TARS1 Gene: Threonyl-tRNA Synthetase 1
Essential enzyme for protein synthesis and a target in autoimmune and neurodegenerative disorders
Gene Information Card
| Symbol | TARS1 |
|---|---|
| Full Name | Threonyl-tRNA Synthetase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p13.3 |
| NCBI Gene ID | 6897 ncbi.nlm.nih.gov/gene/6897 |
| Ensembl ID | ENSG00000113492 |
| UniProt ID | P26639 |
| OMIM ID | 187790 |
| HGNC ID | 11572 |
| Aliases | TARS, ThrRS, MGC9344 |
Description
TARS1 encodes threonyl-tRNA synthetase, a cytoplasmic enzyme that catalyzes the attachment of threonine to its cognate tRNA during protein synthesis. It belongs to the class II aminoacyl-tRNA synthetase family. Mutations in TARS1 are associated with Charcot-Marie-Tooth disease type 2N and other peripheral neuropathies. The protein is also a target of autoantibodies in certain autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 2N | Missense mutations impair enzyme activity, leading to reduced aminoacylation and defective protein synthesis in neurons | OMIM #613287, ClinVar |
| Autoantibody-associated interstitial lung disease | Autoantibodies against TARS1 (anti-threonyl-tRNA synthetase) are found in patients with antisynthetase syndrome | UniProt, NCBI |
| Peripheral neuropathy (unspecified) | Heterozygous variants in TARS1 cause axonal neuropathy with variable severity | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 18.5 | Medium |
| Kidney | 14.1 | Medium |
| Testis | 22.3 | High |
| Pancreas | 10.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 19.4 | Embryonic kidney cells |
| HeLa | 16.7 | Cervical cancer cells |
| K562 | 21.0 | Leukemia cells |
| SH-SY5Y | 14.5 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.988G>A (p.Gly330Arg) | Missense | Rare | Reduced catalytic activity; associated with CMT2N |
| c.1157C>T (p.Thr386Met) | Missense | Rare | Impaired tRNA binding; neuropathy phenotype |
| c.1445G>A (p.Arg482His) | Missense | Rare | Decreased stability; reported in peripheral neuropathy |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce aminoacylation activity, leading to defective protein synthesis and neuronal dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Heterozygous mutations may exert dominant-negative effects by interfering with dimerization or tRNA binding.
View complete mutation data：
Gene Ontology (GO)
| • threonine-tRNA ligase activity (GO:0004812) | • ATP binding (GO:0005524) |
| • threonyl-tRNA aminoacylation (GO:0006435) | • cytoplasm (GO:0005737) |
Pathways
• Aminoacyl-tRNA biosynthesis (KEGG: hsa00970)
• tRNA processing (Reactome: R-HSA-379716)
Protein Summary
Threonyl-tRNA synthetase (ThrRS) is a homodimeric enzyme that charges tRNA(Thr) with threonine in an ATP-dependent manner. It contains an N-terminal editing domain that hydrolyzes mischarged serine-tRNA(Thr), ensuring translational fidelity. The protein is ubiquitously expressed and essential for cell viability. Mutations in TARS1 cause Charcot-Marie-Tooth disease type 2N, a progressive axonal neuropathy.
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