HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PUS7L
pseudouridine synthase 7 like
Chromosome 12 · 12q12
NCBI Gene: 83448Ensembl: ENSG00000129317.16HGNC: HGNC:25276UniProt: Q9H0K6
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA pseudouridine synthesispseudouridine synthase activityprotein bindingnucleusgram-positive bacterial infectionsimmunodeficiency 67Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencypericarditis
✦AI Summary

PUS7L (pseudouridine synthase 7 like) is a pseudouridine synthase that catalyzes pseudouridylation of mRNAs and tRNAs. It functions as a stand-alone PUS enzyme that introduces pseudouridine (Ψ) modifications at specific sites in human tRNAs during pre-tRNA processing 1. The enzyme localizes to the nucleus where it performs pseudouridine synthesis activity [annotation supported by GO terms]. Regarding disease relevance, PUS7L has been implicated in several pathological conditions. In sepsis, elevated PUS7L phosphopeptides and increased precursor intensity were detected in plasma samples from ICU-sepsis patients compared to controls 2. In colorectal cancer, PUS7L expression levels correlate with significant differences in pseudouridine distribution between tumor and normal tissues, with distinct Ψ levels in snoRNAs serving as potential tumor biomarkers 3. Additionally, rare variants in PUS7L were associated with age-related hearing loss in a large genetic association study 4. Clinically, PUS7L represents a potential therapeutic target and biomarker in cancer and age-related conditions. The identification of specific RNA targets modified by PUS7L 1 provides mechanistic insights into how pseudouridine modifications contribute to disease pathogenesis, though functional studies are needed to establish causality in these disease contexts.

Sources cited
1
PUS7L is a stand-alone pseudouridine synthase that catalyzes pseudouridine modifications in human tRNAs at specific sites during pre-tRNA processing
PMID: 41136621
2
Elevated PUS7L phosphopeptides and increased precursor intensity detected in plasma from ICU-sepsis patients compared to controls
PMID: 32636717
3
PUS7L expression levels correlate with pseudouridine distribution differences between colorectal cancer tumors and normal tissues; distinct Ψ levels serve as potential tumor biomarkers
PMID: 40189490
4
Rare variants in PUS7L are associated with age-related hearing loss
PMID: 36788145
5
PUS7L interacts with AHCY protein in endosomal pathway compartments
PMID: 27455993
Disease Associationsⓘ20
gram-positive bacterial infectionsOpen Targets
0.28Weak
immunodeficiency 67Open Targets
0.18Weak
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencyOpen Targets
0.18Weak
pericarditisOpen Targets
0.09Suggestive
glaucomaOpen Targets
0.08Suggestive
ataxia telangiectasiaOpen Targets
0.04Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.03Suggestive
narcolepsyOpen Targets
0.03Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
complex regional pain syndromeOpen Targets
0.03Suggestive
glomerulonephritisOpen Targets
0.03Suggestive
septic shockOpen Targets
0.02Suggestive
kidney diseaseOpen Targets
0.02Suggestive
liver diseaseOpen Targets
0.02Suggestive
open-angle glaucomaOpen Targets
0.02Suggestive
ProptosisOpen Targets
0.02Suggestive
malignant renal pelvis neoplasmOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MRPL13Protein interaction100%MRPL21Protein interaction100%MRPL47Protein interaction100%MRPL24Protein interaction100%MRPL11Protein interaction100%RPL23Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
90%
Brain
73%
Liver
70%
Heart
68%
Lung
49%
Gene Interaction Network
Click a node to explore
PUS7LMRPL13MRPL21MRPL47MRPL24MRPL11RPL23
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H0K6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.57–1.10]
RankingsWhere PUS7L stands among ~20K protein-coding genes
  • #12,423of 20,598
    Most Researched28
  • #11,230of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedPUS7L
Sources retrieved5 papers
Response time—
📄 Sources
5
1
The plasma peptides of sepsis.
PMID: 32636717
Clin Proteomics · 2020
1.00
2
A comprehensive tRNA pseudouridine map uncovers targets dependent on human stand-alone pseudouridine synthases.
PMID: 41136621
Nat Cell Biol · 2025
0.80
3
Unveiling the clinical significance of RNA pseudouridine in colorectal cancer.
PMID: 40189490
Sci China Life Sci · 2025
0.60
4
Rare-variant association analysis reveals known and new age-related hearing loss genes.
PMID: 36788145
Eur J Hum Genet · 2023
0.40
5
Combining Unique Multiplex Gateway Cloning and Bimolecular Fluorescence Complementation (BiFC) for High-Throughput Screening of Protein-Protein Interactions.
PMID: 27455993
J Biomol Screen · 2016
0.20