ADAT3 Gene - Adenosine Deaminase tRNA Specific 3
tRNA Editing Enzyme and Neurodevelopmental Disorder Gene
Gene Information Card
| Symbol | ADAT3 |
|---|---|
| Full Name | Adenosine Deaminase tRNA Specific 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 113179 ncbi.nlm.nih.gov/gene/113179 |
| Ensembl ID | ENSG00000165416 |
| UniProt ID | Q96EY7 |
| OMIM ID | 614145 |
| HGNC ID | 25151 |
| Aliases | hADAT3, dJ20C7.3 |
Description
ADAT3 encodes a subunit of the tRNA-specific adenosine deaminase complex, which catalyzes the deamination of adenosine to inosine at the wobble position (position 34) of tRNA molecules. This modification is essential for proper tRNA function and translation fidelity. Mutations in ADAT3 cause autosomal recessive intellectual disability with microcephaly and strabismus (IDDMS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with microcephaly and strabismus (IDDMS) | Loss-of-function mutations in ADAT3 impair tRNA editing, leading to defective translation and neurodevelopmental abnormalities | OMIM #615286; ClinVar pathogenic variants |
| Autosomal recessive non-syndromic intellectual disability | Homozygous missense variants reduce ADAT3 enzymatic activity, disrupting brain development | PMID: 23159249; multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.9 | Low |
| Heart | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.3 | Neuronal cell line |
| HEK293 | 7.1 | Embryonic kidney |
| HeLa | 5.6 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.382G>A (p.Val128Met) | Missense | Homozygous in affected families | Loss of function; reduced tRNA editing |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of translation initiation |
| c.424C>T (p.Arg142*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported ADAT3 mutations are loss-of-function, impairing tRNA editing activity and leading to neurodevelopmental phenotypes.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADAT3.
Dominant Negative (DN)
No dominant-negative effects have been described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • tRNA-specific adenosine deaminase activity (GO:0008251) | • tRNA modification (GO:0006400) |
| • tRNA wobble base modification (GO:0002098) | • cytosol (GO:0005829) |
| • nucleus (GO:0005634) |
Pathways
• tRNA modification in the nucleus and cytosol
• tRNA wobble base editing
Protein Summary
ADAT3 is a 221-amino acid protein that forms a heterodimer with ADAT2 to catalyze the deamination of adenosine to inosine at the wobble position of tRNA. This modification is critical for decoding accuracy during protein synthesis. The protein is highly expressed in brain and testis. Pathogenic variants cause autosomal recessive intellectual disability with microcephaly and strabismus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
