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

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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional Activity of Isoform 2 of Human eRF1.
Title: Functional Activity of Isoform 2 of Human eRF1.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_10157-10158:1001527603:1 (e-PCR)
- UniSTS:267054

D5S500 (e-PCR), detects polymorphism
- UniSTS:9319

RH80626 (e-PCR)
- UniSTS:92799

RH79934 (e-PCR)
- UniSTS:85395

D5S500 (e-PCR), detects polymorphism
- UniSTS:34514

RH41003 (e-PCR)
- UniSTS:89590

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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)

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]
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]
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]
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]
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]
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

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

138506095..138543236 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047416932.1 → XP_047272888.1 eukaryotic peptide chain release factor subunit 1 isoform X3
XM_047416930.1 → XP_047272886.1 eukaryotic peptide chain release factor subunit 1 isoform X1

UniProtKB/Swiss-Prot

B2R6B4, D3DQC1, P46055, P62495, Q5M7Z7, Q96CG1
XM_047416931.1 → XP_047272887.1 eukaryotic peptide chain release factor subunit 1 isoform X2