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Gene : GUF1 Homo sapiens

Name  ? GUF1 homolog, GTPase Cytological Location  4p12
Brief Description  GUF1 homolog, GTPase
Description  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]
  • synonyms:
  • OTTHUMG00000128608,
  • GUF1,
  • GUF1 GTPase homolog (S. cerevisiae),
  • EF-4,
  • EIEE40,
  • NM_021927,
  • uc003gww.5,
  • EF4,
  • FLJ13220,
  • HGNC:25799
  • identifiers:
  • 60558,
  • ENSG00000151806,
  • GUF1

Genome feature

Region: gene ? Length: 22534  
Location: 4:44678395-44700928 Cyto location: 4p12


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results