SARS1 Gene - Seryl-tRNA Synthetase 1
Comprehensive gene card for SARS1, encoding the cytosolic seryl-tRNA synthetase involved in protein synthesis and linked to autoimmune and neurological disorders.
Gene Information Card
| Symbol | SARS1 |
|---|---|
| Full Name | Seryl-tRNA Synthetase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 6301 ncbi.nlm.nih.gov/gene/6301 |
| Ensembl ID | ENSG00000131668 |
| UniProt ID | P49591 |
| OMIM ID | 607529 |
| HGNC ID | 10537 |
| Aliases | SERS, SERRS, SerRS, SYS1 |
Description
SARS1 encodes the cytosolic seryl-tRNA synthetase, a class II aminoacyl-tRNA synthetase that catalyzes the attachment of serine to its cognate tRNA (tRNA-Ser). This enzyme is essential for protein synthesis and is also implicated in non-canonical functions, including angiogenesis and immune regulation. Autoantibodies against SARS1 are associated with autoimmune diseases such as dermatomyositis and interstitial lung disease. Genetic variants in SARS1 have been linked to neurological phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dermatomyositis-associated interstitial lung disease | Autoantibodies against SARS1 (anti-SerRS) target the enzyme, contributing to immune-mediated tissue damage. | PMID: 23307896; ClinVar |
| Autoimmune myositis | Anti-SARS1 autoantibodies are a biomarker for antisynthetase syndrome. | PMID: 23307896; OMIM 607529 |
| Neurodevelopmental disorder with microcephaly and spasticity | Biallelic loss-of-function variants in SARS1 impair protein synthesis, leading to neurological deficits. | PMID: 31474318; ClinVar |
| Charcot-Marie-Tooth disease (axonal) | Heterozygous dominant-negative mutations in SARS1 disrupt tRNA charging and cause peripheral neuropathy. | PMID: 31474318; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 25.4 | Medium |
| Heart | 18.7 | Medium |
| Liver | 15.2 | Medium |
| Lung | 12.1 | Medium |
| Skeletal muscle | 10.5 | Low |
| Pancreas | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 35.2 | High expression |
| HeLa | 28.6 | High expression |
| HepG2 | 22.1 | Medium expression |
| K562 | 15.4 | Medium expression |
| SH-SY5Y | 12.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1160A>G (p.Tyr387Cys) | Missense | <0.01% (gnomAD) | Dominant-negative; associated with Charcot-Marie-Tooth disease |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Loss of function; associated with neurodevelopmental disorder |
| c.1342C>T (p.Arg448Trp) | Missense | <0.01% | Likely loss of function; reported in neurodevelopmental cases |
| c.1675G>A (p.Gly559Arg) | Missense | <0.01% | Dominant-negative; peripheral neuropathy |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants (e.g., start loss, nonsense) cause neurodevelopmental disorder with microcephaly and spasticity.
Gain of Function (GOF)
No gain-of-function mutations reported for SARS1.
Dominant Negative (DN)
Heterozygous missense mutations (e.g., p.Tyr387Cys, p.Gly559Arg) act as dominant-negative, impairing tRNA charging and causing axonal Charcot-Marie-Tooth disease.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Aminoacyl-tRNA biosynthesis (KEGG: hsa00970)
• tRNA processing (Reactome: R-HSA-379716)
Protein Summary
SARS1 encodes a 514-amino acid protein (Seryl-tRNA synthetase, SerRS) that belongs to the class II aminoacyl-tRNA synthetase family. The enzyme forms a homodimer and catalyzes the two-step reaction: activation of serine by ATP to form seryl-AMP, followed by transfer of serine to the 3' end of tRNA-Ser. Beyond translation, SerRS has non-canonical roles in vascular development and immune signaling. Mutations in SARS1 cause either dominant-negative peripheral neuropathy or recessive neurodevelopmental disorders.
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