RPUSD4: RNA Pseudouridine Synthase Domain Containing 4
A mitochondrial pseudouridine synthase involved in RNA modification and mitochondrial function.
Gene Information Card
| Symbol | RPUSD4 |
|---|---|
| Full Name | RNA Pseudouridine Synthase Domain Containing 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 84881 ncbi.nlm.nih.gov/gene/84881 |
| Ensembl ID | ENSG00000165526 |
| UniProt ID | Q96N16 |
| OMIM ID | 617849 |
| HGNC ID | 28705 |
| Aliases | FLJ22624, MGC13170 |
Description
RPUSD4 encodes a mitochondrial pseudouridine synthase that catalyzes the isomerization of uridine to pseudouridine (Ψ) in RNA. It is involved in mitochondrial RNA processing and modification, particularly within the mitochondrial ribosome. The protein localizes to mitochondria and is essential for mitochondrial translation and oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency (COXPD) | Loss-of-function mutations in RPUSD4 impair mitochondrial pseudouridylation, leading to defective mitochondrial translation and respiratory chain deficiency. | ClinVar, OMIM |
| Mitochondrial encephalopathy | RPUSD4 mutations cause mitochondrial dysfunction, associated with neurological symptoms. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 6.1 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.3 | Cervical cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| K562 | 7.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | Rare | Impaired pseudouridine synthase activity |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Reduced mitochondrial translation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg109Trp, p.Gly168Arg) reduce or abolish pseudouridine synthase activity, impairing mitochondrial translation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • pseudouridine synthesis (GO:0001522) | • mitochondrion (GO:0005739) |
| • pseudouridine synthase activity (GO:0009982) | • mitochondrial translation (GO:0032543) |
| • RNA binding (GO:0003723) |
Pathways
• Mitochondrial RNA modification
• Mitochondrial translation
Protein Summary
RPUSD4 is a 341-amino acid mitochondrial protein containing a pseudouridine synthase domain. It catalyzes the conversion of uridine to pseudouridine in mitochondrial RNAs, a modification critical for ribosome assembly and function. The protein is ubiquitously expressed with higher levels in metabolically active tissues such as heart and skeletal muscle. Mutations in RPUSD4 cause mitochondrial disease phenotypes, including combined oxidative phosphorylation deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
