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G3BP1 (G3BP stress granule assembly factor 1)

Identity

Alias_namesGTPase activating protein (SH3 domain) binding protein 1
Alias_symbol (synonym)HDH-VIII
G3BP
Other alias
HGNC (Hugo) G3BP1
LocusID (NCBI) 10146
Atlas_Id 47699
Location 5q33.1  [Link to chromosome band 5q33]
Location_base_pair Starts at 151771915 and ends at 151805354 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
G3BP1 (5q33.1) / GLRA1 (5q33.1)G3BP1 (5q33.1) / MCMBP (10q26.11)G3BP1 (5q33.1) / VTI1B (14q24.1)
RARS (5q34) / G3BP1 (5q33.1)ZNF207 (17q11.2) / G3BP1 (5q33.1)G3BP1 5q33.1 / GLRA1 5q33.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;11)(q33;p13) CAPRIN1/PDGFRB


External links

Nomenclature
HGNC (Hugo)G3BP1   30292
Cards
Entrez_Gene (NCBI)G3BP1  10146  G3BP stress granule assembly factor 1
AliasesG3BP; HDH-VIII
GeneCards (Weizmann)G3BP1
Ensembl hg19 (Hinxton)ENSG00000145907 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145907 [Gene_View]  chr5:151771915-151805354 [Contig_View]  G3BP1 [Vega]
ICGC DataPortalENSG00000145907
TCGA cBioPortalG3BP1
AceView (NCBI)G3BP1
Genatlas (Paris)G3BP1
WikiGenes10146
SOURCE (Princeton)G3BP1
Genetics Home Reference (NIH)G3BP1
Genomic and cartography
GoldenPath hg38 (UCSC)G3BP1  -     chr5:151771915-151805354 +  5q33.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)G3BP1  -     5q33.1   [Description]    (hg19-Feb_2009)
EnsemblG3BP1 - 5q33.1 [CytoView hg19]  G3BP1 - 5q33.1 [CytoView hg38]
Mapping of homologs : NCBIG3BP1 [Mapview hg19]  G3BP1 [Mapview hg38]
OMIM608431   
Gene and transcription
Genbank (Entrez)AK091592 AK128316 AK130003 AK222606 AK300098
RefSeq transcript (Entrez)NM_005754 NM_198395
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)G3BP1
Cluster EST : UnigeneHs.587054 [ NCBI ]
CGAP (NCI)Hs.587054
Alternative Splicing GalleryENSG00000145907
Gene ExpressionG3BP1 [ NCBI-GEO ]   G3BP1 [ EBI - ARRAY_EXPRESS ]   G3BP1 [ SEEK ]   G3BP1 [ MEM ]
Gene Expression Viewer (FireBrowse)G3BP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10146
GTEX Portal (Tissue expression)G3BP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13283   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13283  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13283
Splice isoforms : SwissVarQ13283
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
PhosPhoSitePlusQ13283
Domaine pattern : Prosite (Expaxy)NTF2_DOMAIN (PS50177)    RRM (PS50102)   
Domains : Interpro (EBI)NTF2    NTF2-like_dom    Nuclear_transport_factor_2_euk    Nucleotide-bd_a/b_plait    RRM_dom   
Domain families : Pfam (Sanger)NTF2 (PF02136)    RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam02136    pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)G3BP1
DMDM Disease mutations10146
Blocks (Seattle)G3BP1
PDB (SRS)3Q90    4FCJ    4FCM    4IIA    5FW5   
PDB (PDBSum)3Q90    4FCJ    4FCM    4IIA    5FW5   
PDB (IMB)3Q90    4FCJ    4FCM    4IIA    5FW5   
PDB (RSDB)3Q90    4FCJ    4FCM    4IIA    5FW5   
Structural Biology KnowledgeBase3Q90    4FCJ    4FCM    4IIA    5FW5   
SCOP (Structural Classification of Proteins)3Q90    4FCJ    4FCM    4IIA    5FW5   
CATH (Classification of proteins structures)3Q90    4FCJ    4FCM    4IIA    5FW5   
SuperfamilyQ13283
Human Protein AtlasENSG00000145907
