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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GTPBP3
GTP binding protein 3, mitochondrial
Chromosome 19 · 19p13.11
NCBI Gene: 84705Ensembl: ENSG00000130299.18HGNC: HGNC:14880UniProt: B7Z563
51PubMed Papers
21Diseases
0Drugs
48Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tRNA 5-taurinomethyluridine synthase activitymitochondrial tRNA wobble uridine modificationprotein bindingGTPBP3-MTO1 complexCombined oxidative phosphorylation defect type 23neurodegenerative diseasegenetic disordermitochondrial disease
✦AI Summary

GTPBP3 is a mitochondrial GTPase that catalyzes 5-taurinomethyluridine (τm5U) modification at the wobble position (U34) of mitochondrial tRNAs 1. As the GTPase component of the GTPBP3-MTO1 complex, GTPBP3 cooperatively functions with MTO1 to enable this critical tRNA modification 1. The τm5U modification is essential for accurate codon-anticodon base pairing during mitochondrial translation, particularly at lysine (AAG) and leucine (UUG) codons 2. GTPBP3 is ubiquitously expressed in metabolically active tissues including heart, liver, and brain 3. Loss-of-function mutations in GTPBP3 cause Combined Oxidative Phosphorylation Deficiency 23 (COXPD23), a rare mitochondrial disorder characterized by hyperlactatemia, hypertrophic cardiomyopathy, seizures, developmental delay, and neurological symptoms 45. τm5U hypomodification due to GTPBP3 deficiency impairs mitochondrial translation, reducing expression of respiratory chain enzymes and compromising oxidative phosphorylation 2. Severe phenotypes correlate with homozygous variants and loss-of-function mutations concentrated in the TrmE-type G domain 4. The disease shows variable severity, with early childhood mortality in severe cases and developmental delay predominating in milder presentations 46.

Sources cited
1
GTPBP3 is an active GTPase component of GTPBP3-MTO1 complex catalyzing τm5U biosynthesis at U34 of mitochondrial tRNAs
PMID: 33619562
2
τm5U modification enables accurate mitochondrial translation at specific codons and is required for oxidative phosphorylation
PMID: 29364879
3
GTPBP3 is a mitochondrial GTPase ubiquitously expressed in metabolically active tissues involved in tRNA modification
PMID: 14680828
4
GTPBP3 mutations cause COXPD23 with hyperlactatemia, cardiomyopathy, seizures; variants concentrate in TrmE-type G domain
PMID: 36980825
5
GTPBP3 mutations present with clinical features of lactic acidosis, myocardial damage, and neurologic symptoms
PMID: 34276756
6
GTPBP3 deficiency causes developmental delay, seizures, cardiomyopathy, and eye complications with impaired mitochondrial biogenesis
PMID: 39719609
Disease Associationsⓘ21
Combined oxidative phosphorylation defect type 23Open Targets
0.79Strong
neurodegenerative diseaseOpen Targets
0.49Moderate
genetic disorderOpen Targets
0.41Moderate
mitochondrial diseaseOpen Targets
0.37Weak
Leigh syndromeOpen Targets
0.19Weak
hypertrophic cardiomyopathyOpen Targets
0.16Weak
pneumoconiosisOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
macular holesOpen Targets
0.02Suggestive
wet macular degenerationOpen Targets
0.02Suggestive
malignant peripheral nerve sheath tumorOpen Targets
0.02Suggestive
gliomaOpen Targets
0.01Suggestive
limb ischemiaOpen Targets
0.01Suggestive
lactic acidosisOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
Global developmental delayOpen Targets
0.01Suggestive
EncephalopathyOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
MELASOpen Targets
0.01Suggestive
glaucomaOpen Targets
0.01Suggestive
Combined oxidative phosphorylation deficiency 23UniProt
Pathogenic Variants48
NM_032620.4(GTPBP3):c.17G>A (p.Trp6Ter)Pathogenic
not provided|See cases
★★☆☆2025→ Residue 6
NM_032620.4(GTPBP3):c.509_510del (p.Glu170fs)Pathogenic
See cases|not provided
★★☆☆2025→ Residue 170
NM_032620.4(GTPBP3):c.664+23_664+26delPathogenic
Combined oxidative phosphorylation defect type 23|not provided|GTPBP3-related disorder
★★☆☆2024
NM_032620.4(GTPBP3):c.643G>T (p.Glu215Ter)Pathogenic
Combined oxidative phosphorylation defect type 23|not provided
★★☆☆2022→ Residue 215
NM_032620.4(GTPBP3):c.865G>T (p.Glu289Ter)Pathogenic
not provided|Combined oxidative phosphorylation defect type 23
★★☆☆2020→ Residue 289
NM_032620.4(GTPBP3):c.610del (p.Ala204fs)Pathogenic
not provided
★☆☆☆2026→ Residue 204
NM_032620.4(GTPBP3):c.974+1G>CLikely pathogenic
not provided
★☆☆☆2025
NM_032620.4(GTPBP3):c.293G>A (p.Trp98Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 98
NM_032620.4(GTPBP3):c.356del (p.Pro119fs)Pathogenic
not provided
★☆☆☆2025→ Residue 119
NM_032620.4(GTPBP3):c.1032del (p.Ser345fs)Pathogenic
not provided
★☆☆☆2025→ Residue 345
NM_032620.4(GTPBP3):c.523C>T (p.Gln175Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 175
NM_032620.4(GTPBP3):c.748del (p.Val250fs)Pathogenic
GTPBP3-related disorder|not provided
★☆☆☆2025→ Residue 250
NM_032620.4(GTPBP3):c.2T>C (p.Met1Thr)Pathogenic
not provided
★☆☆☆2025→ Residue 1
NM_032620.4(GTPBP3):c.1A>G (p.Met1Val)Pathogenic
not provided
★☆☆☆2024→ Residue 1
NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs)Likely pathogenic
Combined oxidative phosphorylation defect type 23
★☆☆☆2024→ Residue 431
NM_032620.4(GTPBP3):c.930_931del (p.Val311fs)Pathogenic
not provided
★☆☆☆2024→ Residue 311
NM_032620.4(GTPBP3):c.802del (p.Leu268fs)Pathogenic
not provided
★☆☆☆2024→ Residue 268
NM_032620.4(GTPBP3):c.946C>T (p.Gln316Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 316
NM_032620.4(GTPBP3):c.512del (p.Ala171fs)Pathogenic
not provided
★☆☆☆2024→ Residue 171
NM_032620.4(GTPBP3):c.102_106dup (p.Ile36fs)Pathogenic
not provided
★☆☆☆2024→ Residue 36
View on ClinVar ↗
Related Genes
MRPL1Protein interaction99%NDUFAB1Protein interaction99%MRPL21Protein interaction96%ERGIC2Protein interaction93%ERGIC3Protein interaction93%ERGIC1Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Ovary
71%
Lung
64%
Bone Marrow
48%
Heart
36%
Brain
31%
Gene Interaction Network
Click a node to explore
GTPBP3MRPL1NDUFAB1MRPL21ERGIC2ERGIC3ERGIC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q969Y2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.64–1.11]
RankingsWhere GTPBP3 stands among ~20K protein-coding genes
  • #8,682of 20,598
    Most Researched51
  • #1,375of 5,498
    Most Pathogenic Variants48
  • #11,403of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedGTPBP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mitochondrial translation requires folate-dependent tRNA methylation.
PMID: 29364879
Nature · 2018
1.00
2
Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modification.
PMID: 14680828
Biochem Biophys Res Commun · 2003
0.90
3
Pathogenicity Analysis of a Novel Variant in
PMID: 36980825
Genes (Basel) · 2023
0.80
4
Novel Mutations in the
PMID: 34276756
Front Genet · 2021
0.70
5
Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases.
PMID: 39380483
Nucleic Acids Res · 2024
0.60