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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

G3BP1 Gene

protein-coding   GIFtS: 56
GCID: GC05P151151

GTPase Activating Protein (SH3 Domain) Binding Protein 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)
About This Section

Aliases
GTPase Activating Protein (SH3 Domain) Binding Protein 11 2     GAP Binding Protein2
G3BP2 3 5     Ras GTPase-Activating Protein-Binding Protein 12
Ras-GTPase-Activating Protein SH3-Domain-Binding Protein1 2     RasGAP-Associated Endoribonuclease G3BP2
G3BP-12 3     EC 3.6.4.123
ATP-Dependent DNA Helicase VIII2 3     EC 3.6.4.133
GAP SH3 Domain-Binding Protein 12 3     HDH VIII3
HDH-VIII2     EC 3.6.18

External Ids:    HGNC: 302921   Entrez Gene: 101462   Ensembl: ENSG000001459077   OMIM: 6084315   UniProtKB: Q132833   

Export aliases for G3BP1 gene to outside databases

Previous GC identifers: GC05P151132 GC05P146296


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for G3BP1 Gene:
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)

GeneCards Summary for G3BP1 Gene: 
G3BP1 (GTPase activating protein (SH3 domain) binding protein 1) is a protein-coding gene. Diseases associated with G3BP1 include ornithosis, and behcet's disease. GO annotations related to this gene include ATP-dependent DNA helicase activity and mRNA binding. An important paralog of this gene is G3BP2.

UniProtKB/Swiss-Prot: G3BP1_HUMAN, Q13283
Function: May be a regulated effector of stress granule assembly. Phosphorylation-dependent sequence-specific
endoribonuclease in vitro. Cleaves exclusively between cytosine and adenine and cleaves MYC mRNA preferentially
at the 3'-UTR. ATP- and magnesium-dependent helicase. Unwinds preferentially partial DNA and RNA duplexes having
a 17 bp annealed portion and either a hanging 3' tail or hanging tails at both 5'- and 3'-ends. Unwinds DNA/DNA,
RNA/DNA, and RNA/RNA substrates with comparable efficiency. Acts unidirectionally by moving in the 5' to 3'
direction along the bound single-stranded DNA

Gene Wiki entry for G3BP1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_029289.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the G3BP1 gene promoter:
         PPAR-gamma1   p53   PPAR-gamma2   Pax-4a   Arnt   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidG3BP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for G3BP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat G3BP1


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

Entrez Gene cytogenetic band: 5q33.1   Ensembl cytogenetic band:  5q33.1   HGNC cytogenetic band: 5q33.1

G3BP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
G3BP1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P151151:  view genomic region     (about GC identifiers)

Start:
151,150,606 bp from pter      End:
151,192,346 bp from pter
Size:
41,741 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: G3BP1_HUMAN, Q13283 (See protein sequence)
Recommended Name: Ras GTPase-activating protein-binding protein 1  
Size: 466 amino acids; 52164 Da
Cofactor: Magnesium. Required for helicase activity
Subunit: Binds to the SH3 domain of Ras GTPase-activating protein (RASA1) in proliferating cells. No interaction
in quiescent cells Component of a TAU mRNP complex, at least composed of IGF2BP1, ELAVL4 and G3BP1 (By
similarity). Interacts with USP10, and may regulate it. Forms homodimers and oligomers
Subcellular location: Cytoplasm. Cytoplasm, cytosol. Cell membrane. Nucleus. Note=Cytoplasmic in proliferating
cells, can be recruited to the plasma membrane in exponentially growing cells (By similarity). Cytosolic and
partially nuclear in resting cells. Recruited to stress granules (SGs) upon either arsenite or high temperature
treatment. Recruitment to SGs is influenced by HRAS
3 PDB 3D structures from and Proteopedia for G3BP1:
3Q90 (3D)        4FCJ (3D)        4FCM (3D)    

Explore the universe of human proteins at neXtProt for G3BP1: NX_Q13283

Explore proteomics data for G3BP1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated exclusively on serine residues. Hyperphosphorylated in quiescent fibroblasts. Hypophosphorylation
    leads to a decrease in endoribonuclease activity (By similarity). RASA1-dependent phosphorylation of Ser-149
    induces a conformational change that prevents self-association. Dephosphorylation after HRAS activation is
    required for stress granule assembly. Ser-149 phosphorylation induces partial nuclear localization
  • UniProtKB: Arg-435 is dimethylated, probably to asymmetric dimethylarginine
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13283