Peptide AtlasQ13283
HPRD06569
IPIIPI00012442   IPI01011685   IPI00442863   IPI00977369   IPI00973731   IPI00982147   IPI00982712   IPI00979451   IPI00974560   IPI00973932   IPI00982785   
Protein Interaction databases
DIP (DOE-UCLA)Q13283
IntAct (EBI)Q13283
FunCoupENSG00000145907
BioGRIDG3BP1
STRING (EMBL)G3BP1
ZODIACG3BP1
Ontologies - Pathways
QuickGOQ13283
Ontology : AmiGODNA binding  RNA binding  mRNA binding  ATP-dependent DNA helicase activity  ATP-dependent RNA helicase activity  endonuclease activity  protein binding  ATP binding  nucleus  cytosol  cytosol  plasma membrane  focal adhesion  transport  Ras protein signal transduction  cytoplasmic stress granule  intracellular ribonucleoprotein complex  DNA duplex unwinding  negative regulation of canonical Wnt signaling pathway  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIDNA binding  RNA binding  mRNA binding  ATP-dependent DNA helicase activity  ATP-dependent RNA helicase activity  endonuclease activity  protein binding  ATP binding  nucleus  cytosol  cytosol  plasma membrane  focal adhesion  transport  Ras protein signal transduction  cytoplasmic stress granule  intracellular ribonucleoprotein complex  DNA duplex unwinding  negative regulation of canonical Wnt signaling pathway  nucleic acid phosphodiester bond hydrolysis  
NDEx NetworkG3BP1
Atlas of Cancer Signalling NetworkG3BP1
Wikipedia pathwaysG3BP1
Orthology - Evolution
OrthoDB10146
GeneTree (enSembl)ENSG00000145907
Phylogenetic Trees/Animal Genes : TreeFamG3BP1
HOVERGENQ13283
HOGENOMQ13283
Homologs : HomoloGeneG3BP1
Homology/Alignments : Family Browser (UCSC)G3BP1
Gene fusions - Rearrangements
Fusion : MitelmanG3BP1/GLRA1 [5q33.1/5q33.1]  
Fusion: TCGAG3BP1 5q33.1 GLRA1 5q33.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerG3BP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)G3BP1
dbVarG3BP1
ClinVarG3BP1
1000_GenomesG3BP1 
Exome Variant ServerG3BP1
ExAC (Exome Aggregation Consortium)G3BP1 (select the gene name)
Genetic variants : HAPMAP10146
Genomic Variants (DGV)G3BP1 [DGVbeta]
DECIPHERG3BP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisG3BP1 
Mutations
ICGC Data PortalG3BP1 
TCGA Data PortalG3BP1 
Broad Tumor PortalG3BP1
OASIS PortalG3BP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICG3BP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDG3BP1
intOGen PortalG3BP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch G3BP1
DgiDB (Drug Gene Interaction Database)G3BP1
DoCM (Curated mutations)G3BP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)G3BP1 (select a term)
intoGenG3BP1
Cancer3DG3BP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608431   
Orphanet
MedgenG3BP1
Genetic Testing Registry G3BP1
NextProtQ13283 [Medical]
TSGene10146
GENETestsG3BP1
Target ValidationG3BP1
Huge Navigator G3BP1 [HugePedia]
snp3D : Map Gene to Disease10146
BioCentury BCIQG3BP1
ClinGenG3BP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10146
Chemical/Pharm GKB GenePA162389105
Clinical trialG3BP1
Miscellaneous
canSAR (ICR)G3BP1 (select the gene name)
Probes
Litterature
PubMed128 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineG3BP1
EVEXG3BP1
GoPubMedG3BP1
iHOPG3BP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:34:38 CEST 2017

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