2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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18PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein bindingtRNA-dihydrouridine17 synthase activitytRNA dihydrouridine synthesisnucleusNeurodevelopmental delaySeizuremicrocephalyglioblastoma
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.
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: 393542202
DUS1L catalyzes dihydrouridine synthesis in the D-loop of most tRNAs
PMID: 347980573
DUS1L involvement in colorectal cancer initiation and metastatic transformation
PMID: 35443089β Limited data available β This gene has 3 indexed publications. Summary and analysis may be incomplete.
Neurodevelopmental delayOpen Targets
triple-negative breast cancerOpen Targets
chronic kidney diseaseOpen Targets
breast cancerOpen Targets
glioblastoma multiformeOpen Targets
colorectal adenocarcinomaOpen Targets
colorectal carcinomaOpen Targets
ovarian cancerOpen Targets
pachyonychia congenitaOpen Targets
clear cell renal carcinomaOpen Targets
gastric cancerOpen Targets
pancreatic adenocarcinomaOpen Targets
thyroid cancer, nonmedullary, 1Open Targets
NM_022156.5(DUS1L):c.896del (p.Glu299fs)Likely pathogenic
Microcephaly;Neurodevelopmental delay;Seizure
β
βββ2024β Residue 299