GTPBP3

GTPBP3
Identifiers
Aliases	GTPBP3, GTPBG3, MSS1, MTGP1, THDF1, COXPD23, GTP binding protein 3 (mitochondrial), GTP binding protein 3, mitochondrial
External IDs	OMIM: 608536; MGI: 1917609; HomoloGene: 6600; GeneCards: GTPBP3; OMA:GTPBP3 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	17,342,731 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	71,499,583 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; tendon of biceps brachii; ; right adrenal gland; ; right adrenal cortex; ; left adrenal cortex; ; right uterine tube; ; skin of leg; ; skin of abdomen; ; body of pancreas; ; granulocyte;
	Top expressed in
	otic vesicle; ; Rostral migratory stream; ; epiblast; ; muscle of thigh; ; ventricular zone; ; superior frontal gyrus; ; granulocyte; ; primary visual cortex; ; dentate gyrus of hippocampal formation granule cell; ; embryo;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; protein binding; GTPase activity; GTP binding;
Cellular component	intracellular anatomical structure; nucleus; mitochondrion; cytoplasm;
Biological process	tRNA modification; tRNA processing; tRNA wobble uridine modification; tRNA methylation; embryonic organ development;
	Sources:Amigo / QuickGO
Orthologs
	84705
	70359
	ENSG00000130299
	ENSMUSG00000007610
	Q969Y2
	Q923K4
	NM_133644; NM_001128855; NM_001195422; NM_032620
	NM_032544
	NP_001122327; NP_001182351; NP_116009; NP_598399
	NP_115933
	Wikidata
View/Edit Human	View/Edit Mouse

tRNA modification GTPase GTPBP3, mitochondrial is an enzyme that in human is encoded by the GTPBP3 gene on chromosome 19.

The GTPBP3 gene encodes a GTP-binding protein that is evolutionarily conserved from bacteria to mammals and which is localized to the mitochondrion and functions in tRNA modification. At least two major isoforms due to alternative splicing are known In addition, a polymorphism on valine 250 is known and may influence aminoglydoside-induced deafness.