GTPBP1
entrez
9567
canonical
uniprot
O00178
canonical
ensembl
ENSG00000100226
resolver
ensp
ENSP00000216044
resolver
ensp
ENSP00000677974
resolver
enst
ENST00000216044
resolver
genesymbol
GTPBP1
resolver
hgnc
HGNC:4669
resolver
uniprot
Q6IC67
resolver
uniprot_entry
GTPB1_HUMAN
resolver
uniprot_sec
Q6IC67
resolver
amino_acid_sequence
MATERSRSAMDSPVPASMFAPEPSSPGAARAAAAAARLHGGFDSDCSEDGEALNGEPELDLTSKLVLVSPTSEQYDSLLRQMWERMDEGCGETIYVIGQGSDGTEYGLSEADMEASYATVKSMAEQIEADVILLRERQEAGGRVRDYLVRKRVGDNDFLEVRVAVVGNVDAGKSTLLGVLTHGELDNGRGFARQKLFRHKHEIESGRTSSVGNDILGFDSEGNVVNKPDSHGGSLEWTKICEKSTKVITFIDLAGHEKYLKTTVFGMTGHLPDFCMLMVGSNAGIVGMTKEHLGLALALNVPVFVVVTKIDMCPANILQETLKLLQRLLKSPGCRKIPVLVQSKDDVIVTASNFSSERMCPIFQISNVTGENLDLLKMFLNLLSPRTSYREEEPAEFQIDDTYSVPGVGTVVSGTTLRGLIKLNDTLLLGPDPLGNFLSIAVKSIHRKRMPVKEVRGGQTASFALKKIKRSSIRKGMVMVSPRLNPQASWEFEAEILVLHHPTTISPRYQAMVHCGSIRQTATILSMDKDCLRTGDKATVHFRFIKTPEYLHIDQRLVFREGRTKAVGTITKLLQTTNNSPMNSKPQQIKMQSTKKGPLTKRDEGGPSGGPAVGAPPPGDEASSVGAGQPAASSNLQPQPKPSSGGRRRGGQRHKVKSQGACVTPASGC
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 (NEDFET1) [MIM:620888]: An autosomal recessive disorder characterized by microcephaly, profound neurodevelopmental impairment, distinctive craniofacial features, ectodermal defects, and tetraparesis. {ECO:0000269|PubMed:38118446}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.3
uniprot
proteins
function
FUNCTION: GTPase that plays a role in the elongation phase of protein synthesis by forming ternary complexes with GTP and aminoacyl-transfer RNAs (aa-tRNAs), and delivering aa-tRNAs to the ribosomal A site in a GTP-dependent manner (PubMed:30108131). Is also able to deliver deacylated tRNA to the A site (PubMed:30108131). Additionally, it is involved in RNA quality control; after GTP hydrolysis, which is not immediately followed by rapid peptide bond formation, GTPBP1 likely retains aa-tRNA in the A site and promotes exosomal degradation of faulty mRNAs engaged in 80S elongation complexes (PubMed:30108131). Plays a role in the regulation of circadian mRNA stability (By similarity). {ECO:0000250|UniProtKB:D2XV59, ECO:0000269|PubMed:30108131}.
uniprot
proteins
mass_dalton
72454
uniprot
proteins
protein_family
Classic translation factor GTPase family
uniprot
proteins
protein_family
GTPBP1 subfamily
uniprot
proteins
protein_family
TRAFAC class translation factor GTPase superfamily
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30108131
uniprot
proteins
pubmed
38118446
uniprot
proteins
pubmed
9070279
uniprot
proteins
sequence_length
669
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:D2XV59}.
uniprot
proteins