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GSPT1 Gene

protein-coding   GIFtS: 65
GCID: GC16M011961

G1 To S Phase Transition 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
G1 To S Phase Transition 11 2     ETF3A2
Eukaryotic Peptide Chain Release Factor Subunit 3a2 3     GST12
eRF3a2 3     Eukaryotic Peptide Chain Release Factor GTP-Binding Subunit ERF3A2
G1 To S Phase Transition Protein 1 Homolog2 3     ERF3A3
551G9.22     

External Ids:    HGNC: 46211   Entrez Gene: 29352   Ensembl: ENSG000001033427   OMIM: 1392595   UniProtKB: P151703   

Export aliases for GSPT1 gene to outside databases

Previous GC identifers: GC16M011749 GC16M012118 GC16M011932 GC16M011874 GC16M011878


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GSPT1 Gene:
GSPT1 (G1 to S phase transition 1) is a protein-coding gene. Diseases associated with GSPT1 include kaposi's sarcoma, and sarcoma. GO annotations related to this gene include translation release factor activity and GTP binding. An important paralog of this gene is GSPT2.

UniProtKB/Swiss-Prot: ERF3A_HUMAN, P15170
Function: Involved in translation termination in response to the termination codons UAA, UAG and UGA. Stimulates
the activity of ERF1. Involved in regulation of mammalian cell growth. Component of the transient SURF complex
which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing
premature stop codons

Gene Wiki entry for GSPT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GSPT1 gene promoter:
         p53   XBP-1   IRF-1   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): GSPT1 promoter sequence
   Search Chromatin IP Primers for GSPT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GSPT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.1   Ensembl cytogenetic band:  16p13.13   HGNC cytogenetic band: 16p13.1

GSPT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GSPT1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M011961:  view genomic region     (about GC identifiers)

Start:
11,961,985 bp from pter      End:
12,010,519 bp from pter
Size:
48,535 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ERF3A_HUMAN, P15170 (See protein sequence)
Recommended Name: Eukaryotic peptide chain release factor GTP-binding subunit ERF3A  
Size: 499 amino acids; 55756 Da
Subunit: Component of the transient SURF (SMG1-UPF1-eRF1-eRF3) complex
Caution: eRF3 antibodies used in PubMed:19417104 do not differentiate between GSPT1/ERF3A and GSPT2/ERF3B
3 PDB 3D structures from and Proteopedia for GSPT1:
3E1Y (3D)        3J5Y (3D)        3KUI (3D)    
Secondary accessions: J3KQG6 Q96GF2
Alternative splicing: 3 isoforms:  P15170-1   P15170-2   P15170-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for GSPT1: NX_P15170

Explore proteomics data for GSPT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys196, Lys490
  • Modification sites at PhosphoSitePlus

  • See GSPT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001123478.1  NP_001123479.1  NP_002085.2  

    ENSEMBL proteins: 
     ENSP00000398131   ENSP00000408399   ENSP00000456057   ENSP00000454351   ENSP00000399539  
     ENSP00000456897   ENSP00000454538  

    GSPT1 Human Recombinant Protein Products:

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    Novus Biologicals GSPT1 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for GSPT1

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    LSBio Antibodies in human, mouse, rat for GSPT1

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    Cloud-Clone Corp. CLIAs for GSPT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR000795 EF_GTP-bd_dom
     IPR004160 Transl_elong_EFTu/EF1A_C
     IPR004161 Transl_elong_EFTu/EF1A_2
     IPR009000 Transl_B-barrel
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P15170

    ProtoNet protein and cluster: P15170

    1 Blocks protein domain: IPB004160 Elongation factor Tu

    UniProtKB/Swiss-Prot: ERF3A_HUMAN, P15170
    Similarity: Belongs to the GTP-binding elongation factor family. ERF3 subfamily


    GSPT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERF3A_HUMAN, P15170
    Function: Involved in translation termination in response to the termination codons UAA, UAG and UGA. Stimulates
    the activity of ERF1. Involved in regulation of mammalian cell growth. Component of the transient SURF complex
    which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing
    premature stop codons

