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

Gene ID: 2107, updated on 11-Jul-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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (138506093..138543236, 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_157090.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011385, AC113403

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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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