TARS3
Threonyl-tRNA Synthetase 3
Gene Information Card
| Symbol | TARS3 |
|---|---|
| Full Name | Threonyl-tRNA Synthetase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.3 |
| NCBI Gene ID | 100507463 ncbi.nlm.nih.gov/gene/100507463 |
| Ensembl ID | ENSG00000204310 |
| UniProt ID | Q9BQ75 |
| OMIM ID | 617916 |
| HGNC ID | 37228 |
| Aliases | TARSL2, ThrRS-3 |
Description
TARS3 encodes threonyl-tRNA synthetase 3, 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 and is involved in translational fidelity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and spasticity | Loss-of-function mutations impair threonyl-tRNA charging, reducing translation efficiency | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Heart | 8.5 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| SH-SY5Y | 14.7 | Medium expression |
| HepG2 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250G>A (p.Arg417His) | Missense | <0.01% | Reduced catalytic activity |
| c.1876C>T (p.Arg626*) | Nonsense | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants reduce or abolish threonyl-tRNA charging activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • threonine-tRNA ligase activity (GO:0004812) | • threonyl-tRNA aminoacylation (GO:0006435) |
| • cytoplasm (GO:0005737) |
Pathways
• Aminoacyl-tRNA biosynthesis (KEGG: hsa00970)
• tRNA processing
Protein Summary
TARS3 is a 723-amino acid cytoplasmic threonyl-tRNA synthetase that ligates threonine to tRNA(Thr). It contains a catalytic domain and an anticodon-binding domain, essential for accurate translation. Mutations are linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TARS3 Knockout HEK293 Cell Line | EDJ-KQ8177 | Human | 123283 | Details Get a Quote |
| TARS3 Knockout A-549 Cell Line | EDJ-KQ34093 | Human | 123283 | Details Get a Quote |
| TARS3 Knockout HCT 116 Cell Line | EDJ-KQ34094 | Human | 123283 | Details Get a Quote |
| TARS3 Knockout HeLa Cell Line | EDJ-KQ34095 | Human | 123283 | Details Get a Quote |
