• Gene id: 9617

Gene Summary

• Gene Symbol: MTRF1   Gene   UCSC   Ensembl
• Aliases: MRF1, MTTRF1, RF1
• Gene name: mitochondrial translation release factor 1
• Alternate names: peptide chain release factor 1, mitochondrial, MRF-1, mitochondrial translational release factor 1, mitochontrial peptide chain release factor 1, mtRF-1,
• Gene location: 13q14.11 (30695985: 30628980)     Exons: 28     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of tra
• OMIM: 604601

Protein Summary

• Protein general information: O75570  
  • Name: Peptide chain release factor 1, mitochondrial (MRF 1) (MtRF 1)
  • Length: 445  
  • Mass: 52306
• Sequence:

  MNRHLCVWLFRHPSLNGYLQCHIQLHSHQFRQIHLDTRLQVFRQNRNCILHLLSKNWSRRYCHQDTKMLWKHKAL
  QKYMENLSKEYQTLEQCLQHIPVNEENRRSLNRRHAELAPLAAIYQEIQETEQAIEELESMCKSLNKQDEKQLQE
  LALEERQTIDQKINMLYNELFQSLVPKEKYDKNDVILEVTAGRTTGGDICQQFTREIFDMYQNYSCYKHWQFELL
  NYTPADYGGLHHAAARISGDGVYKHLKYEGGIHRVQRIPEVGLSSRMQRIHTGTMSVIVLPQPDEVDVKLDPKDL
  RIDTFRAKGAGGQHVNKTDSAVRLVHIPTGLVVECQQERSQIKNKEIAFRVLRARLYQQIIEKDKRQQQSARKLQ
  VGTRAQSERIRTYNFTQDRVSDHRIAYEVRDIKEFLCGGKGLDQLIQRLLQSADEEAIAELLDEHLKSAK

• Structural information:
  • Interpro: IPR005139  IPR000352  
  • Prosite: PS00745
  • STRING: ENSP00000368793
• Other Databases: GeneCards:  MTRF1  Malacards:  MTRF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070126	mitochondrial translational termination	IBA	biological process
GO:0043022	ribosome binding	IBA	molecular function
GO:0006415	translational termination	IBA	biological process
GO:0016149	translation release factor activity, codon specific	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0003747	translation release factor activity	IEA	molecular function
GO:0006415	translational termination	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0003747	translation release factor activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0006449	regulation of translational termination	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray