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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GATB
glutamyl-tRNA amidotransferase subunit B
Chromosome 4 Β· 4q31.3
NCBI Gene: 5188Ensembl: ENSG00000059691.13HGNC: HGNC:8849UniProt: O75879
35PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
glutaminyl-tRNA synthase (glutamine-hydrolyzing) activitymitochondrial translationglutaminyl-tRNAGln biosynthesis via transamidationmitochondrioncombined oxidative phosphorylation deficiency 41intelligencemathematical abilityheadache disorder
✦AI Summary

GATB (glutamyl-tRNA amidotransferase subunit B) is a mitochondrial enzyme subunit essential for aminoacyl-tRNA biosynthesis. As part of the glutamyl-tRNA amidotransferase complex, GATB catalyzes the transamidation of misacylated Glu-tRNA(Gln) to generate correctly charged Gln-tRNA(Gln) in mitochondria, utilizing glutamine and ATP as substrates 1. This indirect pathway for glutaminyl-tRNA synthesis is critical for proper mitochondrial translation. GATB function has been demonstrated across diverse organisms; in Plasmodium parasites, GATB forms a heterodimeric complex with GatA and is essential for erythrocytic stage viability 1. In humans, GATB dysfunction is associated with combined oxidative phosphorylation deficiency 41 (COXPD41), reflecting the critical role of correct tRNA aminoacylation in mitochondrial respiratory chain assembly. Beyond its canonical function, GATB has been identified as a genetic risk locus in genome-wide association studies. In African ancestry populations, a variant in the GATB/FHIP1A region showed significant association with LDL cholesterol levels 2, and African ancestry-specific variants near PET112/GATB were associated with suicidal thoughts and behaviors 3. These findings suggest GATB involvement extends beyond mitochondrial translation to influence complex physiological and psychiatric phenotypes.

Sources cited
1
GATB is a subunit of glutamyl-tRNA amidotransferase that converts Glu-tRNA(Gln) to Gln-tRNA(Gln) and is essential for mitochondrial protein synthesis in apicomplexan parasites
PMID: 26318454
2
GATB/FHIP1A region variants are associated with LDL cholesterol levels in sub-Saharan African populations
PMID: 35546142
3
PET112/GATB locus variants were identified and replicated as African ancestry-specific genetic risk loci for suicidal thoughts and behaviors
PMID: 36515925
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
combined oxidative phosphorylation deficiency 41Open Targets
0.52Moderate
intelligenceOpen Targets
0.46Moderate
mathematical abilityOpen Targets
0.38Weak
headache disorderOpen Targets
0.35Weak
attention deficit hyperactivity disorderOpen Targets
0.34Weak
protozoa infectious diseaseOpen Targets
0.33Weak
gastroesophageal reflux diseaseOpen Targets
0.31Weak
TinnitusOpen Targets
0.30Weak
autism spectrum disorderOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.30Weak
substance-related disorderOpen Targets
0.27Weak
insomniaOpen Targets
0.24Weak
suicide behaviourOpen Targets
0.23Weak
dyslexiaOpen Targets
0.22Weak
Myocardial IschemiaOpen Targets
0.22Weak
suicidal ideationOpen Targets
0.22Weak
smoking initiationOpen Targets
0.20Weak
substance abuseOpen Targets
0.20Weak
coronary atherosclerosisOpen Targets
0.20Weak
immune system diseaseOpen Targets
0.19Weak
Combined oxidative phosphorylation deficiency 41UniProt
Pathogenic Variants4
NM_004564.3(GATB):c.741del (p.Thr248fs)Likely pathogenic
Combined oxidative phosphorylation deficiency 41
β˜…β˜†β˜†β˜†2025β†’ Residue 248
NM_004564.3(GATB):c.1331G>A (p.Ser444Asn)Likely pathogenic
Combined oxidative phosphorylation deficiency 41
β˜…β˜†β˜†β˜†2024β†’ Residue 444
NM_004564.3(GATB):c.580_581del (p.Ser194fs)Pathogenic
Cardiomyopathy, mitochondrial|Combined oxidative phosphorylation deficiency 41
β˜…β˜†β˜†β˜†2018β†’ Residue 194
NM_004564.3(GATB):c.408T>G (p.Phe136Leu)Pathogenic
Cardiomyopathy, mitochondrial|Combined oxidative phosphorylation deficiency 41
β˜…β˜†β˜†β˜†2018β†’ Residue 136
View on ClinVar β†—
Related Genes
CHCHD1Shared pathway100%MRPL54Shared pathway100%MRPL53Shared pathway100%GADD45GIP1Shared pathway100%MRPL45Shared pathway100%MRPL57Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Liver
37%
Brain
36%
Bone Marrow
23%
Ovary
20%
Lung
14%
Gene Interaction Network
Click a node to explore
GATBCHCHD1MRPL54MRPL53GADD45GIP1MRPL45MRPL57
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75879
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.61 [0.45–0.84]
RankingsWhere GATB stands among ~20K protein-coding genes
  • #10,971of 20,598
    Most Researched35
  • #3,825of 5,498
    Most Pathogenic Variants4
  • #7,218of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedGATB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification of Novel, Replicable Genetic Risk Loci for Suicidal Thoughts and Behaviors Among US Military Veterans.
PMID: 36515925
JAMA Psychiatry Β· 2023
1.00
2
Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits.
PMID: 35546142
Nat Commun Β· 2022
0.90
3
Effect of systemic antibiotic and probiotic therapies as adjuvant treatments of subgingival instrumentation for periodontitis: a randomized controlled clinical study.
PMID: 35319669
J Appl Oral Sci Β· 2022
0.80
4
A survey of Wolbachia infection in brachyceran flies from Iran.
PMID: 38776328
PLoS One Β· 2024
0.70
5
GATB: Genome Assembly & Analysis Tool Box.
PMID: 24990603
Bioinformatics Β· 2014
0.60