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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DUS1L
dihydrouridine synthase 1 like
Chromosome 17 Β· 17q25.3
NCBI Gene: 64118Ensembl: ENSG00000169718.19HGNC: HGNC:30086UniProt: Q6P1R4
18PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingtRNA-dihydrouridine17 synthase activitytRNA dihydrouridine synthesisnucleusNeurodevelopmental delaySeizuremicrocephalyglioblastoma
✦AI Summary

Based on limited published evidence, DUS1L catalyzes dihydrouridine synthesis at positions 16 and 17 (D16/D17) in cytoplasmic tRNAs 1. This modification occurs in the D-loop region of most tRNAs 2. DUS1L modulates mature tRNA levels and affects cellular translation capacity 1. The enzyme requires NADPH or NADH as cofactors for in vitro activity 1. Elevated DUS1L expression is associated with poorer prognosis in glioma patients and involves altered tRNA processing and translational perturbations 1. DUS1L has also been implicated in colorectal cancer metastatic transformation 3.

Sources cited
1
DUS1L catalyzes D16/D17 dihydrouridine modification in cytoplasmic tRNAs; requires NADPH/NADH; affects mature tRNA levels and translation; elevated expression associated with poorer glioma prognosis
PMID: 39354220
2
DUS1L catalyzes dihydrouridine synthesis in the D-loop of most tRNAs
PMID: 34798057
3
DUS1L involvement in colorectal cancer initiation and metastatic transformation
PMID: 35443089
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
microcephalyOpen Targets
0.27Weak
Neurodevelopmental delayOpen Targets
0.27Weak
SeizureOpen Targets
0.27Weak
glioblastomaOpen Targets
0.02Suggestive
gliomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
pachyonychia congenitaOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
pancreatic adenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants1
NM_022156.5(DUS1L):c.896del (p.Glu299fs)Likely pathogenic
Microcephaly;Neurodevelopmental delay;Seizure
β˜…β˜†β˜†β˜†2024β†’ Residue 299
View on ClinVar β†—
Related Genes
DUS4LShared pathway100%MTO1Shared pathway100%TRMUShared pathway100%TRMT1LShared pathway100%NOC4LProtein interaction100%WDR36Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
53%
Lung
53%
Ovary
49%
Heart
24%
Brain
17%
Gene Interaction Network
Click a node to explore
DUS1LDUS4LMTO1TRMUTRMT1LNOC4LWDR36
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6P1R4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.69–1.10]
RankingsWhere DUS1L stands among ~20K protein-coding genes
  • #14,686of 20,598
    Most Researched18
  • #5,398of 5,498
    Most Pathogenic Variants1
  • #11,282of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedDUS1L
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Parallel-reaction monitoring revealed altered expression of a number of epitranscriptomic reader, writer, and eraser proteins accompanied with colorectal cancer metastasis.
PMID: 35443089
Proteomics Β· 2023
1.00
2
Human DUS1L catalyzes dihydrouridine modification at tRNA positions 16/17, and DUS1L overexpression perturbs translation.
PMID: 39354220
Commun Biol Β· 2024
0.50