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    G3BP1 G3BP stress granule assembly factor 1 [ Homo sapiens (human) ]

    Gene ID: 10146, updated on 7-Apr-2024

    Summary

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    Official Symbol
    G3BP1provided by HGNC
    Official Full Name
    G3BP stress granule assembly factor 1provided by HGNC
    Primary source
    HGNC:HGNC:30292
    See related
    Ensembl:ENSG00000145907 MIM:608431; AllianceGenome:HGNC:30292
    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
    G3BP; HDH-VIII
    Summary
    This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 18.3), appendix (RPKM 16.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q33.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (151771954..151812785)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (152310934..152351769)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (151151515..151192346)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16527 Neighboring gene antioxidant 1 copper chaperone Neighboring gene ATOX1 antisense RNA 1 Neighboring gene uncharacterized LOC100652758 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:151149602-151150323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23468 Neighboring gene Sharpr-MPRA regulatory region 5918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16529 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 2380 Neighboring gene glycine receptor alpha 1 Neighboring gene glutamate-ammonia ligase pseudogene 1 Neighboring gene tRNA-Gln (anticodon CTG) 13-1

    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
    • 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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    Related articles in PubMed

    1. G3BP1-dependent mechanism suppressing protein aggregation in Huntington's models and its demise upon stress granule assembly. Gutiérrez-Garcia R, et al. Hum Mol Genet, 2023 May 5. PMID 36611004, Free PMC Article
    2. The roles of G3BP1 in human diseases (review). Ge Y, et al. Gene, 2022 May 5. PMID 35176431
    3. G3BP1 binds to guanine quadruplexes in mRNAs to modulate their stabilities. He X, et al. Nucleic Acids Res, 2021 Nov 8. PMID 34614161, Free PMC Article
    4. Resveratrol and related stilbene derivatives induce stress granules with distinct clearance kinetics. Amen T, et al. Mol Biol Cell, 2021 Nov 1. PMID 34432484, Free PMC Article
    5. G3BP1 may serve as a potential biomarker of proliferation, apoptosis, and prognosis in oral squamous cell carcinoma. Hu X, et al. J Oral Pathol Med, 2021 Nov. PMID 33987877

    See all (355) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DHX38 enhances proliferation, metastasis, and EMT progression in NSCLC through the G3BP1-mediated MAPK pathway.
      Title: DHX38 enhances proliferation, metastasis, and EMT progression in NSCLC through the G3BP1-mediated MAPK pathway.
    2. Endometrial cancer (EC) derived G3BP1 overexpression and mutant promote EC tumorigenesis and metastasis via SPOP/ERalpha axis.
      Title: Endometrial cancer (EC) derived G3BP1 overexpression and mutant promote EC tumorigenesis and metastasis via SPOP/ERα axis.
    3. Phase-separated nucleocapsid protein of SARS-CoV-2 suppresses cGAS-DNA recognition by disrupting cGAS-G3BP1 complex.
      Title: Phase-separated nucleocapsid protein of SARS-CoV-2 suppresses cGAS-DNA recognition by disrupting cGAS-G3BP1 complex.
    4. TRIM25-mediated ubiquitination of G3BP1 regulates the proliferation and migration of human neuroblastoma cells.
      Title: TRIM25-mediated ubiquitination of G3BP1 regulates the proliferation and migration of human neuroblastoma cells.
    5. The DUSP domain of pseudophosphatase MK-STYX interacts with G3BP1 to decrease stress granules.
      Title: The DUSP domain of pseudophosphatase MK-STYX interacts with G3BP1 to decrease stress granules.
    6. Stress granule homeostasis is modulated by TRIM21-mediated ubiquitination of G3BP1 and autophagy-dependent elimination of stress granules.
      Title: Stress granule homeostasis is modulated by TRIM21-mediated ubiquitination of G3BP1 and autophagy-dependent elimination of stress granules.
    7. The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits.
      Title: The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits.
    8. G3BP1-dependent mechanism suppressing protein aggregation in Huntington's models and its demise upon stress granule assembly.
      Title: G3BP1-dependent mechanism suppressing protein aggregation in Huntington's models and its demise upon stress granule assembly.
    9. Caprin-1 binding to the critical stress granule protein G3BP1 is influenced by pH.
      Title: Caprin-1 binding to the critical stress granule protein G3BP1 is influenced by pH.
    10. The force-dependent filamin A-G3BP1 interaction regulates phase-separated stress granule formation.
      Title: The force-dependent filamin A-G3BP1 interaction regulates phase-separated stress granule formation.
    Submit: New GeneRIF Correction See all GeneRIFs (109)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of preschool internalizing problems.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with GTPase activating protein (SH3 domain) binding protein 1 (G3BP1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Pr55(Gag) gag HIV-1 Gag inhibits G3BP1 localization in U2OS cells; inhibiting the formation of stress granules PubMed
    gag HIV-1 Gag co-localizes and interacts with G3BP1 and TIAR to modulate stress granule assembly during HIV-1 infection PubMed
    gag HIV-1 Gag has the ability to interfere with HIV-2 Gag induced assembly of stress granules with the protein marker G3BP1 PubMed
    gag Overexpression of G3BP1 inhibits the interaction between HIV-1 Gag and eEF2 in cells, suggesting that G3BP1 competes with eEF2 binding to Gag PubMed
    Tat tat GTPase activating protein (SH3 domain) binding protein 1 (G3BP1) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111040

