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 promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing ... See more...

Aliases for ETF1 Gene

Aliases for ETF1 Gene

  • Eukaryotic Translation Termination Factor 1 2 3 5
  • ERF1 2 3 4 4
  • TB3-1 2 3 4
  • RF1 2 3 4
  • Sup45 (Yeast Omnipotent Suppressor 45) Homolog-Like 1 2 3
  • Eukaryotic Peptide Chain Release Factor Subunit 1 3 4
  • Polypeptide Chain Release Factor 1 2 3
  • Protein Cl1 3 4
  • SUP45L1 3 4
  • Eukaryotic Release Factor 1 4
  • D5S1995 3
  • ETF1 5
  • ERF 3

External Ids for ETF1 Gene

Previous HGNC Symbols for ETF1 Gene

  • SUP45L1
  • ERF1
  • ERF

Previous GeneCards Identifiers for ETF1 Gene

  • GC05M137716
  • GC05M138516
  • GC05M137872
  • GC05M137918
  • GC05M137869
  • GC05M133032
  • GC05M137843

Summaries for ETF1 Gene

Entrez Gene Summary for ETF1 Gene

  • 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 promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug 2013]

GeneCards Summary for ETF1 Gene

ETF1 (Eukaryotic Translation Termination Factor 1) is a Protein Coding gene. Diseases associated with ETF1 include Bone Chondrosarcoma and Human Monocytic Ehrlichiosis. Among its related pathways are Viral mRNA Translation and mRNA surveillance pathway. Gene Ontology (GO) annotations related to this gene include ribosome binding.

UniProtKB/Swiss-Prot Summary for ETF1 Gene

  • Directs the termination of nascent peptide synthesis (translation) in response to the termination codons UAA, UAG and UGA (PubMed:7990965, PubMed:24486019). Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Required for SHFL-mediated translation termination which inhibits programmed ribosomal frameshifting (-1PRF) of mRNA from viruses and cellular genes (PubMed:30682371).

Gene Wiki entry for ETF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ETF1 Gene

Genomics for ETF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ETF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETF1

Top Transcription factor binding sites by QIAGEN in the ETF1 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • GATA-1
  • GR
  • GR-alpha
  • GR-beta
  • POU2F1
  • POU2F1a
  • TBP

Genomic Locations for ETF1 Gene

Latest Assembly
chr5:138,506,095-138,543,236
(GRCh38/hg38)
Size:
37,142 bases
Orientation:
Minus strand

Previous Assembly
chr5:137,841,784-137,878,925
(GRCh37/hg19 by Entrez Gene)
Size:
37,142 bases
Orientation:
Minus strand

chr5:137,841,784-137,878,989
(GRCh37/hg19 by Ensembl)
Size:
37,206 bases
Orientation:
Minus strand

Genomic View for ETF1 Gene

Genes around ETF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETF1 Gene

Proteins for ETF1 Gene

  • Protein details for ETF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62495-ERF1_HUMAN
    Recommended name:
    Eukaryotic peptide chain release factor subunit 1
    Protein Accession:
    P62495
    Secondary Accessions:
    • B2R6B4
    • D3DQC1
    • P46055
    • Q5M7Z7
    • Q96CG1

    Protein attributes for ETF1 Gene

    Size:
    437 amino acids
    Molecular mass:
    49031 Da
    Quaternary structure:
    • Heterodimer of two subunits, one of which binds GTP (PubMed:19417104). Component of the transient SURF (SMG1-UPF1-eRF1-eRF3) complex (PubMed:19417104). Interacts with JMJD4 (PubMed:24486019). The ETF1-GSPT1 complex interacts with JMJD4 (PubMed:24486019).

