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

    Gene ID: 23708, updated on 3-Nov-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
    all
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    Genomic context

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    See GSPT2 in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (51743442..51746232)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (51015099..51017889)
    RS_2024_09 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. Involvement of human release factors eRF3a and eRF3b in translation termination and regulation of the termination complex formation. Chauvin C, et al. Mol Cell Biol, 2005 Jul. PMID 15987998, Free PMC Article
    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. Mouse GSPT2, but not GSPT1, can substitute for yeast eRF3 in vivo. Le Goff C, et al. Genes Cells, 2002 Oct. PMID 12354098

    See all (57) 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 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_2024_08

    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

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

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