RPUSD1: RNA Pseudouridine Synthase Domain Containing 1
A mitochondrial pseudouridine synthase involved in RNA modification and mitochondrial function.
Gene Information Card
| Symbol | RPUSD1 |
|---|---|
| Full Name | RNA Pseudouridine Synthase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 113000 ncbi.nlm.nih.gov/gene/113000 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q9BRS2 |
| OMIM ID | 617541 |
| HGNC ID | 28726 |
| Aliases | FLJ22662, MGC13170, dJ402H5.2 |
Description
RPUSD1 encodes a mitochondrial pseudouridine synthase that catalyzes the isomerization of uridine to pseudouridine (Ψ) in mitochondrial RNA. This modification is critical for mitochondrial ribosome assembly and translation. The protein localizes to mitochondria and is essential for oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain deficiency | Loss of RPUSD1 function impairs pseudouridylation of mitochondrial 16S rRNA, leading to defective mitochondrial translation and respiratory chain complex assembly. | PMID: 28431233 |
| Combined oxidative phosphorylation deficiency | Biallelic RPUSD1 variants cause a mitochondrial disorder with reduced complex I and IV activity. | ClinVar: RCV000626498 |
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 | Moderate expression |
| HEK293 | 8.7 | Moderate expression |
| K562 | 5.1 | Low expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/Start loss | Rare | Loss of translation initiation, likely null allele |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Impaired catalytic activity |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants cause mitochondrial respiratory chain deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • pseudouridine synthase activity | • RNA binding |
| • mitochondrion | • mitochondrial large ribosomal subunit |
| • pseudouridine synthesis | • rRNA processing |
| • mitochondrial translation |
Pathways
• Mitochondrial RNA modification
• Mitochondrial translation
• Oxidative phosphorylation
Protein Summary
RPUSD1 is a 331-amino acid mitochondrial protein containing a pseudouridine synthase domain (PUA-like). It specifically modifies U1399 in mitochondrial 16S rRNA, a modification essential for ribosome assembly and function. The protein is ubiquitously expressed with highest levels in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPUSD1 Knockout HEK293 Cell Line | EDJ-KQ7406 | Human | 113000 | Details Get a Quote |
| RPUSD1 Knockout A-549 Cell Line | EDJ-KQ31204 | Human | 113000 | Details Get a Quote |
| RPUSD1 Knockout HCT 116 Cell Line | EDJ-KQ32574 | Human | 113000 | Details Get a Quote |
| RPUSD1 Knockout HeLa Cell Line | EDJ-KQ32575 | Human | 113000 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