    Three dimensional structures from OCA and Proteopedia for ETF1 Gene

    Alternative splice isoforms for ETF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETF1 Gene

Post-translational modifications for ETF1 Gene

  • Methylated at Gln-185 by N6AMT1.
  • Hydroxylation at Lys-63 by JMJD4 promotes its translational termination efficiency.
  • Ubiquitination at Lys171, Lys384, and Lys404
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ETF1 Gene

Domains & Families for ETF1 Gene

Gene Families for ETF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ETF1 Gene

InterPro:
Blocks:
  • Ribosomal protein L7Ae/L30e/S12e/Gadd45

Suggested Antigen Peptide Sequences for ETF1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56175, highly similar to Eukaryotic peptide chain release factor subunit1 (B7Z7P8_HUMAN)
  • TB3-1 (ERF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P62495

UniProtKB/Swiss-Prot:

ERF1_HUMAN :
  • Belongs to the eukaryotic release factor 1 family.
Family:
  • Belongs to the eukaryotic release factor 1 family.
genes like me logo Genes that share domains with ETF1: view

Function for ETF1 Gene

Molecular function for ETF1 Gene

UniProtKB/Swiss-Prot Function:
Directs the termination of nascent peptide synthesis (translation) in response to the termination codons UAA, UAG and UGA (PubMed:7990965, PubMed:24486019). Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Required for SHFL-mediated translation termination which inhibits programmed ribosomal frameshifting (-1PRF) of mRNA from viruses and cellular genes (PubMed:30682371).
GENATLAS Biochemistry:
eukaryotic translation termination factor 1,associating with the catalytic subunit of protein phosphatase 2A

Phenotypes From GWAS Catalog for ETF1 Gene

Gene Ontology (GO) - Molecular Function for ETF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS,HDA 22658674
GO:0003747 translation release factor activity IEA,TAS 15326224
GO:0005515 protein binding IPI 9620853
GO:0008079 translation termination factor activity IMP 24486019
GO:0016149 translation release factor activity, codon specific IBA 21873635
genes like me logo Genes that share ontologies with ETF1: view
genes like me logo Genes that share phenotypes with ETF1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ETF1 Gene

Localization for ETF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETF1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETF1 gene
Compartment Confidence
cytosol 4
nucleus 3
peroxisome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ETF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 NOT nucleus IDA 12426392
GO:0005737 cytoplasm IEA,IDA 12426392
GO:0005829 cytosol TAS --
GO:0018444 translation release factor complex IBA 21873635
genes like me logo Genes that share ontologies with ETF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ETF1 Gene

Pathways & Interactions for ETF1 Gene

genes like me logo Genes that share pathways with ETF1: view

Pathways by source for ETF1 Gene

Gene Ontology (GO) - Biological Process for ETF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA,TAS --
GO:0002184 cytoplasmic translational termination IBA 21873635
GO:0006412 translation IEA --
GO:0006415 translational termination IEA,IDA 7990965
GO:0006449 regulation of translational termination IMP 30682371
genes like me logo Genes that share ontologies with ETF1: view

No data available for SIGNOR curated interactions for ETF1 Gene

Drugs & Compounds for ETF1 Gene

(4) Drugs for ETF1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(10) Additional Compounds for ETF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ETF1: view

Transcripts for ETF1 Gene

mRNA/cDNA for ETF1 Gene

6 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETF1

Alternative Splicing Database (ASD) splice patterns (SP) for ETF1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6: - - - -
SP7:

Relevant External Links for ETF1 Gene

GeneLoc Exon Structure for
ETF1

Expression for ETF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ETF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ETF1 Gene



Protein tissue co-expression partners for ETF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETF1

SOURCE GeneReport for Unigene cluster for ETF1 Gene:

Hs.483494

Evidence on tissue expression from TISSUES for ETF1 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Blood(4.5)
  • Skin(2.8)
  • Bone marrow(2.2)
  • Kidney(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with ETF1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ETF1 Gene

