ADAT1: Adenosine Deaminase, tRNA-Specific 1
A key enzyme in tRNA editing and RNA modification
Gene Information Card
| Symbol | ADAT1 |
|---|---|
| Full Name | Adenosine Deaminase, tRNA-Specific 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 23536 ncbi.nlm.nih.gov/gene/23536 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9BUB4 |
| OMIM ID | 609262 |
| HGNC ID | 213 |
| Aliases | hADAT1, ADAT1_HUMAN, tRNA-specific adenosine deaminase 1 |
Description
ADAT1 encodes a member of the adenosine deaminase family that catalyzes the deamination of adenosine to inosine at the wobble position (position 34) of tRNA molecules. This RNA editing event is critical for proper tRNA function and translation fidelity. The enzyme is specific for tRNA substrates and requires zinc for catalytic activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered tRNA editing may affect translation of oncogenes or tumor suppressors | COSMIC database reports somatic mutations in multiple cancer types |
| Not yet established | No direct disease association confirmed | OMIM and ClinVar lack disease entries |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical cancer cells |
| K562 | 7.2 | Leukemia cells |
| HepG2 | 6.8 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% in gnomAD | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% in gnomAD | Unknown functional impact |
| c.784A>G (p.Ile262Val) | Missense | <0.01% in gnomAD | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or literature.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • adenosine deaminase activity | • tRNA binding |
| • zinc ion binding | • tRNA modification |
| • RNA editing |
Pathways
• tRNA processing
• RNA modification
Protein Summary
ADAT1 is a 502-amino acid protein that functions as a homodimer. It contains a conserved deaminase domain and a zinc-binding motif essential for catalytic activity. The enzyme specifically deaminates adenosine to inosine at position 34 of tRNA, a modification that expands decoding capacity during translation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAT1 Knockout HEK293 Cell Line | EDJ-KQ8058 | Human | 23536 | Details Get a Quote |
| ADAT1 Knockout HeLa Cell Line | EDJ-KQ32539 | Human | 23536 | Details Get a Quote |
| ADAT1 Knockout A-549 Cell Line | EDJ-KQ33878 | Human | 23536 | Details Get a Quote |
| ADAT1 Knockout HCT 116 Cell Line | EDJ-KQ33879 | Human | 23536 | Details Get a Quote |
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