DUS1L
Dihydrouridine Synthase 1 Like
Gene Information Card
| Symbol | DUS1L |
|---|---|
| Full Name | Dihydrouridine Synthase 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 64118 ncbi.nlm.nih.gov/gene/64118 |
| Ensembl ID | ENSG00000108784 |
| UniProt ID | Q6P1R4 |
| OMIM ID | 617537 |
| HGNC ID | 28173 |
| Aliases | PP3111, FLJ20421 |
Description
DUS1L 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 translation. The protein localizes to mitochondria and is involved in mitochondrial tRNA modification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 51 | Loss-of-function mutations impair mitochondrial tRNA modification, leading to defective oxidative phosphorylation | PMID: 31474318 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Heart | 10.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.2 | 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 | Loss of start codon, likely loss of function |
| c.502C>T (p.Arg168Trp) | Missense | Rare | Impaired catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Reported in combined oxidative phosphorylation deficiency 51
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • tRNA dihydrouridine synthase activity | • tRNA modification |
| • mitochondrion | • RNA binding |
Pathways
• tRNA modification in mitochondria
Protein Summary
DUS1L is a 369-amino acid mitochondrial protein that catalyzes the formation of dihydrouridine in tRNA. It contains a conserved FMN-binding domain and is essential for mitochondrial translation and oxidative phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DUS1L Knockout HEK293 Cell Line | EDJ-KQ13221 | Human | 64118 | Details Get a Quote |
| DUS1L Knockout A-549 Cell Line | EDC90650 | Human | 64118 | Details Get a Quote |
| DUS1L Knockout HCT 116 Cell Line | EDJ-KQ42592 | Human | 64118 | Details Get a Quote |
| DUS1L Knockout HeLa Cell Line | EDJ-KQ42593 | Human | 64118 | Details Get a Quote |
| DUS1L Knockout Hep-G2 Cell Line | EDJ-KZ195 | Human | 64118 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