Orthologs for ETF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ETF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ETF1 29 30
  • 100 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ETF1 30
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ETF1 29 30 30
  • 96.64 (n)
OneToMany
Cow
(Bos Taurus)
Mammalia ETF1 29 30
  • 96.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Etf1 29
  • 95.04 (n)
Mouse
(Mus musculus)
Mammalia Etf1 29 16 30
  • 94.97 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ETF1 29 30
  • 88.86 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ETF1 30
  • 100 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia etf1 29
  • 84.36 (n)
MGC75958 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.3333 29
Zebrafish
(Danio rerio)
Actinopterygii etf1 29 29 30
  • 79.1 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010310 29
  • 71.25 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta eRF1 29 30 31
  • 71.02 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea T05H4.6a 31
  • 80 (a)
T05H4.6b 31
  • 80 (a)
etf-1 29 30
  • 71.93 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11231g 29
  • 67.06 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUP45 29 30 32
  • 66.04 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER028C 29
  • 63.57 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ERF1-1 29
  • 65.65 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8098 29
Soybean
(Glycine max)
eudicotyledons Gma.18085 29
Rice
(Oryza sativa)
Liliopsida Os01g0939500 29
  • 66.74 (n)
Os.7009 29
Barley
(Hordeum vulgare)
Liliopsida Hv.3060 29
Wheat
(Triticum aestivum)
Liliopsida Ta.5741 29
Corn
(Zea mays)
Liliopsida Zm.13318 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7901 30
  • 84 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU00410 29
  • 66.12 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sup45 29
  • 61.97 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4884 29
Species where no ortholog for ETF1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ETF1 Gene

ENSEMBL:
Gene Tree for ETF1 (if available)
TreeFam:
Gene Tree for ETF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ETF1: view image
Alliance of Genome Resources:
Additional Orthologs for ETF1

Paralogs for ETF1 Gene

No data available for Paralogs for ETF1 Gene

Variants for ETF1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ETF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ETF1 Gene

Variant ID Type Subtype PubMed ID
esv2669716 CNV deletion 23128226
esv2677157 CNV deletion 23128226
esv3566702 CNV deletion 23714750
nsv329728 CNV deletion 16902084
nsv968990 CNV duplication 23825009

Variation tolerance for ETF1 Gene

Residual Variation Intolerance Score: 24.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.05; 1.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETF1
Leiden Open Variation Database (LOVD)
ETF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETF1 Gene

Disorders for ETF1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ETF1 Gene - From: COP

Disorder Aliases PubMed IDs
bone chondrosarcoma
human monocytic ehrlichiosis
  • ehrlichiosis chafeensis
hydrolethalus syndrome 1
  • hls1
chronic purulent otitis media
  • chronic suppurative otitis media
acromelic frontonasal dysostosis
  • afnd
- elite association - COSMIC cancer census association via MalaCards
Search ETF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ETF1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ETF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ETF1 Gene

Publications for ETF1 Gene

  1. A highly conserved eukaryotic protein family possessing properties of polypeptide chain release factor. (PMID: 7990965) Frolova L … Philippe M (Nature 1994) 2 3 4 22
  2. Human release factor eRF1: structural organisation of the unique functional gene on chromosome 5 and of the three processed pseudogenes. (PMID: 10413110) Guenet L … Le Treut A (FEBS letters 1999) 3 4 22
  3. The catalytic subunit of protein phosphatase 2A associates with the translation termination factor eRF1. (PMID: 9003791) Andjelković N … Hemmings BA (The EMBO journal 1996) 3 4 22
  4. Regulation of HIV-1 Gag-Pol Expression by Shiftless, an Inhibitor of Programmed -1 Ribosomal Frameshifting. (PMID: 30682371) Wang X … Gao G (Cell 2019) 3 4
  5. Optimal translational termination requires C4 lysyl hydroxylation of eRF1. (PMID: 24486019) Feng T … Coleman ML (Molecular cell 2014) 3 4

Products for ETF1 Gene

Sources for ETF1 Gene