Property Summary

NCBI Gene PubMed Count 20
Grant Count 5
R01 Count 5
Funding $254,885.2
PubMed Score 5.80
PubTator Score 12.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis -2.300 0.000
osteosarcoma -2.066 0.000

Gene RIF (8)

PMID Text
26642043 GTPBP3 defective expression is associated with an mitochondrial-tRNA hypomodification status.GTPBP3 plays a role in the regulation of UCP2 and MCP1 proteins through AMPK signaling.
25434004 Most individuals with GTPBP3 mutations developed neurological symptoms and MRI involvement of thalamus, putamen, and brainstem resembling Leigh syndrome.
25149473 Results show that post-transcriptional expression of GTPBP3, MTO1 and TRMU genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19209188 Meta-analysis of gene-disease association. (HuGE Navigator)
18852288 Data show that the two most abundant GTPBP3 isoforms exhibit moderate affinity for guanine nucleotides like their bacterial homologue, MnmE, although they hydrolyze GTP at a 100-fold lower rate.
15542390 Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.
12370316 GTPBP3 localizes in the mitochondria and is a deafness-associated homolog of yeast MSS1.

AA Sequence

MWRGLWTLAAQAARGPRRLCTRRSSGAPAPGSGATIFALSSGQGRCGIAVIRTSGPASGHALRILTAPRD      1 - 70
LPLARHASLRLLSDPRSGEPLDRALVLWFPGPQSFTGEDCVEFHVHGGPAVVSGVLQALGSVPGLRPAEA     71 - 140
GEFTRRAFANGKLNLTEVEGLADLIHAETEAQRRQALRQLDGELGHLCRGWAETLTKALAHVEAYIDFGE    141 - 210
DDNLEEGVLEQADIEVRALQVALGAHLRDARRGQRLRSGVHVVVTGPPNAGKSSLVNLLSRKPVSIVSPE    211 - 280
PGTTRDVLETPVDLAGFPVLLSDTAGLREGVGPVEQEGVRRARERLEQADLILAMLDASDLASPSSCNFL    281 - 350
ATVVASVGAQSPSDSSQRLLLVLNKSDLLSPEGPGPGPDLPPHLLLSCLTGEGLDGLLEALRKELAAVCG    351 - 420
DPSTDPPLLTRARHQHHLQGCLDALGHYKQSKDLALAAEALRVARGHLTRLTGGGGTEEILDIIFQDFCV    421 - 490
GK                                                                        491 - 492
//

Text Mined References (23)

PMID Year Title
26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
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.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25434004 2014 Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
25416956 2014 A proteome-scale map of the human interactome network.
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.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19209188 2009 Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
18852288 2008 Characterization of human GTPBP3, a GTP-binding protein involved in mitochondrial tRNA modification.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
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