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GSPT1 Gene(Protein Coding)

G1 To S Phase Transition 1

GCID:
GC16M011868
GIFtS:
48
Genes Participants
UDN Logo

Aliases for GSPT1 Gene

Aliases for GSPT1 Gene

  • G1 To S Phase Transition 1 2 3 5
  • Eukaryotic Peptide Chain Release Factor Subunit 3a 3 4
  • G1 To S Phase Transition Protein 1 Homolog 3 4
  • ERF3a 3 4
  • Eukaryotic Peptide Chain Release Factor GTP-Binding Subunit ERF3A 3
  • 551G9.2 3
  • ETF3A 3
  • GST1 3

External Ids for GSPT1 Gene

Previous GeneCards Identifiers for GSPT1 Gene

  • GC16M011749
  • GC16M012118
  • GC16M011932
  • GC16M011874
  • GC16M011961
  • GC16M011878

Summaries for GSPT1 Gene

GeneCards Summary for GSPT1 Gene

GSPT1 (G1 To S Phase Transition 1) is a Protein Coding gene. Among its related pathways are Gene Expression and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is GSPT2.

UniProtKB/Swiss-Prot for GSPT1 Gene

  • 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

Additional gene information for GSPT1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSPT1 Gene

Genomics for GSPT1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for GSPT1 Gene

Promoters and enhancers for GSPT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16I011913 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 556.4 +1.2 1223 4.6 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC GSPT1 PIR60564 NPIPB2 LOC105371084 RSL1D1 HNRNPCP4 ENSG00000261560 TNFRSF17 SOCS1 ENSG00000260488
GH16I011904 Promoter 0.6 EPDnew 550.4 +12.4 12449 0.1 POLR2A GC16M011903 COX6CP1 GSPT1 ENSG00000261216
GH16I011344 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 19.3 +571.3 571289 1.8 PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 RMI2 LOC105371083 LOC105371084 ENSG00000261560 GSPT1 ZC3H7A SOCS1 HNRNPCP4 RSL1D1 PRM2
GH16I011251 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.2 +662.0 662033 6.8 HDGF SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B POLR2B SOCS1 RMI2 ENSG00000261560 RSL1D1 LOC105371084 GSPT1 HNRNPCP4 ZC3H7A LOC105371083 LOC105371082
GH16I011833 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.9 +80.6 80643 4.2 PKNOX1 FOXA2 ARID4B FEZF1 ETS1 YY1 TCF12 POLR2B ZNF213 KLF7 GSPT1 NPIPB2 RSL1D1 ENSG00000261560 BCAR4 LOC105371084
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GSPT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GSPT1 gene promoter:

Genomic Locations for GSPT1 Gene

Genomic Locations for GSPT1 Gene
chr16:11,868,128-11,916,662
(GRCh38/hg38)
Size:
48,535 bases
Orientation:
Minus strand
chr16:11,961,985-12,010,519
(GRCh37/hg19)

Genomic View for GSPT1 Gene

Genes around GSPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSPT1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GSPT1 Gene

Proteins for GSPT1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for GSPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15170-ERF3A_HUMAN
    Recommended name:
    Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
    Protein Accession:
    P15170
    Secondary Accessions:
    • J3KQG6
    • Q96GF2

    Protein attributes for GSPT1 Gene

    Size:
    499 amino acids
    Molecular mass:
    55756 Da
    Quaternary structure:
    • Component of the transient SURF (SMG1-UPF1-eRF1-eRF3) complex.

    Three dimensional structures from OCA and Proteopedia for GSPT1 Gene

    Alternative splice isoforms for GSPT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GSPT1 Gene

Protein Expression for GSPT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GSPT1 Gene

  • Ubiquitination at isoforms=374
  • Modification sites at PhosphoSitePlus

Other Protein References for GSPT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GSPT1 Gene

Domains & Families for GSPT1 Gene

Gene Families for GSPT1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GSPT1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GSPT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15170

UniProtKB/Swiss-Prot:

ERF3A_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. ERF3 subfamily.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. ERF3 subfamily.
genes like me logo Genes that share domains with GSPT1: view

Function for GSPT1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for GSPT1 Gene

GENATLAS Biochemistry:
peptide chain factor release 3,interacting with and stimulating ERF1,controlled stop-codon directed release,mapping at the FRA16A locus
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for GSPT1 Gene

Gene Ontology (GO) - Molecular Function for GSPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA,IDA 22658674
GO:0003747 translation release factor activity IMP 15326224
GO:0003924 GTPase activity IEA,TAS 15326224
GO:0005515 protein binding IPI 9620853
genes like me logo Genes that share ontologies with GSPT1: view
genes like me logo Genes that share phenotypes with GSPT1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GSPT1 Gene

Localization for GSPT1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSPT1 gene
Compartment Confidence
cytosol 5
nucleus 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GSPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 15326224
GO:0005829 cytosol TAS --
GO:0018444 translation release factor complex IBA --
genes like me logo Genes that share ontologies with GSPT1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GSPT1 Gene

Pathways & Interactions for GSPT1 Gene

genes like me logo Genes that share pathways with GSPT1: view

Gene Ontology (GO) - Biological Process for GSPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS 2511002
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS 15326224
GO:0002184 cytoplasmic translational termination IBA --
GO:0006412 translation IEA --
GO:0006415 translational termination TAS --
genes like me logo Genes that share ontologies with GSPT1: view

No data available for SIGNOR curated interactions for GSPT1 Gene

Drugs & Compounds for GSPT1 Gene

Products:

