Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84705
MIM: 608536
HGNC: 14880
Ensembl: ENSG00000130299
Variants:
dbSNP: 84705
ClinVar: 84705
TCGA: ENSG00000130299
COSMIC: GTPBP3
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Gene Expression | REACTOME | R-HSA-74160 |
| tRNA processing | REACTOME | R-HSA-72306 |
| tRNA modification in the mitochondrion | REACTOME | R-HSA-6787450 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36980825 | 2023 | Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review. | 3 |
| 36980825 | 2023 | Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review. | 3 |
| 33619562 | 2021 | The human tRNA taurine modification enzyme GTPBP3 is an active GTPase linked to mitochondrial diseases. | 13 |
| 33619562 | 2021 | The human tRNA taurine modification enzyme GTPBP3 is an active GTPase linked to mitochondrial diseases. | 13 |
| 32397755 | 2020 | Coding Variants in HOOK2 and GTPBP3 May Contribute to Risk of Primary Angle Closure Glaucoma. | 3 |
| 32397755 | 2020 | Coding Variants in HOOK2 and GTPBP3 May Contribute to Risk of Primary Angle Closure Glaucoma. | 3 |
| 29348686 | 2018 | Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis. | 14 |
| 29348686 | 2018 | Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis. | 14 |
| 28740091 | 2017 | microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases. | 5 |
| 28740091 | 2017 | microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases. | 5 |
| 25149473 | 2015 | The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome. | 31 |
| 26642043 | 2015 | Defective Expression of the Mitochondrial-tRNA Modifying Enzyme GTPBP3 Triggers AMPK-Mediated Adaptive Responses Involving Complex I Assembly Factors, Uncoupling Protein 2, and the Mitochondrial Pyruvate Carrier. | 16 |
| 25149473 | 2015 | The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome. | 31 |
| 26642043 | 2015 | Defective Expression of the Mitochondrial-tRNA Modifying Enzyme GTPBP3 Triggers AMPK-Mediated Adaptive Responses Involving Complex I Assembly Factors, Uncoupling Protein 2, and the Mitochondrial Pyruvate Carrier. | 16 |
| 25434004 | 2014 | Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. | 75 |
Citation
Dessen P
GTPBP3 (GTP binding protein 3, mitochondrial)
Atlas Genet Cytogenet Oncol Haematol. 2019-04-01
Online version: http://atlasgeneticsoncology.org/gene/57824/gtpbp3-(gtp-binding-protein-3-mitochondrial)
