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

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

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC111066

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_001282185.2NP_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_001291974.2NP_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
      B2R6B4, D3DQC1, P46055, P62495, Q5M7Z7, Q96CG1
      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: 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_047416932.1XP_047272888.1  eukaryotic peptide chain release factor subunit 1 isoform X3

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

      UniProtKB/Swiss-Prot
      B2R6B4, D3DQC1, P46055, P62495, Q5M7Z7, Q96CG1
    3. XM_047416931.1XP_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_054352046.1XP_054208021.1  eukaryotic peptide chain release factor subunit 1 isoform X3