• Gene id: 60558

Gene Summary

• Gene Symbol: GUF1   Gene   UCSC   Ensembl
• Aliases: EF-4, EF4, EIEE40
• Gene name: GUF1 homolog, GTPase
• Alternate names: translation factor GUF1, mitochondrial, GTP-binding protein GUF1 homolog, GTPase of unknown function 1, elongation factor 4 homolog, ribosomal back-translocase,
• Gene location: 4p12 (44678394: 44700927)     Exons: 5     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 617064

Protein Summary

• Protein general information: Q8N442  
  • Name: Translation factor GUF1, mitochondrial (EC 3.6.5. ) (Elongation factor 4 homolog) (EF 4) (GTPase GUF1) (Ribosomal back translocase)
  • Length: 669  
  • Mass: 74328
• Sequence:

  MWTLVGRGWGCARALAPRATGAALLVAPGPRSAPTLGAAPESWATDRLYSSAEFKEKLDMSRFPVENIRNFSIVA
  HVDHGKSTLADRLLELTGTIDKTKNNKQVLDKLQVERERGITVKAQTASLFYNCEGKQYLLNLIDTPGHVDFSYE
  VSRSLSACQGVLLVVDANEGIQAQTVANFFLAFEAQLSVIPVINKIDLKNADPERVENQIEKVFDIPSDECIKIS
  AKLGTNVESVLQAIIERIPPPKVHRKNPLRALVFDSTFDQYRGVIANVALFDGVVSKGDKIVSAHTQKTYEVNEV
  GVLNPNEQPTHKLYAGQVGYLIAGMKDVTEAQIGDTLCLHKQPVEPLPGFKSAKPMVFAGMYPLDQSEYNNLKSA
  IEKLTLNDSSVTVHRDSSLALGAGWRLGFLGLLHMEVFNQRLEQEYNASVILTTPTVPYKAVLSSSKLIKEHREK
  EITIINPAQFPDKSKVTEYLEPVVLGTIITPDEYTGKIMMLCEARRAVQKNMIFIDQNRVMLKYLFPLNEIVVDF
  YDSLKSLSSGYASFDYEDAGYQTAELVKMDILLNGNTVEELVTVVHKDKAHSIGKAICERLKDSLPRQLFEIAIQ
  AAIGSKIIARETVKAYRKNVLAKCYGGDITRKMKLLKRQAEGKKKLRKIGNVEVPKDAFIKVLKTQSSK

• Structural information:
  • Protein Domains: (66..24-)
    (/note="tr-type-G")
  • Interpro: IPR006297  IPR035647  IPR000640  IPR004161  IPR031157   IPR038363  IPR013842  IPR035654  IPR027417  IPR005225  IPR000795  IPR009000  
  • Prosite: PS00301 PS51722
  • CDD: cd03709
  • STRING: ENSP00000281543
• Other Databases: GeneCards:  GUF1  Malacards:  GUF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0043022	ribosome binding	IEA	molecular function
GO:0045727	positive regulation of translation	IEA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881