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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TRUB1
TruB pseudouridine synthase family member 1
Chromosome 10 · 10q25.3
NCBI Gene: 142940Ensembl: ENSG00000165832.7HGNC: HGNC:16060UniProt: Q8WWH5
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA pseudouridine synthesispositive regulation of pre-miRNA processingnucleusmitochondrioncervical carcinomaglomerulonephritisAlzheimer diseasecolorectal carcinoma
✦AI Summary

TRUB1 is a pseudouridine synthase that catalyzes pseudouridylation of both mRNAs and tRNAs in humans 123. As the major mRNA pseudouridine synthase, TRUB1 recognizes mRNAs with the consensus sequence 5'-GUUCNANNC-3' containing stem-loop structures 12. Quantitative mapping reveals TRUB1 targets exhibit the highest modification stoichiometry among pseudouridine synthases 4. In mitochondria, TRUB1 catalyzes pseudouridine(55) synthesis in a subset of tRNAs (tRNAAsn, tRNAGln, tRNAGlu, tRNAPro), with deficiency impairing mitochondrial translation and oxidative phosphorylation biogenesis 5. Additionally, TRUB1 regulates microRNA maturation independently of its synthase activity by binding pri-let-7 stem-loops and preventing LIN28 binding, thereby enhancing DGCR8-mediated let-7 processing 36. Recent evidence indicates TRUB1-installed pseudouridine sites promote mRNA transcript stabilization 7. TRUB1 and PUS10 exhibit functional redundancy for cytosolic tRNA Ψ55 modification 8. Clinically, low TRUB1 expression correlates with poor glioblastoma prognosis 9.

Sources cited
1
TRUB1 catalyzes pseudouridylation of mRNAs with consensus sequence 5'-GUUCNANNC-3' containing stem-loop structures and constitutes the major mRNA pseudouridine synthase
PMID: 28073919
2
TRUB1 mediates pseudouridylation of mRNAs with consensus sequence 5'-GUUCNANNC-3' and stem-loop structures
PMID: 31477916
3
TRUB1 catalyzes tRNA pseudouridylation and promotes pri-let-7 processing by preventing LIN28 binding and enhancing DGCR8 interaction
PMID: 32926445
4
TRUB1 catalyzes pseudouridine(55) modification in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro; deficiency impairs mitochondrial translation and oxidative phosphorylation biogenesis
PMID: 36018806
5
TRUB1 targets show the highest modification stoichiometry among pseudouridine synthases in quantitative transcriptome-wide pseudouridylation profiling
PMID: 36997645
6
TRUB1-installed pseudouridine sites promote transcript stabilization in mammalian mRNA
PMID: 36302989
7
TRUB1 binds specifically to pri-let-7 terminal loops and facilitates let-7 maturation through structural interaction
PMID: 38776834
8
Low TRUB1 expression is associated with poor glioblastoma prognosis
PMID: 35111402
9
TRUB1 and PUS10 function redundantly to catalyze Ψ55 modification in cytosolic tRNAs
PMID: 41136621
Disease Associationsⓘ20
cervical carcinomaOpen Targets
0.14Weak
glomerulonephritisOpen Targets
0.13Weak
Alzheimer diseaseOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.05Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.04Suggestive
IRIDA syndromeOpen Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
essential thrombocythemiaOpen Targets
0.04Suggestive
Rh deficiency syndromeOpen Targets
0.04Suggestive
elliptocytosis 2Open Targets
0.04Suggestive
cryohydrocytosisOpen Targets
0.04Suggestive
Hereditary cryohydrocytosis with normal stomatinOpen Targets
0.04Suggestive
amegakaryocytic thrombocytopenia, congenital, 2Open Targets
0.04Suggestive
familial pseudohyperkalemiaOpen Targets
0.04Suggestive
hereditary spherocytosis type 4Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNU13Protein interaction100%NOP56Protein interaction100%NOP58Protein interaction100%KRR1Protein interaction99%BOP1Protein interaction96%RSL1D1Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Brain
66%
Ovary
31%
Bone Marrow
29%
Liver
27%
Lung
12%
Gene Interaction Network
Click a node to explore
TRUB1SNU13NOP56NOP58KRR1BOP1RSL1D1
PROTEIN STRUCTURE
Preparing viewer…
PDB8JFX · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.40–1.01]
RankingsWhere TRUB1 stands among ~20K protein-coding genes
  • #10,563of 20,598
    Most Researched38
  • #9,846of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedTRUB1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Quantitative profiling of pseudouridylation landscape in the human transcriptome.
PMID: 36997645
Nat Chem Biol · 2023
1.00
2
Human TRUB1 is a highly conserved pseudouridine synthase responsible for the formation of Ψ55 in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro.
PMID: 36018806
Nucleic Acids Res · 2022
0.90
3
Quantitative sequencing using BID-seq uncovers abundant pseudouridines in mammalian mRNA at base resolution.
PMID: 36302989
Nat Biotechnol · 2023
0.80
4
Absolute quantitative and base-resolution sequencing reveals comprehensive landscape of pseudouridine across the human transcriptome.
PMID: 39349603
Nat Methods · 2024
0.70
5
The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1.
PMID: 12736709
Int J Mol Med · 2003
0.60