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    GSPT1 G1 to S phase transition 1 [ Homo sapiens (human) ]

    Gene ID: 2935, updated on 3-Nov-2024

    Summary

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    Official Symbol
    GSPT1provided by HGNC
    Official Full Name
    G1 to S phase transition 1provided by HGNC
    Primary source
    HGNC:HGNC:4621
    See related
    Ensembl:ENSG00000103342 MIM:139259; AllianceGenome:HGNC:4621
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GST1; ETF3A; eRF3a; 551G9.2
    Summary
    Enables GTPase activity and translation release factor activity. Involved in regulation of translational termination and translational termination. Acts upstream of or within protein methylation. Part of translation release factor complex. Is active in cytosolic ribosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 16.3), colon (RPKM 15.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GSPT1 in Genome Data Viewer
    Location:
    16p13.13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (11868128..11916654, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (11904164..11952697, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (11961985..12010511, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11915504-11916004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11916005-11916505 Neighboring gene breast cancer anti-estrogen resistance 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:11932294-11932479 Neighboring gene ribosomal L1 domain containing 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:11944561-11945760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11946068-11946601 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7212 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:12009257-12010194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:12011253-12011753 Neighboring gene nuclear pore complex interacting protein family member B2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10462 Neighboring gene TNF receptor superfamily member 17 Neighboring gene ubiquitin like 5 pseudogene 4

    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 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?
    1. Potential of GSPT1 as a novel target for glioblastoma therapy.
      Title: Potential of GSPT1 as a novel target for glioblastoma therapy.
    2. MicroRNA-508-3p regulates the proliferation of human lung cancer cells by targeting G1 to S phase transition 1 (GSPT1) protein.
      Title: MicroRNA-508-3p regulates the proliferation of human lung cancer cells by targeting G1 to S phase transition 1 (GSPT1) protein.
    3. GSPT1 Functions as a Tumor Promoter in Human Liver Cancer.
      Title: GSPT1 Functions as a Tumor Promoter in Human Liver Cancer.
    4. Vimentin binds to a novel tumor suppressor protein, GSPT1-238aa, encoded by circGSPT1 with a selective encoding priority to halt autophagy in gastric carcinoma.
      Title: Vimentin binds to a novel tumor suppressor protein, GSPT1-238aa, encoded by circGSPT1 with a selective encoding priority to halt autophagy in gastric carcinoma.
    5. Identification of GSPT1 as prognostic biomarker and promoter of malignant colon cancer cell phenotypes via the GSK-3beta/CyclinD1 pathway.
      Title: Identification of GSPT1 as prognostic biomarker and promoter of malignant colon cancer cell phenotypes via the GSK-3β/CyclinD1 pathway.
    6. miR-27b-3p suppresses gastric cancer cell proliferation, invasion, and migration via negative expression regulation of GSPT1.
      Title: Downregulation of microRNA-27b-3p via aberrant DNA methylation contributes to malignant behavior of gastric cancer cells by targeting GSPT1.
    7. Data show that G1 to S phase transition 1 protein (GSPT1)-rs33635C was a predictor for lamivudine (LAM) therapy.
      Title: Role of GSPT1 and GSPT2 polymorphisms in different outcomes upon Hepatitis B virus infection and prognosis to lamivudine therapy.
    8. miR-144 was found to be down-regulated in gastric cancer tissues while GSPT1 expression level was markedly increased; GSPT1 was a direct target of miR-144.
      Title: The role of miR-144/GSPT1 axis in gastric cancer.
    9. PABP enhances the productive binding of the eRF1-eRF3 complex to the ribosome, via interactions with the N-terminal domain of eRF3a which itself has an active role in translation termination.
      Title: PABP enhances release factor recruitment and stop codon recognition during translation termination.
    10. Data found that the N-terminal glycine repeat of eRF3a influences eRF3a-PABP interaction and that eRF3a 12-GGC allele has a decreased binding affinity for PABP.
      Title: Studies on human eRF3-PABP interaction reveal the influence of eRF3a N-terminal glycin repeat on eRF3-PABP binding affinity and the lower affinity of eRF3a 12-GGC allele involved in cancer susceptibility.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38048, FLJ39067

    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 GTPase activity TAS
    Traceable Author Statement
    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 
    enables translation release factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 
    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 cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in cytosolic ribosome 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 GTP-binding subunit ERF3A
    Names
    G1 to S phase transition protein 1 homolog
    eukaryotic peptide chain release factor subunit 3a
    eukaryotic release factor 3a

    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_001130006.2 → NP_001123478.2  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in an internal exon, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AC007216
      Consensus CDS
      CCDS45413.1
      UniProtKB/TrEMBL
      B4DQM6
      Related
      ENSP00000408399.2, ENST00000439887.6
      Conserved Domains (2) summary
      COG5256
      Location:209 → 633
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
      pfam07145
      Location:65 → 81
      PAM2; Ataxin-2 C-terminal region

    2. NM_001130007.2 → NP_001123479.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform 3

      See identical proteins and their annotated locations for NP_001123479.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. The resulting isoform (3) is shorter at the N-terminal, compared to isoform 1.
      Source sequence(s)
      AC007216, AK315267, BM666324, BT006722
      Consensus CDS
      CCDS45414.1
      UniProtKB/Swiss-Prot
      J3KQG6, P15170, Q96GF2
      UniProtKB/TrEMBL
      A8K2W7, B2RCT6
      Related
      ENSP00000399539.2, ENST00000420576.6
      Conserved Domains (1) summary
      COG5256
      Location:72 → 496
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]

    3. NM_002094.4 → NP_002085.3  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC007216
      Consensus CDS
      CCDS45412.1
      Related
      ENSP00000398131.2, ENST00000434724.7
      Conserved Domains (2) summary
      COG5256
      Location:210 → 634
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
      pfam07145
      Location:64 → 81
      PAM2; Ataxin-2 C-terminal region

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      11868128..11916654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434035.1 → XP_047289991.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X3

    2. XM_047434034.1 → XP_047289990.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X2

    3. XM_047434033.1 → XP_047289989.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      11904164..11952697 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380181.1 → XP_054236156.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X3

    2. XM_054380180.1 → XP_054236155.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X2

    3. XM_054380179.1 → XP_054236154.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15170.1 GenPept UniProtKB/Swiss-Prot:P15170

    Gene LinkOut

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

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