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    ETF1 eukaryotic translation termination factor 1 [ Homo sapiens (human) ]

    Gene ID: 2107, updated on 15-Jun-2019

    Summary

    Official Symbol
    ETF1provided by HGNC
    Official Full Name
    eukaryotic translation termination factor 1provided by HGNC
    Primary source
    HGNC:HGNC:3477
    See related
    Ensembl:ENSG00000120705 MIM:600285
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ERF; RF1; ERF1; TB3-1; D5S1995; SUP45L1
    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 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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 46.6), esophagus (RPKM 37.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See ETF1 in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (138506093..138543300, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137841782..137878989, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene early growth response 1 Neighboring gene ribosomal protein L7 pseudogene 19 Neighboring gene heat shock protein family A (Hsp70) member 9 Neighboring gene small nucleolar RNA, C/D box 63B Neighboring gene small nucleolar RNA, C/D box 63

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of eukaryotic translation termination factor 1 (ETF1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Gag-Pol gag-pol The depletion of eRF1 modulates HIV-1 programmed -1 ribosomal frameshifting (PRF), leading to the increase of the Gag-Pol to Gag ratio in cells infected with replication-competent virus PubMed
    Pr55(Gag) gag The depletion of eRF1 modulates HIV-1 programmed -1 ribosomal frameshifting (PRF), leading to the increase of the Gag-Pol to Gag ratio in cells infected with replication-competent virus PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Eukaryotic Translation Termination, organism-specific biosystem (from REACTOME)
      Eukaryotic Translation Termination, organism-specific biosystemThe arrival of any of the three stop codons (UAA, UAG and UGA) into the ribosomal A-site triggers the binding of a release factor (RF) to the ribosome and subsequent polypeptide chain release. In euk...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC), organism-specific biosystem (from REACTOME)
      Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC), organism-specific biosystemDuring normal translation termination eRF3 associates with the ribosome and then interacts with PABP bound to the polyadenylate tail of the mRNA to release the ribosome and allow a new round of trans...
    • Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC), organism-specific biosystem (from REACTOME)
      Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC), organism-specific biosystemNonsense-mediated decay has been observed with mRNAs that do not have an exon junction complex (EJC) downstream of the termination codon (reviewed in Isken and Maquat 2007, Chang et al. 2007, Behm-An...
    • Nonsense-Mediated Decay (NMD), organism-specific biosystem (from REACTOME)
      Nonsense-Mediated Decay (NMD), organism-specific biosystemThe Nonsense-Mediated Decay (NMD) pathway activates the destruction of mRNAs containing premature termination codons (PTCs) (reviewed in Isken and Maquat 2007, Chang et al. 2007, Behm-Ansmant et al. ...
    • Translation, organism-specific biosystem (from REACTOME)
      Translation, organism-specific biosystemProtein synthesis is accomplished through the process of translation of an mRNA sequence into a polypeptide chain. This process can be divided into three distinct stages: initiation, elongation and ...
    • Translation Factors, organism-specific biosystem (from WikiPathways)
      Translation Factors, organism-specific biosystemProtein synthesis is the ultimate step of gene expression and a key control point for regulation. In particular, it enables cells to rapidly manipulate protein production without new mRNA synthesis, ...
    • mRNA surveillance pathway, organism-specific biosystem (from KEGG)
      mRNA surveillance pathway, organism-specific biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...
    • mRNA surveillance pathway, conserved biosystem (from KEGG)
      mRNA surveillance pathway, conserved biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC111066

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ribosome binding TAS
    Traceable Author Statement
    more info
    PubMed 
    sequence-specific mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sequence-specific mRNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    translation release factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    translation release factor activity, codon specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    translation termination factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    cytoplasmic translational termination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
    Traceable Author Statement
    more info
     
    protein methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of translational termination TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    NOT nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    translation release factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    eukaryotic peptide chain release factor subunit 1
    Names
    polypeptide chain release factor 1
    protein Cl1
    sup45 (yeast omnipotent suppressor 45) homolog-like 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001256302.2NP_001243231.1  eukaryotic peptide chain release factor subunit 1 isoform 2

      See identical proteins and their annotated locations for NP_001243231.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional segment in the 5' region, which causes translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 4, 5, and 6 all encode the same isoform (2).
      Source sequence(s)
      AC113403, AW131045, BC014269, DB060174
      Consensus CDS
      CCDS75313.1
      UniProtKB/Swiss-Prot
      P62495
      Related
      ENSP00000421288.1, ENST00000499810.6
      Conserved Domains (1) summary
      COG1503
      Location:1386
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
    2. NM_001282185.1NP_001269114.1  eukaryotic peptide chain release factor subunit 1 isoform 3

      See identical proteins and their annotated locations for NP_001269114.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC113403, AK302364, AW131045
      Consensus CDS
      CCDS75314.1
      UniProtKB/TrEMBL
      B7Z7P8
      Related
      ENSP00000422203.1, ENST00000503014.5
      Conserved Domains (1) summary
      COG1503
      Location:14405
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
    3. NM_001291974.1NP_001278903.1  eukaryotic peptide chain release factor subunit 1 isoform 2

      See identical proteins and their annotated locations for NP_001278903.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains two alternate 5' terminal exons, which causes translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 4, 5, and 6 all encode the same isoform (2).
      Source sequence(s)
      AK302364, AL553004, AW131045, BC014269, BI460904
      Consensus CDS
      CCDS75313.1
      UniProtKB/Swiss-Prot
      P62495
      UniProtKB/TrEMBL
      B7Z7P8
      Conserved Domains (1) summary
      COG1503
      Location:1386
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
    4. NM_001291975.2NP_001278904.1  eukaryotic peptide chain release factor subunit 1 isoform 2

      See identical proteins and their annotated locations for NP_001278904.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an additional exon in the 5' region, which causes translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 4, 5, and 6 all encode the same isoform (2).
      Source sequence(s)
      AL553004, AW131045, BC014269, BM819293, DB060174
      Consensus CDS
      CCDS75313.1
      UniProtKB/Swiss-Prot
      P62495
      Conserved Domains (1) summary
      COG1503
      Location:1386
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
    5. NM_001364160.2NP_001351089.1  eukaryotic peptide chain release factor subunit 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC011385, AC113403
      Consensus CDS
      CCDS75313.1
      Conserved Domains (1) summary
      COG1503
      Location:1386
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
    6. NM_004730.4NP_004721.1  eukaryotic peptide chain release factor subunit 1 isoform 1

      See identical proteins and their annotated locations for NP_004721.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC113403, AK312510, AW131045, DB060174, U90176
      Consensus CDS
      CCDS4207.1
      UniProtKB/Swiss-Prot
      P62495
      Related
      ENSP00000353741.5, ENST00000360541.10
      Conserved Domains (1) summary
      COG1503
      Location:11419
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]

    RNA

    1. NR_157090.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC011385, AC113403

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      138506093..138543236 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009221.2XP_016864710.1  eukaryotic peptide chain release factor subunit 1 isoform X2

      Conserved Domains (1) summary
      COG1503
      Location:11367
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
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