  • 4/6 DME Specific Peptides for G3BP1 (Q13283) (see all 6)
     PPQRGPRP  QRPQRDQRVREQRIN  PPHVVKVPASQPRPESKP  QEDLRTFSWASVTSKNLPPSGAVPVTG 

    G3BP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    G3BP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005745.1  NP_938405.1  

    ENSEMBL proteins: 
     ENSP00000430738   ENSP00000429920   ENSP00000377681   ENSP00000430480   ENSP00000348578  
     ENSP00000429250   ENSP00000430045   ENSP00000428926   ENSP00000427810   ENSP00000428469  
     ENSP00000429316   ENSP00000445035  

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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IEA--

    G3BP1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for G3BP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RBM: RNA binding motif (RRM) containing

    4 InterPro protein domains:
     IPR002075 NTF2
     IPR012677 Nucleotide-bd_a/b_plait
     IPR018222 Nuclear_transport_factor_2_euk
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q13283

    ProtoNet protein and cluster: Q13283

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB002075 Nuclear transport factor 2 (NTF2)


    UniProtKB/Swiss-Prot: G3BP1_HUMAN, Q13283
    Domain: The NTF2 domain mediates multimerization
    Similarity: Contains 1 NTF2 domain
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    G3BP1 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: G3BP1_HUMAN, Q13283
    Function: May be a regulated effector of stress granule assembly. Phosphorylation-dependent sequence-specific
    endoribonuclease in vitro. Cleaves exclusively between cytosine and adenine and cleaves MYC mRNA preferentially
    at the 3'-UTR. ATP- and magnesium-dependent helicase. Unwinds preferentially partial DNA and RNA duplexes having
    a 17 bp annealed portion and either a hanging 3' tail or hanging tails at both 5'- and 3'-ends. Unwinds DNA/DNA,
    RNA/DNA, and RNA/RNA substrates with comparable efficiency. Acts unidirectionally by moving in the 5' to 3'
    direction along the bound single-stranded DNA
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131 EC 3.6.4.121

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003729mRNA binding IEA--
    GO:0004003ATP-dependent DNA helicase activity TAS9889278
         
    G3BP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for G3BP1:
     Synthetic lethal with Ras 

         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for G3bp1):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size 
     limbs/digits/tail  mortality/aging  nervous system  other  respiratory system 

    G3BP1 for phenotypes           About GeneDecksing

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    hsa-miR-577 hsa-miR-124 hsa-miR-3154 hsa-miR-3121-3p hsa-miR-506 hsa-miR-4305 hsa-miR-548c-3p hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidG3BP1 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for G3BP1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for G3BP1

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

    5/179 Interacting proteins for G3BP1 (Q132831, 2, 3 ENSP000003485784) via UniProtKB, MINT, STRING, and/or I2D (see all 179)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF4G1Q046372, 3, ENSP000003168794MINT-6741134 I2D: score=2 STRING: ENSP00000316879
    ATXN2LQ8WWM71, 3EBI-1047359,EBI-948363 I2D: score=2 
    SND1Q7KZF42, 3, ENSP000003467624MINT-7968779 MINT-7968768 MINT-7968789 I2D: score=1 STRING: ENSP00000346762
    CSKP412402, 3, ENSP000002200034MINT-61272 MINT-61275 MINT-61273 I2D: score=2 STRING: ENSP00000220003
    LCKP062392, 3, ENSP000003378254MINT-61274 MINT-61276 I2D: score=1 STRING: ENSP00000337825
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--
    GO:0007265Ras protein signal transduction TAS8649363
    GO:0090090negative regulation of canonical Wnt receptor signaling pathway IEA--

    G3BP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    G3BP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    2 HMDB Compounds for G3BP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhenylephrineAdrianol (see all 60)59-42-7--

    2 Novoseek inferred chemical compound relationships for G3BP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 10.1 1 9632780 (1)
    tyrosine 8.85 2 15743820 (1), 9575347 (1)

    Search CenterWatch for drugs/clinical trials and news about G3BP1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for G3BP1 gene (2 alternative transcripts): 
    NM_005754.2  NM_198395.1  

    Unigene Cluster for G3BP1:

