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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PUSL1
pseudouridine synthase like 1
Chromosome 1 · 1p36.33
NCBI Gene: 126789Ensembl: ENSG00000169972.14HGNC: HGNC:26914UniProt: Q8N0Z8
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tRNA pseudouridine synthesismitochondriontRNA pseudouridine(38-40) synthase activitymRNA pseudouridine synthesisinflammatory bowel diseaseulcerative colitisosteoarthritisHallux valgus
✦AI Summary

PUSL1 (pseudouridine synthase like 1) is a mitochondrial matrix protein with tRNA pseudouridine synthase activity that catalyzes pseudouridine (Ψ) modifications at positions 38-40 of transfer RNAs 1. Through systematic knockout experiments, PUSL1 was identified as a stand-alone pseudouridine synthase with previously unknown tRNA targets, introducing Ψ modifications at distinct stages of pre-tRNA processing 1. Beyond its canonical role in tRNA modification, PUSL1 functions as a mitochondrial-related gene with broader cellular significance. It is downregulated in Kaposi's sarcoma tissues 2 and serves as a prognostic marker in diffuse large B-cell lymphoma, where it was identified among 18 mitochondrial-related genes constructing a risk stratification model 3. PUSL1 shows protein-protein interactions with BCL2L12 in hepatocellular carcinoma, where both genes function as independent risk factors for overall survival 4. In muscle regeneration models, PUSL1 expression is significantly upregulated in response to combined natural compound treatment, supporting mitochondrial stability and cellular recovery 5. Recent environmental exposure studies demonstrate that normal-range plasma mercury levels associate with altered PUSL1 expression in skin tissue, linking PUSL1 to mitochondrial oxidative phosphorylation dysfunction 6. These findings suggest PUSL1 plays critical roles in both RNA modification and mitochondrial function with potential disease implications.

Sources cited
1
PUSL1 is a stand-alone pseudouridine synthase with tRNA targets; introduces Ψ modifications at specific pre-tRNA processing stages
PMID: 41136621
2
PUSL1 is downregulated among RNA-binding proteins in Kaposi's sarcoma tissues
PMID: 40016701
3
PUSL1 identified as one of 18 prognostic mitochondria-related genes in DLBCL risk stratification model
PMID: 39811936
4
PUSL1 interacts with BCL2L12 and functions as independent risk factor for overall survival in hepatocellular carcinoma
PMID: 41296062
5
PUSL1 expression significantly upregulated in muscle cells with combined natural compound treatment, supporting mitochondrial stability
PMID: 40900286
6
PUSL1 expression in skin tissue associates with plasma mercury levels and mitochondrial oxidative phosphorylation pathway dysfunction
PMID: 39818154
Disease Associationsⓘ20
inflammatory bowel diseaseOpen Targets
0.27Weak
ulcerative colitisOpen Targets
0.16Weak
osteoarthritisOpen Targets
0.15Weak
Hallux valgusOpen Targets
0.13Weak
HerniaOpen Targets
0.11Weak
Inguinal herniaOpen Targets
0.09Suggestive
ventral herniaOpen Targets
0.06Suggestive
ulcerative proctosigmoiditisOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
prostate adenocarcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
laryngeal squamous cell carcinomaOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
Sjogren syndromeOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PUS1Shared pathway100%MRPL17Protein interaction94%PUS3Shared pathway80%PUS7LProtein interaction78%POLR1CProtein interaction72%RPUSD2Protein interaction72%
Tissue Expression6 tissues
Liver
100%
Ovary
74%
Lung
74%
Bone Marrow
43%
Heart
38%
Brain
32%
Gene Interaction Network
Click a node to explore
PUSL1PUS1MRPL17PUS3PUS7LPOLR1CRPUSD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N0Z8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF2.06 [1.54–1.99]
RankingsWhere PUSL1 stands among ~20K protein-coding genes
  • #11,050of 20,598
    Most Researched35
  • #17,829of 17,882
    Most Constrained (LOEUF)1.99
Genes detectedPUSL1
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Exploration of RNA-binding proteins identified RPS27 as a potential regulator associated with Kaposi's sarcoma development.
PMID: 40016701
BMC Cancer · 2025
1.00
2
A comprehensive tRNA pseudouridine map uncovers targets dependent on human stand-alone pseudouridine synthases.
PMID: 41136621
Nat Cell Biol · 2025
0.83
3
A Mitochondria-Related Signature in Diffuse Large B-Cell Lymphoma: Prognosis, Immune and Therapeutic Features.
PMID: 39811936
Cancer Med · 2025
0.67
4
The oncogenic role of BCL2L12 associated with immune status in the prognosis of human hepatocellular carcinoma.
PMID: 41296062
Naturwissenschaften · 2025
0.50
5
Mitohormesis and Regeneration: Natural Compounds Chlorogenic Acid (CGA) and Isovanillic Acid 3-O-sulfate (IVAS) Boost Muscle Cell Recovery in the Equine Athlete Model.
PMID: 40900286
Stem Cell Rev Rep · 2025
0.33