PUS1: Pseudouridine Synthase 1
A key enzyme in RNA pseudouridylation, associated with mitochondrial myopathy and sideroblastic anemia (MLASA).
Gene Information Card
| Symbol | PUS1 |
|---|---|
| Full Name | Pseudouridine Synthase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 80324 ncbi.nlm.nih.gov/gene/80324 |
| Ensembl ID | ENSG00000177192 |
| UniProt ID | Q9Y606 |
| OMIM ID | 608109 |
| HGNC ID | 30083 |
| Aliases | MLASA1, RPUSD1, PUS1-1 |
Description
The PUS1 gene encodes pseudouridine synthase 1, an enzyme that catalyzes the isomerization of uridine to pseudouridine (Ψ) in RNA molecules. This modification is critical for the structural stability and function of tRNAs, rRNAs, and other non-coding RNAs. PUS1 is localized to both the nucleus and mitochondria, where it modifies mitochondrial tRNAs. Mutations in PUS1 cause mitochondrial myopathy and sideroblastic anemia (MLASA), an autosomal recessive disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial myopathy and sideroblastic anemia (MLASA) | Defective pseudouridylation of mitochondrial tRNAs leads to impaired mitochondrial protein synthesis and respiratory chain dysfunction. | ClinVar, OMIM |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | Same mechanism as MLASA; PUS1 mutations disrupt mitochondrial tRNA modification. | OMIM #600462 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 6.7 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.3 | Cervical carcinoma |
| HEK293 | 8.5 | Embryonic kidney |
| K562 | 7.8 | Leukemia |
| HepG2 | 6.9 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.656C>T (p.Thr219Ile) | Missense | Rare | Loss of pseudouridine synthase activity; associated with MLASA |
| c.430G>A (p.Gly144Arg) | Missense | Rare | Impaired mitochondrial tRNA modification; pathogenic in MLASA |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein function; severe MLASA phenotype |
Mutation functional classification
Loss of Function (LOF)
Most PUS1 mutations are loss-of-function, reducing or abolishing pseudouridine synthase activity, leading to defective mitochondrial tRNA modification.
Gain of Function (GOF)
No gain-of-function mutations reported for PUS1.
Dominant Negative (DN)
No dominant-negative effects described; MLASA is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • pseudouridine synthesis (GO:0001522) | • RNA binding (GO:0003723) |
| • mitochondrion (GO:0005739) | • nucleus (GO:0005634) |
| • pseudouridine synthase activity (GO:0009982) |
Pathways
• tRNA processing and modification
• Mitochondrial translation
• RNA pseudouridylation
Protein Summary
Pseudouridine synthase 1 (PUS1) is a 427-amino acid enzyme that catalyzes the conversion of uridine to pseudouridine in RNA. It contains a conserved pseudouridine synthase domain and is active in both the nucleus and mitochondria. The protein is essential for proper mitochondrial tRNA function; defects lead to impaired mitochondrial protein synthesis and energy production, manifesting as myopathy and anemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PUS1 Knockout HEK293 Cell Line | EDJ-KQ1951 | Human | 80324 | Details Get a Quote |
| PUS10 Knockout HEK293 Cell Line | EDJ-KQ11316 | Human | 150962 | Details Get a Quote |
| PUS1 Knockout HeLa Cell Line | EDJ-KQ18329 | Human | 80324 | Details Get a Quote |
| PUS1 Knockout HCT 116 Cell Line | EDJ-KQ20606 | Human | 80324 | Details Get a Quote |
| PUS1 Knockout A-549 Cell Line | EDJ-KQ21899 | Human | 80324 | Details Get a Quote |
| PUS10 Knockout A-549 Cell Line | EDJ-KQ39456 | Human | 150962 | Details Get a Quote |
| PUS10 Knockout HCT 116 Cell Line | EDJ-KQ39457 | Human | 150962 | Details Get a Quote |
| PUS10 Knockout HeLa Cell Line | EDJ-KQ39458 | Human | 150962 | Details Get a Quote |
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