• Gene id: 54516

Gene Summary

• Gene Symbol: MTRF1L   Gene   UCSC   Ensembl
• Aliases: HMRF1L, MRF1L, mtRF1a
• Gene name: mitochondrial translational release factor 1 like
• Alternate names: peptide chain release factor 1-like, mitochondrial, mitochondrial release factor 1 like,
• Gene location: 6q25.2 (67847692: 67828156)     Exons: 17     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protei
• OMIM: 613542

Protein Summary

• Protein general information: Q9UGC7  
  • Name: Peptide chain release factor 1 like, mitochondrial (Mitochondrial translational release factor 1 like) (mtRF1a)
  • Length: 380  
  • Mass: 43600
  • Tissue specificity: Expressed in skeletal muscle (at protein level). {ECO
• Sequence:

  MRSRVLWGAARWLWPRRAVGPARRPLSSGSPPLEELFTRGGPLRTFLERQAGSEAHLKVRRPELLAVIKLLNEKE
  RELRETEHLLHDENEDLRKLAENEITLCQKEITQLKHQIILLLVPSEETDENDLILEVTAGVGGQEAMLFTSEIF
  DMYQQYAAFKRWHFETLEYFPSELGGLRHASASIGGSEAYRHMKFEGGVHRVQRVPKTEKQGRVHTSTMTVAILP
  QPTEINLVINPKDLRIDTKRASGAGGQHVNTTDSAVRIVHLPTGVVSECQQERSQLKNKELAMTKLRAKLYSMHL
  EEEINKRQNARKIQIGSKGRSEKIRTYNFPQNRVTDHRINKTLHDLETFMQGDYLLDELVQSLKEYADYESLVEI
  ISQKV

• Structural information:
  • Interpro: IPR005139  IPR000352  
  • Prosite: PS00745
  • STRING: ENSP00000356202
• Other Databases: GeneCards:  MTRF1L  Malacards:  MTRF1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006415	translational termination	IBA	biological process
GO:0043022	ribosome binding	IBA	molecular function
GO:0070126	mitochondrial translational termination	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0016149	translation release factor activity, codon specific	IBA	molecular function
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:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0070126	mitochondrial translational termination	TAS	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray