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

Gene ID: 2107, updated on 3-Nov-2024

Summary

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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; AllianceGenome:HGNC:3477
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
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Genomic context

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See ETF1 in Genome Data Viewer
Location:
5q31.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138506095..138543236, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (139032342..139069467, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137841784..137878925, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 pseudogene 19 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137826688-137827381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137827382-137828074 Neighboring gene uncharacterized LOC124901078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137828769-137829460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137859313-137860250 Neighboring gene Sharpr-MPRA regulatory region 2814 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:137878436-137879635 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. [Interface of the interaction of the middle domain of human translation termination factor eRF1 with eukaryotic ribosomes]. Ivanova EV, et al. Mol Biol (Mosk), 2008 Nov-Dec. PMID 19140327
  2. Assignment of the human translation termination factor 1 (ETF1) to 5q31.1 and of the proximal marker D5S1995 by radiation hybrid mapping. Hansen LL, et al. Cytogenet Cell Genet, 1999. PMID 10702684
  3. Eukaryotic translation termination factor gene (ETF1/eRF1) maps at D5S500 in a commonly deleted region of chromosome 5q31 in malignant myeloid diseases. Guenet L, et al. Cytogenet Cell Genet, 2000. PMID 10773672
  4. The polypeptide chain release factor eRF1 specifically contacts the s(4)UGA stop codon located in the A site of eukaryotic ribosomes. Chavatte L, et al. Eur J Biochem, 2001 May. PMID 11358506
  5. The invariant uridine of stop codons contacts the conserved NIKSR loop of human eRF1 in the ribosome. Chavatte L, et al. EMBO J, 2002 Oct 1. PMID 12356746, Free PMC Article

See all (141) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Functional Activity of Isoform 2 of Human eRF1.
    Title: Functional Activity of Isoform 2 of Human eRF1.
  2. A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion.
    Title: A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion.
  3. eRF1 accumulates within elaborate nuclear envelope invaginations in patient induced pluripotent stem cell (iPSC) neurons and postmortem tissue and mediates a protective shift from protein translation to nonsense-mediated decay -dependent mRNA degradation.
    Title: Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity.
  4. We show that knockdown of human XRN1, CNOT6 and ETF1 genes in HepG2 cells led to significant alteration in stability of specific mRNAs, alterations in half-life were inversely associated with transcription rates, mostly not resulting in changes in abundance
    Title: mRNA levels are buffered upon knockdown of RNA decay and translation factors via adjustment of transcription rates in human HepG2 cells.
  5. Report molecular dynamics free energy calculations on termination complexes, where relative eRF1 binding free energies to different cognate and near-cognate codons are evaluated. The simulations show a high and uniform discrimination against the near-cognate codons, that differ from the cognate ones by a single nucleotide, and reveal the structural mechanisms behind the precise decoding by eRF1.
    Title: Origin of the omnipotence of eukaryotic release factor 1.
  6. The GTS loop forms a switch that is key for the multiple codon recognition capability of eRF1.
    Title: Structural characterization of eRF1 mutants indicate a complex mechanism of stop codon recognition.
  7. New information has been presented on architecture of the eRF1 binding site on mammalian ribosome at various translation termination steps and on conformational rearrangements induced by binding of the release factors.
    Title: Chemical footprinting reveals conformational changes of 18S and 28S rRNAs at different steps of translation termination on the human ribosome.
  8. cryo-electron microscopy (cryo-EM) structures at 3.5-3.8 A resolution of ribosomal complexes containing eRF1 interacting with each of the three stop codons in the A-site
    Title: Structural basis for stop codon recognition in eukaryotes.
  9. We characterized a region of the eRF1 N-terminal domain, the P1 pocket, that we had previously shown to be involved in termination efficiency. We identified two residues, arginine 65 and lysine 109, as critical for recognition of the three stop codons.
    Title: New insights into stop codon recognition by eRF1.
  10. C4 lysyl hydroxylation of eRF1 is required for optimal translational termination
    Title: Optimal translational termination requires C4 lysyl hydroxylation of eRF1.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC111066

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables aminoacyl-tRNA hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ribosome binding TAS
Traceable Author Statement
more info
 PubMed 
enables sequence-specific mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sequence-specific mRNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables translation release factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables translation release factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables translation release factor activity, codon specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables translation termination factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables translation termination factor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytoplasmic translational termination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within protein methylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of translational termination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within translational termination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in translational termination IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in cytosolic ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
NOT located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of translation release factor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of translation release factor complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of translation release factor complex IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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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)

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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_001256302.2 → NP_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:1 → 386
    eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]

  2. NM_001282185.2 → NP_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:14 → 405
    eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]

  3. NM_001291974.2 → NP_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:1 → 386
    eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]

  4. NM_001291975.2 → NP_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:1 → 386
    eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]

  5. NM_001364160.2 → NP_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:1 → 386
    eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]

  6. NM_004730.4 → NP_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
    B2R6B4, D3DQC1, P46055, P62495, Q5M7Z7, Q96CG1
    Related
    ENSP00000353741.5, ENST00000360541.10
    Conserved Domains (1) summary
    COG1503
    Location:11 → 419
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    138506095..138543236 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416932.1 → XP_047272888.1  eukaryotic peptide chain release factor subunit 1 isoform X3

  2. XM_047416930.1 → XP_047272886.1  eukaryotic peptide chain release factor subunit 1 isoform X1

    UniProtKB/Swiss-Prot
    B2R6B4, D3DQC1, P46055, P62495, Q5M7Z7, Q96CG1

  3. XM_047416931.1 → XP_047272887.1  eukaryotic peptide chain release factor subunit 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    139032342..139069467 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352046.1 → XP_054208021.1  eukaryotic peptide chain release factor subunit 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P62495.3 GenPept UniProtKB/Swiss-Prot:P62495

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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