DUS4L
Dihydrouridine Synthase 4 Like
Gene Information Card
| Symbol | DUS4L |
|---|---|
| Full Name | Dihydrouridine Synthase 4 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 11062 ncbi.nlm.nih.gov/gene/11062 |
| Ensembl ID | ENSG00000105810 |
| UniProt ID | Q96G46 |
| OMIM ID | 617564 |
| HGNC ID | 25287 |
| Aliases | PP3111, DUS4 |
Description
DUS4L encodes a member of the dihydrouridine synthase family, which catalyzes the conversion of uridine to dihydrouridine in tRNA molecules. This modification is important for tRNA stability and proper protein translation. The enzyme localizes to the cytoplasm and is ubiquitously expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 9.8 | Medium |
| Adrenal gland | 8.5 | Medium |
| Liver | 6.2 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% (gnomAD) | Likely loss of start codon |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants described.
Dominant Negative (DN)
No dominant-negative mutations known.
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
DUS4L is a 364-amino acid protein (UniProt Q96G46) that belongs to the Dus family of FMN-dependent dihydrouridine synthases. It specifically modifies uridine residues in tRNA, contributing to the structural flexibility and stability of tRNA molecules. The protein is widely expressed with highest levels in testis and thyroid.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DUS4L Knockout Hep-G2 Cell Line | EDJ-KZ2 | Human | 11062 | Details Get a Quote |
| DUS4L Knockout U-87MG ATCC Cell Line | EDJ-KZ20 | Human | 11062 | Details Get a Quote |
| DUS4L Knockout HEK293 Cell Line | EDJ-KQ51036 | Human | 11062 | Details Get a Quote |
| DUS4L Knockout HeLa Cell Line | EDJ-KQ55559 | Human | 11062 | Details Get a Quote |
| DUS4L Knockout A-549 Cell Line | EDJ-KQ64054 | Human | 11062 | Details Get a Quote |
| DUS4L Knockout HCT 116 Cell Line | EDJ-KQ72503 | Human | 11062 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