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA/RNA helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables RNA helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular condensate scaffold activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosomal small subunit binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in Ras protein signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of stress granule assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of type I interferon production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of type I interferon production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in stress granule assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in stress granule assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic stress granule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in focal adhesion HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ribonucleoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ras GTPase-activating protein-binding protein 1
    Names
    ATP-dependent DNA helicase VIII
    DNA helicase VIII
    G3BP-1
    GAP SH3 domain-binding protein 1
    GAP binding protein
    GTPase activating protein (SH3 domain) binding protein 1
    Ras-GTPase-activating protein SH3-domain-binding protein
    RasGAP-associated endoribonuclease G3BP
    NP_005745.1
    NP_938405.1

    NCBI Reference Sequences (RefSeq)

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    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_005754.3 → NP_005745.1  ras GTPase-activating protein-binding protein 1

      See identical proteins and their annotated locations for NP_005745.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC091982, AK130003, BU517281, BX647869, BX648012
      Consensus CDS
      CCDS4319.1
      UniProtKB/Swiss-Prot
      Q13283, Q5HYE9
      UniProtKB/TrEMBL
      Q32P45, Q5U0Q1, Q6FI03
      Related
      ENSP00000348578.3, ENST00000356245.8
      Conserved Domains (3) summary
      pfam06390
      Location:212 → 320
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd00780
      Location:7 → 135
      NTF2; Nuclear transport factor 2 (NTF2) domain plays an important role in the trafficking of macromolecules, ions and small molecules between the cytoplasm and nucleus. This bi-directional transport of macromolecules across the nuclear envelope requires many ...
      cd12463
      Location:337 → 416
      RRM_G3BP1; RNA recognition motif found in ras GTPase-activating protein-binding protein 1 (G3BP1) and similar proteins

    2. NM_198395.2 → NP_938405.1  ras GTPase-activating protein-binding protein 1

      See identical proteins and their annotated locations for NP_938405.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC091982, AK130003, BX647869, BX648012
      Consensus CDS
      CCDS4319.1
      UniProtKB/Swiss-Prot
      Q13283, Q5HYE9
      UniProtKB/TrEMBL
      Q32P45, Q5U0Q1, Q6FI03
      Related
      ENSP00000377681.3, ENST00000394123.7
      Conserved Domains (3) summary
      pfam06390
      Location:212 → 320
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
      cd00780
      Location:7 → 135
      NTF2; Nuclear transport factor 2 (NTF2) domain plays an important role in the trafficking of macromolecules, ions and small molecules between the cytoplasm and nucleus. This bi-directional transport of macromolecules across the nuclear envelope requires many ...
      cd12463
      Location:337 → 416
      RRM_G3BP1; RNA recognition motif found in ras GTPase-activating protein-binding protein 1 (G3BP1) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      151771954..151812785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      152310934..152351769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13283.1 GenPept UniProtKB/Swiss-Prot:Q13283

    Gene LinkOut

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

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    Chemical Information
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