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

    Gene ID: 2107, updated on 22-Sep-2016
    Official Symbol
    ETF1provided by HGNC
    Official Full Name
    eukaryotic translation termination factor 1provided by HGNC
    Primary source
    HGNC:HGNC:3477
    See related
    Ensembl:ENSG00000120705 HPRD:02616; MIM:600285; Vega:OTTHUMG00000129199
    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]
    Orthologs
    Location:
    5q31.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 63 Neighboring gene uncharacterized LOC105379193

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog

    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

    • 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 ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC111066

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ribosome binding TAS
    Traceable Author Statement
    more info
    PubMed 
    translation release factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    translation release factor activity, codon specific IEA
    Inferred from Electronic Annotation
    more info
     
    translation termination factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    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 
    translational termination TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    NOT nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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_001256302.1NP_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 and 5 encode the same isoform 2.
      Source sequence(s)
      AC113403, AW131045, BC014269, DB060174
      Consensus CDS
      CCDS75313.1
      UniProtKB/Swiss-Prot
      P62495
      Related
      ENSP00000421288, OTTHUMP00000224067, ENST00000499810, OTTHUMT00000373726
      Conserved Domains (4) summary
      COG1503
      Location:1386
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
      pfam03463
      Location:1103
      eRF1_1; eRF1 domain 1
      pfam03464
      Location:112244
      eRF1_2; eRF1 domain 2
      pfam03465
      Location:247384
      eRF1_3; eRF1 domain 3
    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, OTTHUMP00000224068, ENST00000503014, OTTHUMT00000373727
      Conserved Domains (4) summary
      COG1503
      Location:14405
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
      pfam03463
      Location:13122
      eRF1_1; eRF1 domain 1
      pfam03464
      Location:131263
      eRF1_2; eRF1 domain 2
      pfam03465
      Location:266403
      eRF1_3; eRF1 domain 3
    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 and 5 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 (4) summary
      COG1503
      Location:1386
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
      pfam03463
      Location:1103
      eRF1_1; eRF1 domain 1
      pfam03464
      Location:112244
      eRF1_2; eRF1 domain 2
      pfam03465
      Location:247384
      eRF1_3; eRF1 domain 3
    4. NM_001291975.1NP_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 and 5 encode the same isoform 2.
      Source sequence(s)
      AL553004, AW131045, BC014269, BM819293, DB060174
      Consensus CDS
      CCDS75313.1
      UniProtKB/Swiss-Prot
      P62495
      Conserved Domains (4) summary
      COG1503
      Location:1386
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
      pfam03463
      Location:1103
      eRF1_1; eRF1 domain 1
      pfam03464
      Location:112244
      eRF1_2; eRF1 domain 2
      pfam03465
      Location:247384
      eRF1_3; eRF1 domain 3
    5. NM_004730.3NP_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, OTTHUMP00000159485, ENST00000360541, OTTHUMT00000251276
      Conserved Domains (4) summary
      COG1503
      Location:11419
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
      pfam03463
      Location:18136
      eRF1_1; eRF1 domain 1
      pfam03464
      Location:145277
      eRF1_2; eRF1 domain 2
      pfam03465
      Location:280417
      eRF1_3; eRF1 domain 3

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      138506093..138543300 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009221.1XP_016864710.1  

      Conserved Domains (4) summary
      COG1503
      Location:11367
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
      pfam03463
      Location:18136
      eRF1_1; eRF1 domain 1
      pfam03464
      Location:145277
      eRF1_2; eRF1 domain 2
      pfam03465
      Location:280365
      eRF1_3; eRF1 domain 3
    2. XM_017009222.1XP_016864711.1  

    3. XM_005271921.1XP_005271978.1  

      See identical proteins and their annotated locations for XP_005271978.1

      UniProtKB/Swiss-Prot
      P62495
      Conserved Domains (4) summary
      COG1503
      Location:1386
      eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]
      pfam03463
      Location:1103
      eRF1_1; eRF1 domain 1
      pfam03464
      Location:112244
      eRF1_2; eRF1 domain 2
      pfam03465
      Location:247384
      eRF1_3; eRF1 domain 3

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      137274606..137311379 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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