         Genatlas biochemistry entry for GSPT1:
    peptide chain factor release 3,interacting with and stimulating ERF1,controlled stop-codon directed
    release,mapping at the FRA16A locus

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003747translation release factor activity IMP15326224
    GO:0003924GTPase activity TAS15326224
    GO:0005515protein binding IPI12489690
    GO:0005525GTP binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    GSPT1 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for GSPT1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  G0/1 arrest 
     Increased G1 DNA content  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GSPT1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GSPT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GSPT1

    miRNA
    Products:
        
    miRTarBase miRNAs that target GSPT1:
    hsa-mir-183-5p (MIRT047129), hsa-mir-361-5p (MIRT044090), hsa-let-7b-5p (MIRT032238)

    Block miRNA regulation of human, mouse, rat GSPT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GSPT1 (see all 71):
    hsa-miR-579 hsa-miR-3678-3p hsa-miR-607 hsa-miR-4272 hsa-miR-128 hsa-miR-3138 hsa-miR-342-3p hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidGSPT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GSPT1
    Predesigned siRNA for gene silencing in human, mouse, rat GSPT1

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for GSPT1 (see all 21)
    OriGene ORF clones in mouse, rat for GSPT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): GSPT1 (NM_002094)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GSPT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSPT1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for GSPT1
    Browse ESI BIO Cell Lines and PureStem Progenitors for GSPT1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSPT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular NAS15326224

    GSPT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GSPT1 About    
    See pathways by source

    SuperPathContained pathways About
    1mRNA surveillance pathway
    mRNA surveillance pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for GSPT1):
        mRNA surveillance pathway


    GSPT1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GSPT1
    Interactions:

        GeneGlobe Interaction Network for GSPT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GSPT1 (P151701, 2, 3 ENSP000003981314) via UniProtKB, MINT, STRING, and/or I2D (see all 845)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETF1P624951, 2, 3, ENSP000003537414EBI-948993,EBI-1047744 MINT-7945693 MINT-6539807 MINT-6539753 I2D: score=3 STRING: ENSP00000353741
    RANBP2P497922, 3MINT-7945693 I2D: score=2 
    UPF1Q929001, 2, 3, ENSP000002628034EBI-948993,EBI-373471 MINT-6539771 MINT-6539822 MINT-7945693 MINT-6539753 I2D: score=1 STRING: ENSP00000262803
    PABPC1P119402, 3, ENSP000003130074MINT-6539792 MINT-7945693 I2D: score=3 STRING: ENSP00000313007
    ATXN1P542532, 3, ENSP000002447694MINT-2859396 I2D: score=2 STRING: ENSP00000244769
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle TAS2511002
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS15326224
    GO:0006184GTP catabolic process TAS15326224
    GO:0006415translational termination IMP15326224
    GO:0006479protein methylation IDA18539146

    GSPT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GSPT1 (ERF3A)

    1 HMDB Compound for GSPT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 DrugBank Compound for GSPT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Guanosine-5'-Diphosphate-- 146-91-8target--10592235



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GSPT1 gene (3 alternative transcripts): 
    NM_001130006.1  NM_001130007.1  NM_002094.3  

    Unigene Cluster for GSPT1:

    G1 to S phase transition 1
    Hs.528780  [show with all ESTs]
    Unigene Representative Sequence: NM_001130007
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434724(uc002dbu.3 uc002dbt.3 uc010bux.3) ENST00000439887
    ENST00000565267 ENST00000563468 ENST00000420576 ENST00000564790 ENST00000562794
    ENST00000568849 ENST00000567631 ENST00000562169
    miRNA
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    Block miRNA regulation of human, mouse, rat GSPT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GSPT1 (see all 71):
    hsa-miR-579 hsa-miR-3678-3p hsa-miR-607 hsa-miR-4272 hsa-miR-128 hsa-miR-3138 hsa-miR-342-3p hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidGSPT1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GSPT1
    Predesigned siRNA for gene silencing in human, mouse, rat GSPT1
    Clone
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    OriGene ORF clones in mouse, rat for GSPT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): GSPT1 (NM_002094)
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    Primer
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    OriGene qPCR primer pairs and template standards for GSPT1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GSPT1
      QuantiTect SYBR Green Assays in human, mouse, rat GSPT1
      QuantiFast Probe-based Assays in human, mouse, rat GSPT1

