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GeneQ18045424· pop 6· linked from 4 articles

GUF1

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Also known as EF-4, GUF1 homolog, GTPase, EIEE40, EF4, GTP binding elongation factor GUF1, DEE40

'Mitochondrial GTP binding elongation factor (Homo Sapiens, GUF1)', is a protein which in humans is encoded by the GUF1 gene. The GUF1 protein plays an important role in maintaining proper mitochondrial function, ensuring accuracy when mitochondrial genes are being translated. The gene shows the most expression in the brain, while the least expression is found in the pancreas.

Gene data

GUF1
Name
GTP binding elongation factor GUF1
Type
protein-coding
Position
44,678,403–44,703,060 (+)
Aliases
DEE40, EF-4, EF4, EIEE40
Ensembl
ENSG00000151806
RefSeq RNA
NM_001345867.2, NM_001345868.2, NM_001345869.2, NM_021927.3, XM_024454178.2
RefSeq protein
NP_001332796.1, NP_001332797.1, NP_001332798.1, NP_068746.2, XP_024309946.1

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].

Gene Ontology

via MyGene.info

Gene · Ensembl

GTP binding elongation factor GUF1

Symbol
GUF1
Biotype
Protein coding
Organism
Homo sapiens
Location
4:44,678,403-44,703,060
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

~8 min read

Encyclopedic overview

14 sections
Contents
  • Function and biochemistry
  • Gene
  • Locus
  • Gene expression
  • Protein
  • Protein level regulation
  • Transcript
  • Homology
  • Orthologs
  • Paralogs
  • Evolutionary history
  • Interacting proteins
  • Clinical significance
  • References

'Mitochondrial GTP binding elongation factor (Homo Sapiens, GUF1)', is a protein which in humans is encoded by the GUF1 gene. The GUF1 protein plays an important role in maintaining proper mitochondrial function, ensuring accuracy when mitochondrial genes are being translated. The gene shows the most expression in the brain, while the least expression is found in the pancreas.

== Function and biochemistry == GUF1 is a GTPase that hydrolyzes GTP to GDP and plays an important role in maintaining mitochondrial function by ensuring accurate translation of mitochondrial genes. It helps prevent amino acid mis-incorporation under stress by facilitating ribosomal back-translocation during protein synthesis. Additionally, its C-terminal region aids in tRNA interaction, distinguishing it from other GTPases.

Excerpted from Wikipedia’s “GUF1” article, available under the CC BY-SA 4.0 licence.

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