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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ADAT1
adenosine deaminase tRNA specific 1
Chromosome 16 · 16q23.1
NCBI Gene: 23536Ensembl: ENSG00000065457.12HGNC: HGNC:228UniProt: Q9BUB4
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingtRNA processingnucleoplasmtRNA-specific adenosine deaminase activitytype 2 diabetes mellitusFamilial prostate cancerprostate cancerdiabetes mellitus
✦AI Summary

ADAT1 (adenosine deaminase tRNA specific 1) is a tRNA-specific adenosine deaminase that catalyzes post-transcriptional RNA modification. The enzyme specifically converts adenosine-37 to inosine in the anticodon loop of tRNA-Ala through hydrolytic deamination 1. This modification is part of the unique A(37) to m(1)I(37) conversion essential for eukaryotic tRNA-Ala function 2. ADAT1 is structurally related to the ADAR family of RNA editing enzymes but functions exclusively on tRNA substrates rather than pre-mRNA 3. The enzyme requires inositol hexakisphosphate (IP6) as a cofactor for both in vitro and in vivo catalytic activity 4. Human ADAT1 is encoded from a single-copy gene on chromosome 16-24, clustered with two tRNA synthetases (KARS and AARS), suggesting coordinated regulation of tRNA metabolism 1. Beyond its canonical tRNA modification role, ADAT1 has emerged as a disease-relevant gene. It was identified as a reproduction-related candidate gene with nonsynonymous polymorphisms in reproductive tissues 5, and recent exome-wide association studies identified ADAT1 variants as susceptibility loci for early-onset coronary artery disease in Japanese populations 6, suggesting broader physiological significance beyond tRNA modification.

Sources cited
1
ADAT1 catalyzes A(37) to m(1)I(37) modification in eukaryotic tRNA-Ala; human ADAT1 is a mammalian member of ADAR family
PMID: 10675613
2
ADAT1 converts A37 in anticodon loop of tRNA-Ala to inosine via hydrolytic deamination; located on chromosome 16q22-24 clustered with KARS and AARS
PMID: 11331948
3
ADAT1 is an adenosine deaminase acting on tRNA (ADAT) that generates inosine at position 37 in tRNA-Ala; ADATs are distinct from ADAR enzymes
PMID: 12457566
4
Inositol hexakisphosphate (IP6) is essential cofactor required for ADAT1 catalytic activity in vivo and in vitro
PMID: 16141067
5
ADAT1 contains nonsynonymous SNPs and is highly expressed in reproductive tissues, identified as reproduction-related candidate gene
PMID: 25917919
6
ADAT1 variants identified as susceptibility loci for early-onset coronary artery disease in Japanese population by exome-wide association study
PMID: 30402224
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.13Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.11Weak
smoking initiationOpen Targets
0.05Suggestive
infectious meningitisOpen Targets
0.03Suggestive
attention deficit hyperactivity disorderOpen Targets
0.03Suggestive
substance abuseOpen Targets
0.03Suggestive
endometriosisOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
cardiovascular diseaseOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
HypertriglyceridemiaOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADAT3Protein interaction100%ADAT2Protein interaction93%AARS1Protein interaction87%KARS1Protein interaction87%POP7Shared pathway67%RPP30Shared pathway67%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
91%
Heart
63%
Liver
53%
Lung
53%
Ovary
42%
Gene Interaction Network
Click a node to explore
ADAT1ADAT3ADAT2AARS1KARS1POP7RPP30
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BUB4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.78–1.19]
RankingsWhere ADAT1 stands among ~20K protein-coding genes
  • #15,481of 20,598
    Most Researched15
  • #12,528of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedADAT1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Sequence, genomic organization and functional expression of the murine tRNA-specific adenosine deaminase ADAT1.
PMID: 10675613
Gene · 2000
1.00
2
Identification of Reproduction-Related Gene Polymorphisms Using Whole Transcriptome Sequencing in the Large White Pig Population.
PMID: 25917919
G3 (Bethesda) · 2015
0.86
3
RNA editing by adenosine deaminases generates RNA and protein diversity.
PMID: 12457566
Biochimie · 2002
0.71
4
Genomic clustering of tRNA-specific adenosine deaminase ADAT1 and two tRNA synthetases.
PMID: 11331948
Mamm Genome · 2001
0.57
5
Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.
PMID: 30402224
Biomed Rep · 2018
0.43