    GTPase activating protein (SH3 domain) binding protein 1
    Hs.587054  [show with all ESTs]
    Unigene Representative Sequence: NM_005754
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523519 ENST00000520578 ENST00000394123(uc003lun.3 uc003lum.3 uc011dcu.2 uc010jhz.3 uc003luq.3)
    ENST00000522761 ENST00000356245 ENST00000518726 ENST00000519832(uc010jhy.1)
    ENST00000507878 ENST00000517947 ENST00000522367 ENST00000520177 ENST00000520006
    ENST00000522666 ENST00000543466
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    Additional mRNA sequence: 

    AK130003.1 AK222606.1 AK300098.1 AK303580.1 AK309172.1 AK311635.1 AK312572.1 BC006997.1 
    BC108278.1 BT019384.1 BX647869.1 BX648012.1 CR536535.1 U32519.1 

    24/28 DOTS entries (see all 28):

    DT.417505  DT.215685  DT.92410058  DT.92452506  DT.97860154  DT.99927264  DT.100037754  DT.100645520 
    DT.100706249  DT.215684  DT.120868951  DT.120868984  DT.120869069  DT.92452517  DT.95230237  DT.100059279 
    DT.100653969  DT.120869009  DT.120869041  DT.120869070  DT.40113075  DT.75186461  DT.92452516  DT.95230232 

    24/462 AceView cDNA sequences (see all 462):

    BE301413 AI358600 Z39647 BE673925 BQ049227 BF196887 BP341955 AL515767 
    AI805614 BX405314 BG252290 AI679147 CR625819 BU620479 AW516391 CN483430 
    AW516651 BM541284 AW675016 BG055179 AU103595 NM_005754 BM463594 CF272301 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for G3BP1 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
    SP1:                    -                       -                             -                                                                                 
    SP2:                    -     -                 -                             -                                                                                 
    SP3:                    -                 -     -     -                       -                                                                                 
    SP4:                    -     -                 -                       -     -     -     -     -     -     -     -     -     -     -     -     -               
    SP5:                                                                                                                                -     -     -               


    ECgene alternative splicing isoforms for G3BP1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    G3BP1 expression in normal human tissues (normalized intensities)      G3BP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    G3BP1 Expression
    About this image


    G3BP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/47 selected tissues (see all 47) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Trigeminal Ganglion   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Atrioventricular Node
             heart muscle ; myocytes   
             heart/ventricle   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Stem Bronchi
             lung ; pneumocytes   

    See G3BP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for G3BP1

    SOURCE GeneReport for Unigene cluster: Hs.587054

    UniProtKB/Swiss-Prot: G3BP1_HUMAN, Q13283
    Tissue specificity: Ubiquitous

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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for G3BP1 gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia G3bp11 , 5 Ras-GTPase-activating protein SH3-domain binding protein more1, 5 86.49(n)1
    93.97(a)1
      11 (33.09 cM)5
    270411  NM_013716.21  NP_038744.11 
     554696855 
    chicken
    (Gallus gallus)
    Aves G3BP11 GTPase activating protein (SH3 domain) binding protein more 80.46(n)
    85.99(a)
      416265  NM_001006150.1  NP_001006150.1 
    lizard
    (Anolis carolinensis)
    Reptilia G3BP16
    GTPase activating protein (SH3 domain) binding pro...
    81(a)
    1 ↔ 1
    GL343248.1(66000-80148)
    African clawed frog
    (Xenopus laevis)
    Amphibia g3bp-prov2 Ras-GTPase-activating protein SH3-domain-binding protein 76.69(n)    BC045051.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj17h052 wufj17h05 74.84(n)   335512  BC045874.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rin6
    rasputin
    23(a)
    1 → many
    3R(9472726-9480285)
    worm
    (Caenorhabditis elegans)
    Secernentea K08F4.26
    Protein K08F4.2
    19(a)
    1 → many
    IV(10126758-10128956)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G609801 nuclear transport factor 2 and RNA recognition motif more 45.07(n)
    33.16(a)
      836219  NM_125491.2  NP_200906.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g03728001 hypothetical protein 44.07(n)
    32.44(a)
      4335600  NM_001059106.1  NP_001052571.1 