  1. Drug

(2) Drugs for GSPT1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with GSPT1: view

Transcripts for GSPT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for GSPT1 Gene

(3) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(512) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GSPT1 Gene

G1 to S phase transition 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GSPT1 Gene

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

Relevant External Links for GSPT1 Gene

GeneLoc Exon Structure for
GSPT1
ECgene alternative splicing isoforms for
GSPT1

Expression for GSPT1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GSPT1 Gene

mRNA expression in normal human tissues for GSPT1 Gene
mRNA expression by GTEx for GSPT1 GenemRNA expression by BioGPS for GSPT1 Gene

Protein differential expression in normal tissues from HIPED for GSPT1 Gene

This gene is overexpressed in Lymph node (11.0), Peripheral blood mononuclear cells (7.4), and Amniocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GSPT1 Gene



Protein tissue co-expression partners for GSPT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GSPT1 Gene:

GSPT1

SOURCE GeneReport for Unigene cluster for GSPT1 Gene:

Hs.528780

Evidence on tissue expression from TISSUES for GSPT1 Gene

  • Lung(4.6)
  • Nervous system(3.8)
  • Intestine(2.9)
genes like me logo Genes that share expression patterns with GSPT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GSPT1 Gene

Orthologs for GSPT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GSPT1 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 98 (a)
 ManyToMany
-- 34
  • 75 (a)
 ManyToMany
chimpanzee
(Pan troglodytes)
 Mammalia GSPT1 34 33
  • 97.49 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia GSPT1 33 34
  • 94.24 (n)
cow
(Bos Taurus)
 Mammalia GSPT1 33 34
  • 94.01 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 94 (a)
 ManyToMany
-- 34
  • 86 (a)
 ManyToMany
mouse
(Mus musculus)
 Mammalia Gspt1 33 16 34
  • 91.75 (n)
rat
(Rattus norvegicus)
 Mammalia Gspt1 33
  • 91.42 (n)
chicken
(Gallus gallus)
 Aves GSPT1 33 34
  • 83.88 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 94 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia gspt1 33
  • 82.45 (n)
Str.3230 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7810 33
zebrafish
(Danio rerio)
 Actinopterygii gspt1l 34
  • 79 (a)
 ManyToMany
gspt1 33 33 34
  • 73.87 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009310 33
  • 64 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Elf 35 33 34
  • 63.78 (n)
worm
(Caenorhabditis elegans)
 Secernentea H19N07.1 35
  • 59 (a)
erfa-3 34
  • 56 (a)
 OneToMany
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D17424g 33
  • 61.32 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SUP35 33 34
  • 60.69 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AGL145W 33
  • 60.46 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G18070 33
  • 60.27 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.1162 33
rice
(Oryza sativa)
 Liliopsida Os04g0270100 33
  • 61.58 (n)
Os.16925 33
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.9703 34
  • 68 (a)
 OneToMany
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes sup35 33
  • 58.45 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU04790 33
  • 58.33 (n)
Species where no ortholog for GSPT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GSPT1 Gene

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

Paralogs for GSPT1 Gene

Paralogs for GSPT1 Gene

(7) SIMAP similar genes for GSPT1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for GSPT1 Gene

genes like me logo Genes that share paralogs with GSPT1: view

Variants for GSPT1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for GSPT1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000010964 -- 11,907,545(-) T/C intron_variant
rs1000027757 -- 11,887,816(-) C/G intron_variant
rs1000094690 -- 11,886,304(-) T/C intron_variant
rs1000114585 -- 11,881,891(-) T/A intron_variant
rs1000166899 -- 11,881,699(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GSPT1 Gene

Variant ID Type Subtype PubMed ID
dgv1298n106 CNV deletion 24896259
esv2343500 CNV deletion 18987734
esv2651942 CNV deletion 19546169
esv2713982 CNV deletion 23290073
esv3553124 CNV deletion 23714750
esv7500 CNV loss 19470904
nsv1043909 CNV gain 25217958
nsv1151765 CNV deletion 26484159
nsv1735 CNV deletion 18451855
nsv519892 CNV loss 19592680
nsv524025 CNV loss 19592680
nsv571458 CNV gain 21841781
nsv958188 CNV deletion 24416366

Variation tolerance for GSPT1 Gene

Residual Variation Intolerance Score: 54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.44; 90.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSPT1 Gene

Human Gene Mutation Database (HGMD)
GSPT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSPT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSPT1 Gene

Disorders for GSPT1 Gene

Additional Disease Information for GSPT1

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GSPT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GSPT1 Gene

Publications for GSPT1 Gene

  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. (PMID: 2511002) Hoshino S … Ui M (The EMBO journal 1989) 2 3 4 58
  2. Molecular basis of eRF3 recognition by the MLLE domain of poly(A)-binding protein. (PMID: 20418951) Kozlov G … Gehring K (PloS one 2010) 3 4 58
  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. (PMID: 19417104) Yamashita A … Ohno S (Genes & development 2009) 3 4 58
  4. eRF3a/GSPT1 12-GGC allele increases the susceptibility for breast cancer development. (PMID: 19424636) Malta-Vacas J … Brito M (Oncology reports 2009) 3 22 58
  5. Differential expression of GSPT1 GGCn alleles in cancer. (PMID: 19963113) Malta-Vacas J … Brito M (Cancer genetics and cytogenetics 2009) 3 22 58

Products for GSPT1 Gene

Sources for GSPT1 Gene

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