RPUSD3
RNA Pseudouridine Synthase Domain Containing 3
Gene Information Card
| Symbol | RPUSD3 |
|---|---|
| Full Name | RNA Pseudouridine Synthase Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 285367 ncbi.nlm.nih.gov/gene/285367 |
| Ensembl ID | ENSG00000163644 |
| UniProt ID | Q6P6B7 |
| OMIM ID | 617850 |
| HGNC ID | 28117 |
| Aliases | FLJ22624, MGC26733 |
Description
RPUSD3 encodes a mitochondrial RNA pseudouridine synthase that catalyzes the isomerization of uridine to pseudouridine (Ψ) in mitochondrial ribosomal RNA and transfer RNA. This modification is critical for mitochondrial translation and respiratory chain function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain deficiency | Loss of RPUSD3 function impairs pseudouridylation of mitochondrial rRNAs, leading to defective mitochondrial translation and complex I/IV deficiency. | PMID: 31073040 |
| Combined oxidative phosphorylation deficiency | Biallelic mutations in RPUSD3 cause reduced mitochondrial translation and multiple respiratory chain enzyme defects. | ClinVar: RCV000626115 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 6.2 | Low |
| Brain | 5.1 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.3 | RNA-seq data |
| HeLa | 7.1 | RNA-seq data |
| K562 | 6.5 | RNA-seq data |
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.337C>T (p.Arg113Trp) | Missense | Rare | Impaired pseudouridine synthase activity |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in RPUSD3 cause mitochondrial translation defects and combined oxidative phosphorylation deficiency.
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) |
Pathways
• Mitochondrial tRNA pseudouridylation
• Mitochondrial rRNA modification
Protein Summary
RPUSD3 is a 299-amino acid mitochondrial protein containing a pseudouridine synthase domain. It localizes to the mitochondrial matrix and modifies specific uridine residues in mitochondrial 16S rRNA and tRNAs. Deficiency leads to impaired mitochondrial protein synthesis and respiratory chain dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPUSD3 Knockout HEK293 Cell Line | EDJ-KQ15128 | Human | 285367 | Details Get a Quote |
| RPUSD3 Knockout HCT 116 Cell Line | EDJ-KQ44486 | Human | 285367 | Details Get a Quote |
| RPUSD3 Knockout A-549 Cell Line | EDJ-KQ45723 | Human | 285367 | Details Get a Quote |
| RPUSD3 Knockout HeLa Cell Line | EDJ-KQ45724 | Human | 285367 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
