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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DUS4L
dihydrouridine synthase 4 like
Chromosome 7 · 7q22.3
NCBI Gene: 11062Ensembl: ENSG00000105865.12HGNC: HGNC:21517UniProt: A4D0R5
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tRNA dihydrouridine synthesistRNA dihydrouridine synthase activitytRNA-dihydrouridine20a synthase activitytRNA processingCOG5-congenital disorder of glycosylationneurodegenerative diseasesmoking initiationgenetic disorder
✦AI Summary

DUS4L (dihydrouridine synthase 4 like) primarily catalyzes synthesis of dihydrouridine, a modified base in the D-loop of most tRNAs, representing its canonical housekeeping function. However, emerging evidence reveals broader oncogenic roles beyond tRNA modification. DUS4L is significantly upregulated in lung adenocarcinoma (LUAD) tissues and promotes tumor progression through interaction with the signaling molecule GRB2, activating PI3K/AKT and ERK/MAPK pathways to induce epithelial-mesenchymal transition and enhance cell migration and invasion 1. DUS4L knockdown suppresses LUAD cell proliferation and promotes apoptosis, with affected genes enriched in spliceosome, ribosome, and p53 signaling pathways 2. Beyond cancer, DUS4L participates in the DUS4L-BCAP29 fusion transcript, which exists in normal tissues and promotes cell growth and neural differentiation 34. Additionally, DUS4L variants show potential clinical utility as biomarkers for early prediction of knee osteoarthritis progression using machine learning models 5. The gene's disruption has been documented in complex chr7 rearrangements associated with neurodevelopmental disorders 6. These findings establish DUS4L as a multifunctional protein with roles in tRNA modification, cancer progression, and potentially musculoskeletal disease, making it a candidate therapeutic target for LUAD.

Sources cited
1
DUS4L upregulation in LUAD promotes invasion and metastasis via GRB2-mediated PI3K/AKT and ERK/MAPK signaling
PMID: 39216120
2
DUS4L silencing suppresses LUAD cell proliferation and promotes apoptosis with effects on spliceosome and p53 pathways
PMID: 33116848
3
DUS4L-BCAP29 fusion transcript exists in normal tissues and overexpression promotes cell growth and motility
PMID: 28415823
4
DUS4L-BCAP29 fusion RNA dramatically increases during neural differentiation and promotes this process
PMID: 30959201
5
DUS4L SNP variants are incorporated into machine learning models for predicting knee osteoarthritis progression
PMID: 36089590
6
DUS4L gene disruption occurs in complex chromosomal rearrangements associated with neurodevelopmental phenotypes
PMID: 35933106
Disease Associationsⓘ20
COG5-congenital disorder of glycosylationOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.29Weak
smoking initiationOpen Targets
0.16Weak
genetic disorderOpen Targets
0.15Weak
congenital disorder of glycosylationOpen Targets
0.12Weak
metabolic syndromeOpen Targets
0.07Suggestive
coronary artery diseaseOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
insomniaOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
portal hypertensionOpen Targets
0.03Suggestive
enteritisOpen Targets
0.03Suggestive
aplastic anemiaOpen Targets
0.03Suggestive
urinary system diseaseOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
Genu valgumOpen Targets
0.02Suggestive
Genu varumOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TRMT1LShared pathway100%DUS1LShared pathway100%TRMUShared pathway100%MTO1Shared pathway100%DUS4L-BCAP29Co-mentioned in literature100%COG5Protein interaction75%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
64%
Brain
63%
Ovary
52%
Liver
43%
Lung
27%
Gene Interaction Network
Click a node to explore
DUS4LTRMT1LDUS1LTRMUMTO1DUS4L-BCAP29COG5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O95620
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.64–1.18]
RankingsWhere DUS4L stands among ~20K protein-coding genes
  • #14,414of 20,598
    Most Researched19
  • #12,349of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedDUS4L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DUS4L suppresses invasion and metastasis in LUAD via modulation of PI3K/AKT and ERK/MAPK signaling through GRB2.
PMID: 39216120
Int Immunopharmacol · 2024
1.00
2
DUS4L Silencing Suppresses Cell Proliferation and Promotes Apoptosis in Human Lung Adenocarcinoma Cell Line A549.
PMID: 33116848
Cancer Manag Res · 2020
0.90
3
Recurrent fusion RNA DUS4L-BCAP29 in non-cancer human tissues and cells.
PMID: 28415823
Oncotarget · 2017
0.80
4
Case Study: The Recurrent Fusion RNA DUS4L-BCAP29 in Noncancer Human Tissues and Cells.
PMID: 31728976
Methods Mol Biol · 2020
0.70
5
A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing.
PMID: 35933106
Eur J Med Genet · 2022
0.60