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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CTU1
cytosolic thiouridylase subunit 1
Chromosome 19 · 19q13.41
NCBI Gene: 90353Ensembl: ENSG00000142544.8HGNC: HGNC:29590UniProt: Q7Z7A3
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolprotein bindingcytosolic tRNA wobble base thiouridylase complextRNA wobble position uridine thiolationneurodegenerative diseaseArthropathyosteoarthritis, kneedeafness
✦AI Summary

CTU1 (cytosolic thiouridylase subunit 1) catalyzes 2-thiolation of mcm5s2U at wobble position 34 of specific tRNAs (tRNA-Lys, tRNA-Glu, tRNA-Gln), a modification essential for accurate codon decoding during translation 1. As part of the cytosolic thiouridylase complex with CTU2, CTU1 directly binds tRNAs and likely catalyzes adenylation as an intermediate step in the thiolation pathway 1. This tRNA modification mechanism has significant disease relevance in cancer biology. CTU1 expression increases in response to BRAF V600E oncogenic signaling and PI3K pathway activation in melanoma; simultaneous MAPK and CTU1 inhibition synergistically kills melanoma cells by disrupting codon-dependent translation of HIF1A mRNA and reducing glycolysis 2. Similarly, in breast cancer, CTU1 and its partner ELP3 support invasion and metastasis through selective translation of the oncoprotein DEK and downstream LEF1 expression 3. CTU1 is also essential when mTORC1 is inactive, becoming critically required for ribosomal protein synthesis and cell survival 4. Beyond cancer, CTU1 is essential for normal angiogenesis and embryonic development in vertebrates, with CTU1 deficiency causing impaired endothelial cell proliferation and migration 1. These findings establish CTU1 as a potential therapeutic target in both cancer and developmental contexts.

Sources cited
1
CTU1 catalyzes 2-thiolation at wobble position 34 of tRNA substrates and is essential for angiogenesis and embryonic development
PMID: 39705244
2
CTU1 is required for BRAF V600E-driven melanoma survival and resistance to targeted therapy through regulation of HIF1A translation
PMID: 29925953
3
CTU1 and ELP3 are upregulated in breast cancer and support metastasis through selective translation of DEK and LEF1
PMID: 27811057
4
CTU1 becomes critically essential for cell growth and ribosomal protein synthesis when mTORC1 is inactive
PMID: 40328729
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.26Weak
ArthropathyOpen Targets
0.09Suggestive
osteoarthritis, kneeOpen Targets
0.09Suggestive
deafnessOpen Targets
0.05Suggestive
actinic keratosisOpen Targets
0.05Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.04Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.04Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.03Suggestive
hearing loss, autosomal recessiveOpen Targets
0.03Suggestive
hyperpituitarismOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
cervical cancerOpen Targets
0.01Suggestive
Zika virus infectious diseaseOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
cervical adenocarcinomaOpen Targets
0.01Suggestive
Invasive Breast CarcinomaOpen Targets
0.01Suggestive
Nijmegen breakage syndromeOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NDUFS1Protein interaction100%NDUFV2Protein interaction100%NDUFA5Protein interaction100%NDUFS3Protein interaction100%NDUFV1Protein interaction100%NDUFS2Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
70%
Lung
43%
Brain
22%
Heart
18%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
CTU1NDUFS1NDUFV2NDUFA5NDUFS3NDUFV1NDUFS2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q7Z7A3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.98LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF2.21 [1.30–1.98]
RankingsWhere CTU1 stands among ~20K protein-coding genes
  • #14,140of 20,598
    Most Researched20
  • #17,818of 17,882
    Most Constrained (LOEUF)1.98
Genes detectedCTU1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Codon-specific translation reprogramming promotes resistance to targeted therapy.
PMID: 29925953
Nature · 2018
1.00
2
mTORC1 cooperates with tRNA wobble modification to sustain the protein synthesis machinery.
PMID: 40328729
Nat Commun · 2025
0.90
3
Genomic Landscape of Intramedullary Spinal Cord Gliomas.
PMID: 31822682
Sci Rep · 2019
0.80
4
Dysfunctional tRNA reprogramming and codon-biased translation in cancer.
PMID: 36241532
Trends Mol Med · 2022
0.70
5
De Novo Design of Efficient NIR-II-Activated Heavy-Atom-Free Type-I Photosensitizer for Anti-Tumor Photoimmunotherapy.
PMID: 40465313
Adv Mater · 2025
0.60