare | Decreased stability |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic RARS1 mutations result in partial or complete loss of arginyl-tRNA synthetase activity, leading to impaired protein synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RARS1.
Dominant Negative (DN)
No dominant-negative effects have been described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • arginine-tRNA ligase activity | • ATP binding |
| • tRNA binding | • protein biosynthesis |
| • cytoplasm |
Pathways
• Aminoacyl-tRNA biosynthesis (KEGG: hsa00970)
• Cytoplasmic translation (Reactome: R-HSA-72766)
Protein Summary
Arginyl-tRNA synthetase 1 is a class I aminoacyl-tRNA synthetase that specifically charges tRNA-Arg with arginine. The enzyme is a monomeric protein localized in the cytoplasm and is essential for translation elongation. It contains a catalytic domain and an anticodon-binding domain. Defects in this enzyme cause neurological diseases due to impaired protein synthesis in the central nervous system.
Related Services
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