GUF1

This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Description

GUF1 homolog, GTPase

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

4 (44678420 - 44700928)

Ensembl ID

ENSG00000151806  (ver. 103.38)

Orthologs

Mouse Guf1: ENSMUSG00000029208

UniProt

Q8N442

neXtProt

NX_Q8N442

Human splice variants
Mouse splice variants

Protein structure