DUS3L
Dihydrouridine Synthase 3 Like
Gene Information Card
| Symbol | DUS3L |
|---|---|
| Full Name | Dihydrouridine Synthase 3 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 56974 ncbi.nlm.nih.gov/gene/56974 |
| Ensembl ID | ENSG00000105639 |
| UniProt ID | Q96G46 |
| OMIM ID | 617207 |
| HGNC ID | 29300 |
| Aliases | PP3111, FLJ20421 |
Description
DUS3L encodes a member of the dihydrouridine synthase family. The enzyme catalyzes the conversion of uridine to dihydrouridine in tRNA molecules, a post-transcriptional modification that stabilizes tRNA structure and influences translation efficiency. DUS3L is localized to the cytoplasm and is ubiquitously expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal gland | 8.9 | Medium |
| Liver | 7.1 | Low |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 11.2 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare (gnomAD <0.01%) | Likely loss of start codon; functional impact unknown |
| c.374C>T (p.Thr125Met) | Missense | Rare (gnomAD <0.01%) | Substitution in conserved domain; no clinical significance reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants described.
View complete mutation data：
Gene Ontology (GO)
| • tRNA dihydrouridine synthase activity (GO:0017150) | • tRNA modification (GO:0006400) |
| • cytoplasm (GO:0005737) |
Pathways
• tRNA modification in the cytoplasm
Protein Summary
DUS3L is a 375-amino acid protein (UniProt Q96G46) that belongs to the dihydrouridine synthase family. It contains a conserved FMN-binding domain and catalyzes the reduction of uridine to dihydrouridine in tRNA. The protein is ubiquitously expressed with highest levels in testis and thyroid. No disease-causing mutations have been validated to date.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DUS3L Knockout HEK293 Cell Line | EDJ-KQ12443 | Human | 56931 | Details Get a Quote |
| DUS3L Knockout HeLa Cell Line | EDJ-KQ18107 | Human | 56931 | Details Get a Quote |
| DUS3L Knockout A-549 Cell Line | EDJ-KQ42597 | Human | 56931 | Details Get a Quote |
| DUS3L Knockout HCT 116 Cell Line | EDJ-KQ42599 | Human | 56931 | Details Get a Quote |
| DUS3L Knockout 786-O Cell Line | EDJ-KZ198 | Human | 56931 | Details Get a Quote |
| DUS3L Knockout Hep-G2 Cell Line | EDJ-KZ199 | Human | 56931 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
