EPRS1
Glutamyl-Prolyl-tRNA Synthetase 1
Gene Information Card
| Symbol | EPRS1 |
|---|---|
| Full Name | Glutamyl-Prolyl-tRNA Synthetase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 2058 ncbi.nlm.nih.gov/gene/2058 |
| Ensembl ID | ENSG00000136628 |
| UniProt ID | P07814 |
| OMIM ID | 138295 |
| HGNC ID | 3418 |
| Aliases | EPRS, QARS, PARS, GLUPRORS, PROS |
Description
EPRS1 encodes the bifunctional glutamyl-prolyl-tRNA synthetase, a member of the aminoacyl-tRNA synthetase family. This enzyme catalyzes the attachment of glutamate and proline to their respective tRNAs during protein synthesis. It is a component of the multi-tRNA synthetase complex (MSC) and plays roles in translational regulation, angiogenesis, and inflammation. Mutations in EPRS1 are associated with Charcot-Marie-Tooth disease and hypomyelinating leukodystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease, axonal, type 2C | Loss-of-function mutations impair aminoacylation activity, leading to peripheral neuropathy | ClinVar, OMIM |
| Hypomyelinating leukodystrophy 15 | Biallelic missense mutations disrupt tRNA charging and myelin formation | ClinVar, OMIM |
| Autoimmune disorders (e.g., anti-synthetase syndrome) | Autoantibodies against EPRS1 target the protein in inflammatory myopathies | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Skeletal muscle | 7.3 | Low |
| Kidney | 9.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical carcinoma |
| HEK293 | 13.2 | Embryonic kidney |
| K562 | 11.8 | Leukemia |
| HepG2 | 10.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1850G>A (p.Arg617Gln) | Missense | Rare | Impaired prolyl-tRNA synthetase activity; associated with Charcot-Marie-Tooth disease |
| c.2266C>T (p.Arg756Cys) | Missense | Rare | Reduced glutamyl-tRNA synthetase activity; linked to leukodystrophy |
| c.1234del (p.Leu412Trpfs*5) | Frameshift | Very rare | Loss of function; predicted to cause protein truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish aminoacylation activity, leading to Charcot-Marie-Tooth disease and leukodystrophy.
Gain of Function (GOF)
Not reported in EPRS1.
Dominant Negative (DN)
Not reported in EPRS1.
View complete mutation data：
Gene Ontology (GO)
| • glutamate-tRNA ligase activity | • proline-tRNA ligase activity |
| • ATP binding | • protein homodimerization activity |
| • translation | • tRNA aminoacylation for protein translation |
Pathways
• Aminoacyl-tRNA biosynthesis
• tRNA charging
• Multi-tRNA synthetase complex
Protein Summary
EPRS1 is a bifunctional enzyme (1,512 amino acids) that catalyzes the ligation of glutamate and proline to their cognate tRNAs. It contains an N-terminal glutamyl-tRNA synthetase domain and a C-terminal prolyl-tRNA synthetase domain, connected by a linker region. The protein is a core component of the multi-tRNA synthetase complex (MSC) and is involved in non-canonical functions including angiogenic signaling and inflammatory responses. Post-translational modifications include phosphorylation and sumoylation.
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