GTPBP3
entrez
84705
canonical
uniprot
Q969Y2
canonical
ensembl
ENSG00000130299
resolver
ensp
ENSP00000313818
resolver
ensp
ENSP00000351644
resolver
ensp
ENSP00000354598
resolver
ensp
ENSP00000473150
resolver
genesymbol
GTPBP3
resolver
genesymbol_syn
MTGP1
resolver
hgnc
HGNC:14880
resolver
uniprot
A6NFH1
resolver
uniprot
A6NIG5
resolver
uniprot
A6NKR4
resolver
uniprot
A8K7B4
resolver
uniprot
B7Z4V8
resolver
uniprot
B7Z563
resolver
uniprot
Q8TCY6
resolver
uniprot
Q8WUW9
resolver
uniprot
Q969G4
resolver
uniprot
Q9BX61
resolver
uniprot_entry
B7Z563_HUMAN
resolver
uniprot_entry
GTPB3_HUMAN
resolver
uniprot_sec
A6NFH1
resolver
uniprot_sec
A6NIG5
resolver
uniprot_sec
A6NKR4
resolver
uniprot_sec
A8K7B4
resolver
uniprot_sec
B7Z4V8
resolver
uniprot_sec
Q8TCY6
resolver
uniprot_sec
Q8WUW9
resolver
uniprot_sec
Q969G4
resolver
uniprot_sec
Q9BX61
resolver
amino_acid_sequence
MWRGLWTLAAQAARGPRRLCTRRSSGAPAPGSGATIFALSSGQGRCGIAVIRTSGPASGHALRILTAPRDLPLARHASLRLLSDPRSGEPLDRALVLWFPGPQSFTGEDCVEFHVHGGPAVVSGVLQALGSVPGLRPAEAGEFTRRAFANGKLNLTEVEGLADLIHAETEAQRRQALRQLDGELGHLCRGWAETLTKALAHVEAYIDFGEDDNLEEGVLEQADIEVRALQVALGAHLRDARRGQRLRSGVHVVVTGPPNAGKSSLVNLLSRKPVSIVSPEPGTTRDVLETPVDLAGFPVLLSDTAGLREGVGPVEQEGVRRARERLEQADLILAMLDASDLASPSSCNFLATVVASVGAQSPSDSSQRLLLVLNKSDLLSPEGPGPGPDLPPHLLLSCLTGEGLDGLLEALRKELAAVCGDPSTDPPLLTRARHQHHLQGCLDALGHYKQSKDLALAAEALRVARGHLTRLTGGGGTEEILDIIFQDFCVGK
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198]: An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy and/or neurologic symptoms with onset in early childhood. Disease features include hypertrophic cardiomyopathy, hypotonia, delayed psychomotor development, lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Disease severity is variable, ranging from death in early infancy to survival into the second decade of life. {ECO:0000269|PubMed:25434004, ECO:0000269|PubMed:26741492, ECO:0000269|PubMed:33619562}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.1.-
uniprot
proteins
function
FUNCTION: GTPase component of the GTPBP3-MTO1 complex that catalyzes the 5-taurinomethyluridine (taum(5)U) modification at the 34th wobble position (U34) of mitochondrial tRNAs (mt-tRNAs), which plays a role in mt-tRNA decoding and mitochondrial translation (PubMed:29390138, PubMed:33619562). Taum(5)U formation on mammalian mt-tRNA requires the presence of both GTPBP3-mediated GTPase activity and MTO1 catalytic activity (PubMed:29390138). {ECO:0000269|PubMed:29390138, ECO:0000269|PubMed:33619562}.
uniprot
proteins
mass_dalton
52058
uniprot
proteins
mutagenesis
MUTAGEN 136; /note="R->E: Decreased GTPase catalytic efficiency, when associated with K-142."; /evidence="ECO:0000269|PubMed:33619562"; MUTAGEN 142; /note="E->K: Decreased GTPase catalytic efficiency, when associated with E-136."; /evidence="ECO:0000269|PubMed:33619562"; MUTAGEN 159; /note="E->R: Small decrease in GTPase catalytic efficiency, when associated with E-431."; /evidence="ECO:0000269|PubMed:33619562"; MUTAGEN 225; /note="E->K: Decreased GTPase catalytic efficiency, when associated with P-322."; /evidence="ECO:0000269|PubMed:33619562"; MUTAGEN 259; /note="N->A: Strong decrease in GTPase catalytic efficiency."; /evidence="ECO:0000269|PubMed:33619562"; MUTAGEN 315; /note="E->A: Decreased GTPase catalytic efficiency."; /evidence="ECO:0000269|PubMed:33619562"; MUTAGEN 322; /note="A->P: Decreased GTPase catalytic efficiency, when associated with K-225."; /evidence="ECO:0000269|PubMed:33619562"; MUTAGEN 431; /note="R->E: Small decrease in GTPase catalytic efficiency, when associated with R-159."; /evidence="ECO:0000269|PubMed:33619562
uniprot
proteins
protein_family
TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily
uniprot
proteins
protein_family
TrmE GTPase family
uniprot
proteins
pubmed
12370316
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15542390
uniprot
proteins
pubmed
25434004
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
29390138
uniprot
proteins
pubmed
33619562
uniprot
proteins
sequence_length
492
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12370316, ECO:0000269|PubMed:33619562}.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm {ECO:0000269|PubMed:33619562}.
uniprot
proteins