DTWD1: DTW Domain Containing 1
A gene encoding a protein with a DTW domain, involved in tRNA modification and cellular processes.
Gene Information Card
| Symbol | DTWD1 |
|---|---|
| Full Name | DTW domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 56986 ncbi.nlm.nih.gov/gene/56986 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q8N5K1 |
| OMIM ID | 616827 |
| HGNC ID | 28306 |
| Aliases | FLJ20254, MGC13170 |
Description
DTWD1 encodes a protein containing a DTW domain, which is involved in the modification of tRNAs, specifically the 2-thiouridylation of the wobble position in tRNAs. This modification is critical for accurate translation and cellular function. The gene is located on chromosome 15q21.1 and is expressed in various tissues.
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 |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
| Kidney | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
| A549 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown effect |
| c.100C>T | synonymous | <0.01% | No effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • tRNA modification | • 2-thiouridine biosynthesis |
| • cytoplasm | • nucleus |
Pathways
• tRNA modification pathway
Protein Summary
The DTWD1 protein is a 305-amino acid protein that localizes to the cytoplasm and nucleus. It contains a DTW domain and is involved in the 2-thiouridylation of tRNAs, a modification that ensures proper codon-anticodon pairing during translation. Its precise molecular function and interactions are still under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DTWD1 Knockout HEK293 Cell Line | EDC07550 | Human | 56986 | Details Get a Quote |
| DTWD1 Knockout HeLa Cell Line | EDJ-KQ56784 | Human | 56986 | Details Get a Quote |
| DTWD1 Knockout A-549 Cell Line | EDJ-KQ65288 | Human | 56986 | Details Get a Quote |
| DTWD1 Knockout HCT 116 Cell Line | EDJ-KQ73730 | Human | 56986 | Details Get a Quote |
| Dtwd1 Knockout AML12 Cell Line | EDC07718 | Mouse | 69185 | Details Get a Quote |
| DTWD1 and DTWD2 Knockout HEK293 Cell Line | EDC08269 | Human | 56986 and 285605 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
