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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RPUSD4
RNA pseudouridine synthase D4
Chromosome 11 · 11q24.2
NCBI Gene: 84881Ensembl: ENSG00000165526.10HGNC: HGNC:25898UniProt: B4DUN4
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tRNA bindingRNA bindingprotein bindingpseudouridine synthase activityneurodegenerative diseasealcohol drinkingThrombocytopeniaabnormal chest sounds
✦AI Summary

RPUSD4 (RNA pseudouridine synthase D4) is a mitochondrial enzyme that catalyzes pseudouridylation, the conversion of uridine to pseudouridine in RNA substrates 1. Its primary function involves modifying position 1397 in 16S mitochondrial ribosomal RNA (16S mt-rRNA), a modification essential for 16S mt-rRNA stability and assembly into functional mitochondrial ribosomes 1. RPUSD4 also pseudouridylates position 39 in mitochondrial tRNA(Phe) 2. As part of a conserved protein-RNA module with RCC1L, NGRN, RPUSD3, TRUB2, and FASTKD2, RPUSD4 controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation and oxidative phosphorylation 3. Beyond mitochondrial functions, RPUSD4 regulates nuclear pre-mRNA splicing and 3'-end processing by mediating pseudouridylation near splice sites and alternatively spliced regions, thereby controlling widespread changes in alternative pre-mRNA processing 4. RPUSD4 depletion causes severe mitochondrial translation defects and oxidative phosphorylation assembly failures 1. Dysregulated RPUSD4 expression correlates with immune infiltration in osteoarthritis 5, and the gene serves as a hub in disease networks affecting mitochondrial protein synthesis 6. These findings establish RPUSD4 as essential for both mitochondrial biogenesis and nuclear gene expression regulation.

Sources cited
1
RPUSD4 catalyzes pseudouridylation of position 1397 in 16S mt-rRNA, required for ribosome assembly and mitochondrial protein synthesis
PMID: 27974379
2
RPUSD4 pseudouridylates position 39 in mitochondrial tRNA(Phe) and is essential for 16S mt-rRNA steady-state levels
PMID: 28082677
3
RPUSD4 is part of a functional module (RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2) required for 16S mt-rRNA regulation and intra-mitochondrial translation
PMID: 27667664
4
RPUSD4 catalyzes pseudouridylation of pre-mRNAs near splice sites and regulates alternative pre-mRNA splicing and 3'-end processing
PMID: 35051350
5
RPUSD4 expression is downregulated in osteoarthritis and correlates with immune cell infiltration
PMID: 37006267
6
RPUSD4 is a hub dark genome gene enriched for mitochondrial protein synthesis roles and central to disease networks
PMID: 41724774
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.24Weak
alcohol drinkingOpen Targets
0.06Suggestive
ThrombocytopeniaOpen Targets
0.05Suggestive
abnormal chest soundsOpen Targets
0.04Suggestive
mouth diseaseOpen Targets
0.03Suggestive
sialadenitisOpen Targets
0.02Suggestive
spermatoceleOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
prostate adenocarcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
cervical squamous cell carcinomaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
SepsisOpen Targets
0.00Suggestive
genetic disorderOpen Targets
0.00Suggestive
glioblastomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MALSU1Protein interaction99%MTG2Protein interaction96%MRPL11Protein interaction95%MRPL21Protein interaction92%MRPL3Protein interaction90%MRPL24Protein interaction89%
Tissue Expression6 tissues
Heart
100%
Liver
87%
Ovary
86%
Lung
60%
Brain
49%
Bone Marrow
45%
Gene Interaction Network
Click a node to explore
RPUSD4MALSU1MTG2MRPL11MRPL21MRPL3MRPL24
PROTEIN STRUCTURE
Preparing viewer…
PDB5UBA · 1.54 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.75–1.30]
RankingsWhere RPUSD4 stands among ~20K protein-coding genes
  • #11,057of 20,598
    Most Researched35
  • #13,673of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedRPUSD4
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing.
PMID: 35051350
Mol Cell · 2022
1.00
2
A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation.
PMID: 27667664
Cell Metab · 2016
0.88
3
RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases.
PMID: 32735630
PLoS Genet · 2020
0.75
4
A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability.
PMID: 27974379
EMBO Rep · 2017
0.63
5
Expression patterns of eight RNA-modified regulators correlating with immune infiltrates during the progression of osteoarthritis.
PMID: 37006267
Front Immunol · 2023
0.50