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GSPT2 G1 to S phase transition 2 [ Homo sapiens (human) ]

Gene ID: 23708, updated on 5-Mar-2024

Summary

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Official Symbol
GSPT2provided by HGNC
Official Full Name
G1 to S phase transition 2provided by HGNC
Primary source
HGNC:HGNC:4622
See related
Ensembl:ENSG00000189369 MIM:300418; AllianceGenome:HGNC:4622
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
GST2; ERF3B
Summary
This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010]
Orthologs
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Genomic context

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Location:
Xp11.22
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (51743442..51746232)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (51015099..51017889)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (51486538..51489328)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene centromere protein V like 2 Neighboring gene centromere protein V like 1 Neighboring gene MAGE family member D1 Neighboring gene zinc finger protein 852 pseudogene Neighboring gene RNA, U6 small nuclear 504, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Evolution of translation termination factor eRF3: is GSPT2 generated by retrotransposition of GSPT1's mRNA? Zhouravleva G, et al. IUBMB Life, 2006 Apr. PMID 16754297
  2. Assignment of the human peptide chain release factor 3 (GSPT2) to Xp11.23-->p11.21 and of the distal marker DXS1039 by radiation hybrid mapping. Hansen LL, et al. Cytogenet Cell Genet, 1999. PMID 10575220
  3. eRF3b-37 inhibits the TGF-β1-induced activation of hepatic stellate cells by regulating cell proliferation, G0/G1 arrest, apoptosis and migration. Xu Z, et al. Int J Mol Med, 2018 Dec. PMID 30272252
  4. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. Grau C, et al. PLoS One, 2017. PMID 28414775, Free PMC Article
  5. eRF3b, a biomarker for hepatocellular carcinoma, influences cell cycle and phosphoralation status of 4E-BP1. Li M, et al. PLoS One, 2014. PMID 24466059, Free PMC Article

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. eRF3b37 is thought to serve a role in hepatic stellate cells by inhibiting TGFbeta signaling.
    Title: eRF3b-37 inhibits the TGF-β1-induced activation of hepatic stellate cells by regulating cell proliferation, G0/G1 arrest, apoptosis and migration.
  2. Loss of GSPT2 and/or MAGED1 function may contribute to the intellectual disability.
    Title: Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
  3. The survivin and eRF3 complex may function in spindle formation and segregation of chromosomes and cytokinesis.
    Title: Polypeptide chain release factor eRF3 is a novel molecular partner of survivin.
  4. The tumor marker eRF3B can change the cell cycle and influence the phosphorylation status of 4E-BP1.
    Title: eRF3b, a biomarker for hepatocellular carcinoma, influences cell cycle and phosphoralation status of 4E-BP1.
  5. The proteolytic cleavage of eRF3a and eRF3b into p-eRF3 leads to release an amino-terminal fragment containing nuclear export signal to allow the relocalization of eRF3 into the nucleus to interact with the p14ARF.
    Title: The processed isoform of the translation termination factor eRF3 localizes to the nucleus to interact with the ARF tumor suppressor.
  6. eRF1's M domain contacts eRF3's GTPase domain
    Title: Structural insights into eRF3 and stop codon recognition by eRF1.
  7. eRF3b can substitute for eRF3a in its translation termination function.
    Title: Involvement of human release factors eRF3a and eRF3b in translation termination and regulation of the termination complex formation.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

  • FLJ10441

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables translation release factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables translation release factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
Inferred from Electronic Annotation
more info
  
involved_in translation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in translational termination IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of translation release factor complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
eukaryotic peptide chain release factor GTP-binding subunit ERF3B
Names
eukaryotic peptide chain release factor subunit 3b

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.

Genomic

  1. NG_016857.1 RefSeqGene

    Range
    5058..7848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018094.5 → NP_060564.2  eukaryotic peptide chain release factor GTP-binding subunit ERF3B

    See identical proteins and their annotated locations for NP_060564.2

    Status: REVIEWED

    Source sequence(s)
    AJ251548, AK001303, BF514488, DB173006
    Consensus CDS
    CCDS14336.1
    UniProtKB/Swiss-Prot
    Q8IYD1, Q9H909, Q9NVY0, Q9NY44
    UniProtKB/TrEMBL
    B4DQM6
    Related
    ENSP00000341247.4, ENST00000340438.6
    Conserved Domains (5) summary
    cd01883
    Location:205 → 421
    EF1_alpha; Elongation Factor 1-alpha (EF1-alpha) protein family
    COG5256
    Location:201 → 625
    TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
    pfam07145
    Location:47 → 64
    PAM2; Ataxin-2 C-terminal region
    cd04089
    Location:430 → 511
    eRF3_II; Domain II of the eukaryotic class II release factor
    cd03704
    Location:517 → 623
    eRF3_C_III; C-terminal domain of eRF3

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    51743442..51746232
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    51015099..51017889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYD1.2 GenPept UniProtKB/Swiss-Prot:Q8IYD1

Gene LinkOut

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