    Additional mRNA sequence: 

    AK095367.1 AK095483.1 AK096386.1 AK290382.1 AK315267.1 BC008391.1 BC009503.2 BT006722.1 
    X17644.1 

    22 DOTS entries:

    DT.454604  DT.99988904  DT.100683056  DT.446626  DT.97847629  DT.95135414  DT.120689640  DT.120689662 
    DT.97847628  DT.120689743  DT.309978  DT.86845343  DT.101976268  DT.91695202  DT.91758716  DT.95135409 
    DT.120689650  DT.120689654  DT.91758717  DT.95114873  DT.95135413  DT.91851060 

    Selected AceView cDNA sequences (see all 512):

    BU182937 CF136699 AA811715 BM696782 AA039996 BM479187 CB161307 AA620657 
    Z33579 AI040556 AA962601 N72061 AI460367 BE872397 CB160074 AL598423 
    BU735296 AU120960 AA112361 BQ574806 BQ775115 AW630332 BQ884309 AW304874 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GSPT1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:        -                                         -                                                         
    SP2:        -                                         -                                                         
    SP3:                                                                                                            
    SP4:                                                                                                            


    ECgene alternative splicing isoforms for GSPT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GSPT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAATAAAAT
    GSPT1 Expression
    About this image


    GSPT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    GSPT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GSPT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.528780
        Custom PCR Arrays for GSPT1
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat GSPT1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSPT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GSPT1 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gspt11 , 5 G1 to S phase transition 11, 5 91.75(n)1
    95.25(a)1
      16 (6.38 cM)5
    148521  NM_001130008.11  NP_001123480.11 
     112192925 
    chicken
    (Gallus gallus)
    Aves GSPT11 G1 to S phase transition 1 83.88(n)
    89.44(a)
      768522  NM_001135677.1  NP_001129149.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    94(a)
    1 → many
    GL343580.1(1061-19401)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.78102 Xenopus laevis (clone XLSUP35) SUP35 mRNA, 3' end of more 82.54(n)    L37045.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gspt12 G1 to S phase transition 1 76.76(n)   325284  BC053244.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Elf1 , 3 translational termination translation
    termination more3
    Ef1alpha-like factor1
    74(a)3
    63.78(n)1
    71.67(a)1
      346581  NM_001273486.11  NP_001260415.11 
    worm
    (Caenorhabditis elegans)
    Secernentea H19N07.13 elongation factor 59(a)   V(11113044-11115666)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SUP351 SUP35 60.69(n)
    57.78(a)
      851752   NP_010457.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G180701 AT1G18070 60.27(n)
    58.78(a)
      838387  NM_001198097.1  NP_001185026.1 
    rice
    (Oryza sativa)
    Liliopsida Os.169252 Oryza sativa (japonica cultivar-group) cDNA clone0 more 74.51(n)    AK105823.1 


    ENSEMBL Gene Tree for GSPT1 (if available)
    TreeFam Gene Tree for GSPT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GSPT1 gene
    GSPT22  HBS1L2  
    7 SIMAP similar genes for GSPT1 using alignment to 4 protein entries:     ERF3A_HUMAN (see all proteins):
    GSPT2    EEF1A1    HBS1L    EEF1A2    EEF1A1P5    EEF1A1L14
    PTI-1

    GSPT1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GSPT1
    PGOHUM00000242886


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GSPT1 (see all 1162)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs4563251,2
    C,F,O,A,H--11929145(-) ACTCTG/CCTAAT 1 -- us2k117Minor allele frequency- C:0.38MN EA NA NS WA 1190
    rs1860173721,2
    --11929157(+) TCCTTC/TTGCCT 1 -- us2k10--------
    rs1894273411,2
    --11961585(+) GCACAC/TTGAAT 3 -- int10--------
    rs1402955321,2
    C--11961659(+) AGTTC-/TAATAATA 3 -- int10--------
    rs104927661,2
    C,F,H--11961672(-) GAAACG/ATCAAT 3 -- int123Minor allele frequency- A:0.07NS NA EA WA 1814
    rs1996392241,2
    --11961722(+) TCTAG-/TTAT  
            
