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6 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GUF1
GTP binding elongation factor GUF1
Chromosome 4 Β· 4p12
NCBI Gene: 60558Ensembl: ENSG00000151806.15HGNC: HGNC:25799UniProt: Q8N442
41PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionmitochondrial ribosome bindingpositive regulation of translationtranslationinfantile spasmsinsomniaazoospermiagastric cancer
✦AI Summary

GUF1 encodes a mitochondrial GTPase that functions as an elongation factor promoting mitochondrial protein synthesis. 1 The protein binds to mitochondrial ribosomes in a GTP-dependent manner and acts as a fidelity factor by remobilizing stuck ribosomes and transiently inhibiting elongation to optimize translation accuracy. 1 GUF1-deficient mitochondria exhibit cold- and heat-sensitive growth defects with impaired protein synthesis at low temperatures and defective cytochrome oxidase assembly at elevated temperatures, particularly under nutrient-limiting conditions. 1 GUF1 mutations cause developmental epileptic encephalopathy 40, with a reported homozygous variant (p.Ala609Ser) identified in West syndrome patients presenting with infantile spasms and developmental regression. 2 The mutation affects a conserved alanine within the tRNA-binding domain, impairing GUF1 activity in suboptimal environments and potentially disrupting respiratory chain assembly. 2 Additionally, GUF1 expression correlates with cancer prognosis; reduced GUF1 expression negatively correlates with thyroid cancer prognosis, 3 while elevated GUF1 expression in gastric cancer correlates with poor prognosis and enhanced cell proliferation and migration. 4 GUF1 methylation patterns also show associations with colorectal cancer liver metastasis risk. 5

Sources cited
1
GUF1 is a mitochondrial GTPase that binds mitochondrial ribosomes, functions as a fidelity factor, and is critical for protein synthesis under suboptimal conditions
PMID: 18442968
2
Homozygous GUF1 variant (p.Ala609Ser) causes West syndrome; the mutation affects the tRNA-binding domain and impairs activity in suboptimal environments
PMID: 26486472
3
GUF1 expression negatively correlates with thyroid cancer prognosis
PMID: 37355885
4
High GUF1 expression in gastric cancer correlates with poor prognosis and promotes cell proliferation and migration
PMID: 39430826
5
GUF1 methylation patterns associate with colorectal cancer liver metastasis risk
PMID: 34108011
6
GUF1 mutations detected in pediatric patients with developmental epileptic encephalopathy
PMID: 37820178
Disease Associationsβ“˜21
infantile spasmsOpen Targets
0.52Moderate
insomniaOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
Kallmann syndromeOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
HypervolemiaOpen Targets
0.06Suggestive
spermatogenic failure 44Open Targets
0.06Suggestive
frozen shoulderOpen Targets
0.06Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.06Suggestive
spermatogenic failure 96Open Targets
0.06Suggestive
spermatogenic failure 77Open Targets
0.06Suggestive
spermatogenic failure 90Open Targets
0.06Suggestive
spermatogenic failure 15Open Targets
0.06Suggestive
spermatogenic failure 2Open Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
46,XX gonadal dysgenesisOpen Targets
0.05Suggestive
response to stimulusOpen Targets
0.05Suggestive
spermatogenic failure 65Open Targets
0.05Suggestive
spermatogenic failure 93Open Targets
0.05Suggestive
Developmental and epileptic encephalopathy 40UniProt
Pathogenic Variants1
NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser)Pathogenic
Developmental and epileptic encephalopathy, 40
β˜†β˜†β˜†β˜†2020β†’ Residue 609
View on ClinVar β†—
Related Genes
MRPS6Protein interaction100%MRPS9Protein interaction100%MRPL36Protein interaction100%MRPS16Protein interaction100%MRPS12Protein interaction100%MRPS5Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
82%
Bone Marrow
76%
Liver
44%
Ovary
39%
Lung
32%
Gene Interaction Network
Click a node to explore
GUF1MRPS6MRPS9MRPL36MRPS16MRPS12MRPS5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q8N442
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.54LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.15 [0.87–1.54]
RankingsWhere GUF1 stands among ~20K protein-coding genes
  • #10,018of 20,598
    Most Researched41
  • #5,158of 5,498
    Most Pathogenic Variants1
  • #15,383of 17,882
    Most Constrained (LOEUF)1.54
Genes detectedGUF1
Sources retrieved6 papers
Response timeβ€”
πŸ“„ Sources
6β–Ό
1
An integrative analysis of the tumor suppressors and oncogenes from sexual dimorphism and gene expression alteration features in thyroid cancer.
PMID: 37355885
Cancer Biomark Β· 2023
1.00
2
Prognostic biomarkers based on
PMID: 39430826
Transl Cancer Res Β· 2024
0.83
3
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
PMID: 26486472
Eur J Hum Genet Β· 2016
0.67
4
Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.
PMID: 37820178
Rev Assoc Med Bras (1992) Β· 2023
0.50
5
The membrane-bound GTPase Guf1 promotes mitochondrial protein synthesis under suboptimal conditions.
PMID: 18442968
J Biol Chem Β· 2008
0.33