CARS1: Cysteinyl-tRNA Synthetase 1
A key enzyme in protein synthesis, implicated in autoimmune and neurological disorders
Gene Information Card
| Symbol | CARS1 |
|---|---|
| Full Name | cysteinyl-tRNA synthetase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 833 ncbi.nlm.nih.gov/gene/833 |
| Ensembl ID | ENSG00000110619 |
| UniProt ID | P49589 |
| OMIM ID | 123859 |
| HGNC ID | 1493 |
| Aliases | CARS, CysRS, MGC:11246 |
Description
CARS1 encodes cysteinyl-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. This enzyme catalyzes the attachment of cysteine to its cognate tRNA, a critical step in protein synthesis. Beyond its canonical role, CARS1 is involved in cellular signaling and has been linked to autoimmune diseases such as myositis and interstitial lung disease, as well as neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune myositis with interstitial lung disease | Anti-CARS1 autoantibodies target the enzyme, leading to inflammatory muscle and lung damage | ClinVar, OMIM |
| Charcot-Marie-Tooth disease, axonal, type 2W | Missense mutations impair enzyme function, causing peripheral neuropathy | ClinVar, OMIM |
| Neurodevelopmental disorder with microcephaly and seizures | Biallelic loss-of-function variants disrupt protein synthesis in neurons | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 18.5 | High |
| Pancreas | 15.2 | High |
| Skeletal muscle | 12.8 | Medium |
| Brain | 10.1 | Medium |
| Lung | 8.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 20.1 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 14.3 | Neuroblastoma cell line |
| A549 | 11.7 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1210C>T (p.Arg404Trp) | Missense | Rare | Impaired catalytic activity; associated with Charcot-Marie-Tooth disease |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression; linked to neurodevelopmental disorder |
| c.1672G>A (p.Gly558Arg) | Missense | Unknown | Reduced tRNA charging; reported in autoimmune myositis |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (e.g., start loss, nonsense) cause severe neurodevelopmental phenotypes due to insufficient cysteinyl-tRNA charging.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CARS1.
Dominant Negative (DN)
Heterozygous missense mutations (e.g., p.Arg404Trp) may exert dominant-negative effects by disrupting dimerization or catalytic efficiency.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-tRNA ligase activity | • ATP binding |
| • tRNA aminoacylation for protein translation | • cytoplasm |
| • aminoacyl-tRNA synthetase multienzyme complex |
Pathways
• Aminoacyl-tRNA biosynthesis (KEGG: hsa00970)
• Cytoplasmic tRNA aminoacylation (Reactome: R-HSA-379716)
Protein Summary
CARS1 is a 748-amino acid cytoplasmic enzyme that belongs to the class I aminoacyl-tRNA synthetase family. It forms a homodimer and catalyzes the two-step ligation of cysteine to tRNA(Cys). The protein contains an N-terminal catalytic domain and a C-terminal anticodon-binding domain. Mutations in CARS1 lead to reduced aminoacylation activity, causing peripheral neuropathy or neurodevelopmental disorders. Autoantibodies against CARS1 are biomarkers for autoimmune myositis with interstitial lung disease.
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