Gene Gene information from NCBI Gene database.
Entrez ID 2107
Gene name Eukaryotic translation termination factor 1
Gene symbol ETF1
Synonyms (NCBI Gene)
D5S1995ERFERF1RF1SUP45L1TB3-1
Chromosome 5
Chromosome location 5q31.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
972
miRTarBase ID miRNA Experiments Reference
MIRT046100 hsa-miR-125b-5p CLASH 23622248
MIRT045869 hsa-miR-128-3p CLASH 23622248
MIRT042497 hsa-miR-423-3p CLASH 23622248
MIRT628249 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT628248 hsa-miR-6832-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP3 Repression 14563555
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
GO:0002184 Process Cytoplasmic translational termination IBA
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding TAS 7990965
GO:0003747 Function Translation release factor activity IDA 7990965, 26245381, 27863242, 36638793
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600285 3477 ENSG00000120705
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62495
Protein name Eukaryotic peptide chain release factor subunit 1 (Eukaryotic release factor 1) (eRF1) (Protein Cl1) (TB3-1)
Protein function Component of the eRF1-eRF3-GTP ternary complex, a ternary complex that mediates translation termination in response to the termination codons (PubMed:10676813, PubMed:16777602, PubMed:24486019, PubMed:26245381, PubMed:27863242, PubMed:36638793,
PDB 1DT9 , 2HST , 2KTU , 2KTV , 2LGT , 2LLX , 2MQ6 , 2MQ9 , 3E1Y , 3J5Y , 3JAG , 3JAH , 3JAI , 4D5N , 4D61 , 5A8L , 5LZT , 5LZU , 5LZV , 6D90 , 6IP8 , 6XA1 , 6ZME , 8SCB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03463 eRF1_1 18 140 eRF1 domain 1 Domain
PF03464 eRF1_2 145 277 eRF1 domain 2 Domain
PF03465 eRF1_3 280 417 eRF1 domain 3 Domain
Sequence
Sequence length 437
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mRNA surveillance pathway   Eukaryotic Translation Termination
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans HPO_DG
★☆☆☆☆
Found in Text Mining only
Acrocephaly Acrocephaly CTD_human_DG 23354439
★☆☆☆☆
Found in Text Mining only
Acrocephaly Acrocephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Apert syndrome Apert Syndrome BEFREE 24578066
★☆☆☆☆
Found in Text Mining only
Apraxias Apraxia Pubtator 30758909 Associate
★☆☆☆☆
Found in Text Mining only
Arnold Chiari Malformation Arnold-Chiari malformation CTD_human_DG 23354439
★☆☆☆☆
Found in Text Mining only
Arnold Chiari Malformation Arnold-Chiari malformation HPO_DG
★☆☆☆☆
Found in Text Mining only
Arnold-Chiari Malformation, Type I Arnold-Chiari malformation CTD_human_DG 23354439
★☆☆☆☆
Found in Text Mining only
Arnold-Chiari Malformation, Type III Arnold-Chiari malformation CTD_human_DG 23354439
★☆☆☆☆
Found in Text Mining only
Arnold-Chiari Malformation, Type IV Arnold-Chiari malformation CTD_human_DG 23354439
★☆☆☆☆
Found in Text Mining only