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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GATC
glutamyl-tRNA amidotransferase subunit C
Chromosome 12 Β· 12q24.31
NCBI Gene: 283459Ensembl: ENSG00000257218.7HGNC: HGNC:25068UniProt: O43716
24PubMed Papers
19Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmitochondrial translationglutaminyl-tRNAGln biosynthesis via transamidationmitochondrioncombined oxidative phosphorylation deficiency 42adolescent idiopathic scoliosisacquired thrombocytopeniaAbnormality of the skeletal system
✦AI Summary

GATC (glutamyl-tRNA amidotransferase subunit C) is a mitochondrial enzyme that catalyzes the formation of correctly charged glutaminyl-tRNA through transamidation of misacylated glutamyl-tRNA(Gln) in the presence of glutamine and ATP. This process generates an activated gamma-phospho-Glu-tRNA(Gln) intermediate and is essential for accurate mitochondrial protein synthesis. GATC functions as part of the glutamyl-tRNA(Gln) amidotransferase complex and facilitates proper tRNA charging, a critical step in translational fidelity. Genetic defects in GATC cause Combined Oxidative Phosphorylation Deficiency 42 (COXPD42), a severe mitochondrial disorder. The disease association reflects the critical dependence of mitochondrial respiration on accurate protein synthesis, as impaired tRNA aminoacylation leads to defective synthesis of electron transport chain components and oxidative phosphorylation machinery. While specific clinical manifestations of GATC mutations have not been detailed in available literature, the disease classification suggests severe metabolic consequences affecting cellular energy production. GATC represents an important quality-control mechanism in mitochondrial translation, and its dysfunction exemplifies how disrupted aminoacyl-tRNA synthesis impairs bioenergetic capacity and causes multisystem mitochondrial disease.

Sources cited
1
Not relevant to GATC gene function - discusses tirzepatide and metabolism
PMID: 40203836
2
Not relevant to GATC gene function - discusses gene therapy for CGD
PMID: 31988463
3
References GATC as a DNA methylation sequence motif, not the GATC gene protein
PMID: 36732350
4
Not relevant to GATC gene function - discusses extracellular nucleic acids
PMID: 27753044
5
References GATC as a bacterial DNA methylation motif, not the GATC gene protein
PMID: 25695131
6
References GATC as a DNA sequence motif for drug binding, not the GATC gene protein
PMID: 10580832
7
Not relevant to GATC gene function - discusses IER2 in melanoma
PMID: 34611309
8
References GATC as a bacterial DNA methylation motif in P. gingivalis, not the GATC gene protein
PMID: 37436062
Disease Associationsβ“˜19
combined oxidative phosphorylation deficiency 42Open Targets
0.52Moderate
adolescent idiopathic scoliosisOpen Targets
0.10Weak
acquired thrombocytopeniaOpen Targets
0.10Suggestive
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
obesityOpen Targets
0.04Suggestive
mathematical abilityOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
infectionOpen Targets
0.00Suggestive
diabetic nephropathyOpen Targets
0.00Suggestive
lactic acidosisOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
diffuse large B-cell lymphomaOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
glioma susceptibility 1Open Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
Combined oxidative phosphorylation deficiency 42UniProt
Pathogenic Variants1
NM_176818.3(GATC):c.233T>G (p.Met78Arg)Pathogenic
Cardiomyopathy, mitochondrial|Combined oxidative phosphorylation deficiency 42
β˜…β˜†β˜†β˜†2018β†’ Residue 78
View on ClinVar β†—
Related Genes
UQCR10Protein interaction100%UQCR11Protein interaction100%UQCRHProtein interaction100%UQCRFS1Protein interaction100%COX5BProtein interaction100%UQCRC2Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
41%
Ovary
31%
Lung
30%
Heart
28%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
GATCUQCR10UQCR11UQCRHUQCRFS1COX5BUQCRC2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O43716
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.43LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.47–1.43]
RankingsWhere GATC stands among ~20K protein-coding genes
  • #13,194of 20,598
    Most Researched24
  • #5,329of 5,498
    Most Pathogenic Variants1
  • #14,717of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedGATC
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Tirzepatide did not impact metabolic adaptation in people with obesity, but increased fat oxidation.
PMID: 40203836
Cell Metab Β· 2025
1.00
2
Lentiviral gene therapy for X-linked chronic granulomatous disease.
PMID: 31988463
Nat Med Β· 2020
0.90
3
Genome-wide deposition of 6-methyladenine in human DNA reduces the viability of HEK293 cells and directly influences gene expression.
PMID: 36732350
Commun Biol Β· 2023
0.80
4
Academia Meets Industry.
PMID: 27753044
Adv Exp Med Biol Β· 2016
0.70
5
Mycoplasma CG- and GATC-specific DNA methyltransferases selectively and efficiently methylate the host genome and alter the epigenetic landscape in human cells.
PMID: 25695131
Epigenetics Β· 2015
0.60