• Gene id: 2107

Gene Summary

• Gene Symbol: ETF1   Gene   UCSC   Ensembl
• Aliases: D5S1995, ERF, ERF1, RF1, SUP45L1, TB3-1
• Gene name: eukaryotic translation termination factor 1
• Alternate names: eukaryotic peptide chain release factor subunit 1, polypeptide chain release factor 1, protein Cl1, sup45 (yeast omnipotent suppressor 45) homolog-like 1,
• Gene location: 5q31.2 (138218489: 138215985)     Exons: 1     NC_000006.12
• Gene summary(Entrez): This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which prom
• OMIM: 600285

Protein Summary

• Protein general information: P62495  
  • Name: Eukaryotic peptide chain release factor subunit 1 (Eukaryotic release factor 1) (eRF1) (Protein Cl1) (TB3 1)
  • Length: 437  
  • Mass: 49031
• Sequence:

  MADDPSAADRNVEIWKIKKLIKSLEAARGNGTSMISLIIPPKDQISRVAKMLADEFGTASNIKSRVNRLSVLGAI
  TSVQQRLKLYNKVPPNGLVVYCGTIVTEEGKEKKVNIDFEPFKPINTSLYLCDNKFHTEALTALLSDDSKFGFIV
  IDGSGALFGTLQGNTREVLHKFTVDLPKKHGRGGQSALRFARLRMEKRHNYVRKVAETAVQLFISGDKVNVAGLV
  LAGSADFKTELSQSDMFDQRLQSKVLKLVDISYGGENGFNQAIELSTEVLSNVKFIQEKKLIGRYFDEISQDTGK
  YCFGVEDTLKALEMGAVEILIVYENLDIMRYVLHCQGTEEEKILYLTPEQEKDKSHFTDKETGQEHELIESMPLL
  EWFANNYKKFGATLEIVTDKSQEGSQFVKGFGGIGGILRYRVDFQGMEYQGGDDEFFDLDDY

• Structural information:
  • Interpro: IPR042226  IPR005140  IPR005141  IPR005142  IPR029064   IPR004403  IPR024049  
  • PDB: 1DT9 2HST 2KTU 2KTV 2LGT 2LLX 2MQ6 2MQ9 3E1Y 3J5Y 3JAG 3JAH 3JAI 4D5N 4D61 5A8L 5LZT 5LZU 5LZV 6D90 6IP8
  • PDBsum: 1DT9 2HST 2KTU 2KTV 2LGT 2LLX 2MQ6 2MQ9 3E1Y 3J5Y 3JAG 3JAH 3JAI 4D5N 4D61 5A8L 5LZT 5LZU 5LZV 6D90 6IP8
  • STRING: ENSP00000353741
• Other Databases: GeneCards:  ETF1  Malacards:  ETF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0018444	translation release factor complex	IBA	cellular component
GO:1990825	sequence-specific mRNA binding	IBA	molecular function
GO:0002184	cytoplasmic translational termination	IBA	biological process
GO:0016149	translation release factor activity, codon specific	IBA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0008079	translation termination factor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006449	regulation of translational termination	IMP	biological process
GO:0003747	translation release factor activity	IEA	molecular function
GO:0006415	translational termination	IEA	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	TAS	molecular function
GO:0008079	translation termination factor activity	TAS	molecular function
GO:0003747	translation release factor activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006449	regulation of translational termination	TAS	biological process
GO:0006479	protein methylation	IDA	biological process
GO:0006415	translational termination	IDA	biological process
GO:0003747	translation release factor activity	IDA	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	NOT|cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043022	ribosome binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003747	translation release factor activity	TAS	molecular function
GO:1990825	sequence-specific mRNA binding	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray