GUF1

Chr 4p12

GTP binding elongation factor GUF1

Aliases:: FLJ13220
MANE:: ENST00000281543.6

OMIM: 617064 ↗NCBI: 60558 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GUF1 · Q8N442

v62025-08-01

Predicted Aligned Error matrix for GUF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.6/ 100

Confident

669 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)51%
Low(50–70)5%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders

Disease associations (Open Targets)

infantile spasms
0.53
hearing loss, autosomal recessive
0.09
deafness
0.09
autosomal dominant nonsyndromic hearing loss
0.09
insomnia
0.08
gastric cancer
0.08
male infertility with azoospermia or oligozoospermia due to single gene mutation
0.07
type 2 diabetes nephropathy
0.07
Usher syndrome type 1
0.07
Usher syndrome
0.07

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

Protein function (UniProt)

Translation factor GUF1, mitochondrial

Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner