GTPBP1

Chr 22q13.1

GTP binding protein 1

Aliases:: GP-1, HSPC018
MANE:: ENST00000216044.10

OMIM: 602245 ↗NCBI: 9567 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GTPBP1 · O00178

v62025-08-01

Predicted Aligned Error matrix for GTPBP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.7/ 100

Confident

669 residues

Confidence breakdown

Very high(≥ 90)53%
Confident(70–90)23%
Low(50–70)3%
Very low(< 50)22%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1
0.54
neurodegenerative disease
0.33
prostate carcinoma
0.30
Emery-Dreifuss muscular dystrophy
0.19
disorder of ear
0.18
cholelithiasis
0.15
diverticular disease
0.06
chronic kidney disease
0.05
nonpapillary renal cell carcinoma
0.04
infection
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

GTP-binding protein 1

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)