FARSA
Phenylalanyl-tRNA Synthetase Subunit Alpha
Gene Information Card
| Symbol | FARSA |
|---|---|
| Full Name | Phenylalanyl-tRNA Synthetase Subunit Alpha |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.13 |
| NCBI Gene ID | 2193 ncbi.nlm.nih.gov/gene/2193 |
| Ensembl ID | ENSG00000179115 |
| UniProt ID | Q9Y285 |
| OMIM ID | 602918 |
| HGNC ID | 3592 |
| Aliases | FARS, FARSLA, PheRS, CML33 |
Description
FARSA encodes the alpha subunit of the cytoplasmic phenylalanyl-tRNA synthetase, an enzyme that catalyzes the attachment of phenylalanine to its cognate tRNA. This aminoacylation is essential for accurate protein translation. Mutations in FARSA are associated with neurodegenerative disorders and multiple congenital anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration, childhood-onset, with multisystem involvement | Loss-of-function mutations impair tRNA charging, leading to defective protein synthesis and neuronal dysfunction | ClinVar, OMIM #619013 |
| Spastic paraplegia, intellectual disability, and peripheral neuropathy | Biallelic missense variants reduce enzyme activity, affecting translation in neural tissues | ClinVar, PubMed |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | Homozygous or compound heterozygous mutations disrupt phenylalanyl-tRNA synthetase function | OMIM #619013 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 35.2 | Medium |
| Heart | 28.1 | Medium |
| Liver | 22.5 | Medium |
| Skeletal muscle | 18.9 | Low |
| Kidney | 15.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 42.1 | Embryonic kidney, high expression |
| SH-SY5Y | 38.7 | Neuroblastoma, relevant to disease |
| HeLa | 30.5 | Cervical carcinoma |
| HepG2 | 25.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.986G>A (p.Arg329His) | Missense | Rare | Reduced catalytic activity; associated with neurodegeneration |
| c.1124T>C (p.Leu375Pro) | Missense | Rare | Disrupts protein stability; linked to spastic paraplegia |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of function; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Biallelic missense or truncating mutations reduce or abolish aminoacylation activity, leading to impaired translation and neurodegeneration.
Gain of Function (GOF)
Not reported for FARSA.
Dominant Negative (DN)
Not reported; all known pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • aminoacyl-tRNA ligase activity (GO:0004812) | • ATP binding (GO:0005524) |
| • phenylalanyl-tRNA aminoacylation (GO:0006432) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Aminoacyl-tRNA biosynthesis (KEGG: hsa00970)
• tRNA charging (Reactome: R-HSA-379716)
Protein Summary
FARSA encodes the alpha subunit of cytoplasmic phenylalanyl-tRNA synthetase (PheRS), a tetrameric enzyme composed of two alpha and two beta subunits. The alpha subunit is responsible for binding phenylalanine and ATP, while the beta subunit binds tRNA. The enzyme catalyzes the two-step aminoacylation reaction: activation of phenylalanine by ATP to form Phe-AMP, followed by transfer to tRNA(Phe). Defects in FARSA cause a spectrum of neurological and multisystem disorders due to impaired protein synthesis.
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