    TTATT
    3 -- int10--------
    rs336601,2
    C,F,O,A,H--11961858(-) TAATAG/AGCTCT 3 -- int138Minor allele frequency- A:0.40NA EA NS WA CSA 3086
    rs1395138321,2
    --11961976(+) CAAACA/GACAAA 3 -- int10--------
    rs1810735251,2
    --11962118(+) TACAAA/CTCGTA 3 -- ut310--------
    rs1846323431,2
    --11962121(+) AAATCA/GTAAGA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for GSPT1 (11961985 - 12010519 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for GSPT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2713982CNV Deletion23290073
    esv2651942CNV Deletion19546169
    esv2343500CNV Deletion18987734
    esv7500CNV Loss19470904
    nsv1735CNV Loss18451855
    nsv519892CNV Loss19592680
    nsv524025CNV Loss19592680
    nsv905347CNV Gain21882294

    Human Gene Mutation Database (HGMD): GSPT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GSPT1
    DNA2.0 Custom Variant and Variant Library Synthesis for GSPT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 139259    OMIM disorders: --

    12 diseases for GSPT1:    
    About MalaCards
    kaposi's sarcoma    sarcoma    tonsillitis    ataxia
    schizophrenia    tuberculosis    thyroiditis    breast cancer
    malaria    cerebritis    prostatitis    endotheliitis


    GSPT1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GSPT1

    Export disorders for GSPT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GSPT1 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with GSPT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human homologue of the yeast GST1 gene codes for a GTP-binding protein and is expressed in a proliferation-dependent manner in mammalian cells. (PubMed id 2511002)1, 2, 3 Hoshino S.... Ui M. (EMBO J. 1989)
    2. Molecular basis of eRF3 recognition by the MLLE domain of poly(A)- binding protein. (PubMed id 20418951)1, 2 Kozlov G. and Gehring K. (PLoS ONE 2010)
    3. SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay. (PubMed id 19417104)1, 2 Yamashita A.... Ohno S. (Genes Dev. 2009)
    4. G1 to S phase transition protein 1 induces apoptosis signal-regulating kinase 1 activation by dissociating 14-3-3 from ASK1. (PubMed id 17700517)1, 3 Lee J.A....Cho S. (Oncogene 2008)
    5. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)1, 2 Loftus B.J.... Adams M.D. (Genomics 1999)
    6. Human eukaryotic release factor 3a depletion causes cell cycle arrest at G1 phase through inhibition of the mTOR pathway. (PubMed id 17562865)1, 9 Chauvin C.... Jean-Jean O. (Mol. Cell. Biol. 2007)
    7. Involvement of human release factors eRF3a and eRF3b in translation termination and regulation of the termination complex formation. (PubMed id 15987998)1, 9 Chauvin C....Jean-Jean O. (Mol. Cell. Biol. 2005)
    8. Differential expression of GSPT1 GGCn alleles in cancer. (PubMed id 19963113)1, 9 Malta-Vacas J....Brito M. (Cancer Genet. Cytogenet. 2009)
    9. The polypeptide chain-releasing factor GSPT1/eRF3 is proteolytically processed into an IAP-binding protein. (PubMed id 12865429)1, 9 Hegde R....Alnemri E.S. (J. Biol. Chem. 2003)
    10. Mapping of the human GSPT1 gene, a human homolog of the yeast GST1 gene, to chromosomal band 16p13.1. (PubMed id 1574740)1, 9 Ozawa K....Hanaoka F. (Somat. Cell Mol. Genet. 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2935 HGNC: 4621 AceView: GSPT1 Ensembl:ENSG00000103342 euGenes: HUgn2935
    ECgene: GSPT1 Kegg: 2935 H-InvDB: GSPT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GSPT1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GSPT1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GSPT1 gene:
    Search GeneIP for patents involving GSPT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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