    ENSEMBL Gene Tree for G3BP1 (if available)
    TreeFam Gene Tree for G3BP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for G3BP1 gene
    G3BP22  
    4 SIMAP similar genes for G3BP1 using alignment to 9 protein entries:     G3BP1_HUMAN (see all proteins):
    DKFZp313K0921    G3BP    G3BP2    HNRNPD

    G3BP1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for G3BP1
    PGOHUM00000240354


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/762 SNPs in G3BP1 are shown (see all 762)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs732816341,2
    C,F--151153171(+) TAGAAG/ACACTT 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1869553081,2
    C--151153177(+) CACTTC/TTATAA 2 -- int10--------
    rs1922343071,2
    --151153197(+) TTTCTA/GTAATC 2 -- int10--------
    rs1453404591,2
    --151153283(+) AACTTC/TGCTGG 2 -- int10--------
    rs1379364881,2
    --151153309(+) TACTTG/TCCCTT 2 -- int10--------
    rs1425161771,2
    --151153312(+) TTGCCC/TTTACA 2 -- int10--------
    rs1833940731,2
    --151153370(+) GCAATC/TTAAGT 2 -- int10--------
    rs14330421,2
    C,F,H--151153454(-) TTTGCC/TTCAAG 2 -- int115Minor allele frequency- T:0.04NS EA NA WA 1716
    rs752790261,2
    C--151153500(+) AATTTA/CGTTAG 2 -- int10--------
    rs728002911,2
    C,F--151153547(+) CCTCAG/AGCAAA 2 -- int11Minor allele frequency- A:0.05NA 120

    HapMap Linkage Disequilibrium report for G3BP1 (151150606 - 151192346 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for G3BP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv272455CNV Insertion20981092
    nsv5070CNV Insertion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608431    OMIM disorders: --

    15 diseases for G3BP1:    About MalaCards
    ornithosis    behcet's disease    thrombocytopenia    vaccinia
    glioblastoma    hepatitis c    rheumatoid arthritis    esophagitis
    arthritis    breast cancer    prostate cancer    lung cancer
    hepatitis    prostatitis    neuronitis


    G3BP1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for G3BP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma squamous cell 11.4 2 17696235 (2)
    metastasis 7.58 8 17696235 (2), 11779432 (2), 17253181 (1), 16091175 (1)
    tumors 5.5 15 11146228 (4), 16091175 (3), 11888885 (2), 17253181 (1) (see all 6)
    cancer 5.49 4 11779432 (2), 11888885 (1)
    breast cancer 0 11 11888885 (4), 16091175 (3), 12587999 (1)


    Export disorders for G3BP1 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)
    About This Section

    PubMed articles for G3BP1 gene, integrated from 9 sources (see all 122):
    (articles sorted by number of sources associating them with G3BP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A Ras-GTPase-activating protein SH3-domain-binding protein. (PubMed id 8649363)1, 2, 3, 9 Parker F.... Tocque B. (1996)
    2. Human DNA helicase VIII: a DNA and RNA helicase corresponding to the G3BP protein, an element of the ras transduction pathway. (PubMed id 9889278)1, 2, 3, 9 Costa M.... Falaschi A. (1999)
    3. The RasGAP-associated endoribonuclease G3BP assembles stress granules. (PubMed id 12642610)1, 2, 9 Tourriere H.... Tazi J. (2003)
    4. Ras-GAP SH3 domain binding protein (G3BP) is a modulator of USP10, a novel human ubiquitin specific protease. (PubMed id 11439350)1, 2, 9 Soncini C.... Draetta G. (2001)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. RasGAP-associated endoribonuclease G3Bp: selective RNA degradation and phosphorylation-dependent localization. (PubMed id 11604510)1, 2 Tourriere H.... Tazi J. (2001)
    9. Heregulin induces expression, ATPase activity, and nuclear localization of G3BP, a Ras signaling component, in human breast tumors. (PubMed id 11888885)1, 9 Barnes C.J....Kumar R. (2002)
    10. Expression of G3BP and RhoC in esophageal squamous carcinoma and their effect on prognosis. (PubMed id 17696235)1, 9 Zhang H.Z....Wang M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 10146 HGNC: 30292 AceView: G3BP Ensembl:ENSG00000145907 euGenes: HUgn10146
    ECgene: G3BP1 H-InvDB: G3BP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for G3BP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for G3BP1 gene:
    Search GeneIP for patents involving G3BP1

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



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