U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    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_001130006.2NP_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:209633
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
      pfam07145
      Location:6581
      PAM2; Ataxin-2 C-terminal region
    2. NM_001130007.2NP_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:72496
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
    3. NM_002094.4NP_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:210634
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
      pfam07145
      Location:6481
      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_047434035.1XP_047289991.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X3

      UniProtKB/TrEMBL
      A8K2W7, B2RCT6
    2. XM_047434034.1XP_047289990.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X2

      UniProtKB/TrEMBL
      A8K2W7, B2RCT6
    3. XM_047434033.1XP_047289989.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X1

      UniProtKB/TrEMBL
      A8K2W7, B2RCT6

    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_054380181.1XP_054236156.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X3

      UniProtKB/TrEMBL
      A8K2W7, B2RCT6
    2. XM_054380180.1XP_054236155.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X2

      UniProtKB/TrEMBL
      A8K2W7, B2RCT6
    3. XM_054380179.1XP_054236154.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform X1

      UniProtKB/TrEMBL
      A8K2W7, B2RCT6