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Aliases for ETF1 Gene

Aliases for ETF1 Gene

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

External Ids for ETF1 Gene

Previous HGNC Symbols for ETF1 Gene

  • SUP45L1
  • ERF1
  • ERF

Previous GeneCards Identifiers for ETF1 Gene

  • GC05M137716
  • 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 Myeloid Tumor Suppressor. Among its related pathways are Gene Expression and Translation Factors. Gene Ontology (GO) annotations related to this gene include ribosome binding.

UniProtKB/Swiss-Prot for ETF1 Gene

  • Directs the termination of nascent peptide synthesis (translation) in response to the termination codons UAA, UAG and UGA. 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.

Gene Wiki entry for ETF1 Gene

Additional gene information for ETF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETF1 Gene

Genomics for ETF1 Gene

GeneHancer (GH) Regulatory Elements for ETF1 Gene

Promoters and enhancers for ETF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I138540 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 552.2 -0.4 -378 7 CLOCK DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 ETF1 GC05P138544 LOC105379193 HNRNPA0 CDC23 KDM3B BRD8 WNT8A FAM53C GC05M138528
GH05I138463 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.2 +78.1 78051 4.1 CLOCK IRF4 YY1 E2F8 ZNF143 SP3 SSRP1 ZNF610 ZNF585B GLIS1 EGR1 HNRNPA0 CDC23 KDM3B BRD8 RPL7P19 ETF1 FAM13B FAM53C REEP2
GH05I139270 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 10.9 -731.7 -731747 8.2 HDGF HNRNPUL1 PKNOX1 CLOCK FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 MATR3 ENSG00000280987 SNHG4 SNORA74D KDM3B RPL7P19 SLC23A1 DNAJC18 ETF1 LOC105379194
GH05I138212 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.9 +329.9 329900 2 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B CDC23 ETF1 HNRNPA0 KDM3B GC05M138210
GH05I138469 Enhancer 1.1 ENCODE dbSUPER 11.1 +73.4 73429 1 HNRNPUL1 PKNOX1 SMAD1 POLR2B E2F8 CEBPZ NCOA1 REST MBD2 NFIL3 HNRNPA0 KDM3B CDC23 RPL7P19 REEP2 MATR3 BRD8 KLHL3 ETF1 HSPA9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ETF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ETF1 gene promoter:

Genomic Locations for ETF1 Gene

Genomic Locations for ETF1 Gene
chr5:138,506,093-138,543,300
(GRCh38/hg38)
Size:
37,208 bases
Orientation:
Minus strand
chr5:137,841,784-137,878,989
(GRCh37/hg19)

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. Component of the transient SURF (SMG1-UPF1-eRF1-eRF3) complex.

    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

  • Ubiquitination at posLast=171171, Lys384, and posLast=404404

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ETF1 (ETF1)
  • Abcam antibodies for ETF1

No data available for DME Specific Peptides for ETF1 Gene

Domains & Families for ETF1 Gene

Gene Families for ETF1 Gene

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

Suggested Antigen Peptide Sequences for ETF1 Gene

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

GENATLAS Biochemistry:
eukaryotic translation termination factor 1,associating with the catalytic subunit of protein phosphatase 2A
UniProtKB/Swiss-Prot Function:
Directs the termination of nascent peptide synthesis (translation) in response to the termination codons UAA, UAG and UGA. 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.

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 HDA,TAS 22658674
GO:0003747 translation release factor activity TAS,IEA 15326224
GO:0005515 protein binding IPI 9620853
GO:0008079 translation termination factor activity TAS 10413110
GO:0043022 ribosome binding TAS 12867083
genes like me logo Genes that share ontologies with ETF1: view
genes like me logo Genes that share phenotypes with ETF1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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 5
peroxisome 2
nucleus 2

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 --
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 TAS --
GO:0006412 translation IEA --
GO:0006415 translational termination IEA,TAS --
GO:0006449 regulation of translational termination TAS 7990965
GO:0006479 protein methylation IDA 18539146
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

Unigene Clusters for ETF1 Gene

Eukaryotic translation termination factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
ETF1

Expression for ETF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ETF1 Gene



Protein tissue co-expression partners for ETF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ETF1 Gene:

ETF1

SOURCE GeneReport for Unigene cluster for ETF1 Gene:

Hs.483494

Evidence on tissue expression from TISSUES for ETF1 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Blood(4.4)
genes like me logo Genes that share expression patterns with ETF1: view

Primer Products

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 33 34
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia ETF1 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ETF1 33 34 34
  • 96.64 (n)
cow
(Bos Taurus)
Mammalia ETF1 33 34
  • 96.57 (n)
rat
(Rattus norvegicus)
Mammalia Etf1 33
  • 95.04 (n)
mouse
(Mus musculus)
Mammalia Etf1 33 16 34
  • 94.97 (n)
chicken
(Gallus gallus)
Aves ETF1 33 34
  • 88.86 (n)
lizard
(Anolis carolinensis)
Reptilia ETF1 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etf1 33
  • 84.36 (n)
MGC75958 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3333 33
zebrafish
(Danio rerio)
Actinopterygii etf1 33 33 34
  • 79.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010310 33
  • 71.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta eRF1 35 33 34
  • 71.02 (n)
worm
(Caenorhabditis elegans)
Secernentea T05H4.6a 35
  • 80 (a)
T05H4.6b 35
  • 80 (a)
etf-1 33 34
  • 71.93 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11231g 33
  • 67.06 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUP45 33 34 36
  • 66.04 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER028C 33
  • 63.57 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ERF1-1 33
  • 65.65 (n)
soybean
(Glycine max)
eudicotyledons Gma.18085 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8098 33
rice
(Oryza sativa)
Liliopsida Os01g0939500 33
  • 66.74 (n)
Os.7009 33
barley
(Hordeum vulgare)
Liliopsida Hv.3060 33
wheat
(Triticum aestivum)
Liliopsida Ta.5741 33
corn
(Zea mays)
Liliopsida Zm.13318 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7901 34
  • 84 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00410 33
  • 66.12 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sup45 33
  • 61.97 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4884 33
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)

Paralogs for ETF1 Gene

No data available for Paralogs for ETF1 Gene

Variants for ETF1 Gene

Sequence variations from dbSNP and Humsavar for ETF1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000035316 -- 138,523,937(-) G/A intron_variant
rs1000040215 -- 138,522,909(-) G/A intron_variant
rs1000327808 -- 138,540,839(-) G/A intron_variant
rs1000333879 -- 138,533,863(-) G/A intron_variant
rs1000506638 -- 138,544,757(-) T/C upstream_transcript_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETF1 Gene

Disorders for ETF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ETF1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
myeloid tumor suppressor
  • myeloid leukemia-related locus; mlrl
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  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 58
  4. SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay. (PMID: 19417104) Yamashita A … Ohno S (Genes & development 2009) 4 22 58
  5. Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways. (PMID: 18256688) Ivanov PV … Kulozik AE (The EMBO journal 2008) 3 22 58

Products for ETF1 Gene

Sources for ETF1 Gene

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