DALRD3 Gene: DALR Anticodon Binding Domain Containing 3
A gene encoding a protein involved in tRNA modification and potential links to neurological disorders.
Gene Information Card
| Symbol | DALRD3 |
|---|---|
| Full Name | DALR anticodon binding domain containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 55152 ncbi.nlm.nih.gov/gene/55152 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q9H2P0 |
| OMIM ID | 618422 |
| HGNC ID | 26623 |
| Aliases | FLJ11273, MGC13125 |
Description
DALRD3 encodes a protein containing a DALR anticodon binding domain, which is characteristic of tRNA-modifying enzymes. The protein is predicted to play a role in post-transcriptional modification of tRNAs, potentially influencing translation fidelity. Mutations in DALRD3 have been associated with early-onset epileptic encephalopathy and developmental delay, suggesting a critical function in neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy 86 (DEE86) | Loss-of-function mutations in DALRD3 impair tRNA modification, leading to defective protein synthesis and neuronal dysfunction. | ClinVar, OMIM #618422 |
| Global developmental delay with seizures | Homozygous or compound heterozygous missense/nonsense variants disrupt protein function, resulting in neurological impairment. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Thyroid | 6.1 | Low |
| Liver | 4.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| HEK293 (embryonic kidney) | 7.8 | Common expression system |
| HeLa (cervical carcinoma) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.226C>T (p.Arg76Trp) | Missense | Rare | Impaired tRNA binding |
| c.487C>T (p.Arg163*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported DALRD3 mutations are loss-of-function (nonsense, frameshift, start loss), leading to reduced or absent protein activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations in DALRD3.
Dominant Negative (DN)
Not reported; inheritance pattern is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • tRNA modification | • tRNA binding |
| • anticodon binding | • cytoplasm |
| • transferase activity |
Pathways
• tRNA modification in the cytoplasm
Protein Summary
The DALRD3 protein (UniProt Q9H2P0) is 364 amino acids long and contains a conserved DALR domain. It is predicted to localize to the cytoplasm and function as a tRNA-modifying enzyme, likely catalyzing the formation of modified nucleotides in the anticodon loop. This modification is essential for accurate codon-anticodon pairing during translation, particularly in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DALRD3 Knockout HEK293 Cell Line | EDJ-KQ13092 | Human | 55152 | Details Get a Quote |
| DALRD3 Knockout A-549 Cell Line | EDJ-KQ42380 | Human | 55152 | Details Get a Quote |
| DALRD3 Knockout HCT 116 Cell Line | EDJ-KQ42381 | Human | 55152 | Details Get a Quote |
| DALRD3 Knockout HeLa Cell Line | EDJ-KQ42382 | Human | 55152 | Details Get a Quote |
