HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DTWD1
DTW motif tRNA-uridine aminocarboxypropyltransferase 1
Chromosome 15 · 15q21.2
NCBI Gene: 56986Ensembl: ENSG00000104047.16HGNC: HGNC:30926UniProt: Q8N5C7
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tRNA-uridine aminocarboxypropyltransferase activitytRNA modificationnucleusasthmaEpiretinal membraneneurodegenerative diseaseKeloid
✦AI Summary

DTWD1 (DTW motif tRNA-uridine aminocarboxypropyltransferase 1) catalyzes the formation of 3-(3-amino-3-carboxypropyl)uridine (acp3U) at position 20 in the D-loop of cytoplasmic tRNAs 1. This tRNA modification confers thermal stability on tRNA molecules and is physiologically important in mammals, as double knockout of DTWD1 and its homolog DTWD2 causes growth retardation in cultured cells 1. Beyond its canonical tRNA modification function, DTWD1 appears to have broader disease relevance. It is regulated by stress-responsive miR-218-5p in the prefrontal cortex under chr15 corticosterone exposure, linking it to depression pathophysiology 2. DTWD1 expression is associated with poor prognosis in multiple cancer types: it is a HIF1α-regulated target gene whose expression correlates with reduced disease-free survival in melanoma 3, and it associates with tumor-stroma ratio and prognosis in bladder cancer 4 and hepatocellular carcinoma 5. Additionally, DTWD1 genetic variants associate with antidepressant side-effects 6, bipolar disorder functional outcomes 7, and chr15 obstructive pulmonary disease susceptibility 8. These findings suggest DTWD1 has complex roles extending beyond tRNA modification to influence stress responses, cancer progression, and psychiatric/pulmonary disease susceptibility.

Sources cited
1
DTWD1 catalyzes acp3U formation at position 20 of tRNAs; double knockout causes growth retardation and demonstrates physiological importance
PMID: 31804502
2
DTWD1 is a downstream target of stress-responsive miR-218-5p in chronic corticosterone-induced depression model
PMID: 34996981
3
DTWD1 is a HIF1α direct target gene whose expression correlates with reduced disease-free survival in melanoma
PMID: 28168807
4
DTWD1 expression associates with tumor-stroma ratio and prognosis in muscle-invasive bladder cancer
PMID: 36769068
5
DTWD1 is a prognostic feature gene in hepatocellular carcinoma with distinct expression in risk groups
PMID: 40719833
6
DTWD1 variants show suggestive association with antidepressant medication side-effects in GWAS
PMID: 22041458
7
DTWD1 is a plausible biological candidate near bipolar disorder functional outcome-associated loci
PMID: 30503783
8
DTWD1 genetic variants replicate as COPD susceptibility loci in Taiwanese population
PMID: 38886662
Disease Associationsⓘ20
asthmaOpen Targets
0.31Weak
Epiretinal membraneOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.27Weak
KeloidOpen Targets
0.23Weak
chronic obstructive pulmonary diseaseOpen Targets
0.22Weak
vascular diseaseOpen Targets
0.22Weak
Toxic Nodular GoiterOpen Targets
0.22Weak
bone fractureOpen Targets
0.22Weak
intestinal diseaseOpen Targets
0.22Weak
hypothyroidismOpen Targets
0.21Weak
liver diseaseOpen Targets
0.21Weak
actinic keratosisOpen Targets
0.20Weak
colorectal carcinomaOpen Targets
0.20Weak
exostosisOpen Targets
0.20Weak
basal cell carcinomaOpen Targets
0.19Weak
irritable bowel syndromeOpen Targets
0.17Weak
human papilloma virus infectionOpen Targets
0.10Weak
oral cavity cancerOpen Targets
0.10Weak
goiterOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WDR4Shared pathway100%ANKRD16Shared pathway100%THUMPD1Shared pathway100%QNG1Shared pathway100%QTRT1Shared pathway100%QTRT2Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Brain
55%
Heart
53%
Lung
43%
Bone Marrow
39%
Liver
39%
Gene Interaction Network
Click a node to explore
DTWD1WDR4ANKRD16THUMPD1QNG1QTRT1QTRT2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N5C7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.68–1.28]
RankingsWhere DTWD1 stands among ~20K protein-coding genes
  • #16,435of 20,598
    Most Researched12
  • #13,522of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedDTWD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Biogenesis and functions of aminocarboxypropyluridine in tRNA.
PMID: 31804502
Nat Commun · 2019
1.00
2
Corticosterone-mediated regulation and functions of miR-218-5p in rat brain.
PMID: 34996981
Sci Rep · 2022
0.90
3
Hypoxia-induced HIF1α targets in melanocytes reveal a molecular profile associated with poor melanoma prognosis.
PMID: 28168807
Pigment Cell Melanoma Res · 2017
0.80
4
Machine Learning Quantified Tumor-Stroma Ratio Is an Independent Prognosticator in Muscle-Invasive Bladder Cancer.
PMID: 36769068
Int J Mol Sci · 2023
0.70
5
Efficient region-based test strategy uncovers genetic risk factors for functional outcome in bipolar disorder.
PMID: 30503783
Eur Neuropsychopharmacol · 2019
0.60