G3BP1 (G3BP stress granule assembly factor 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10146
Gene name Gene Name - the full gene name approved by the HGNC.
G3BP stress granule assembly factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
G3BP1
Synonyms (NCBI Gene) Gene synonyms aliases
G3BP, HDH-VIII
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q33.1
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(931)
miRTarBase ID miRNA Experiments Reference
MIRT005163 hsa-miR-30a-5p pSILAC 18668040
MIRT002572 hsa-miR-124-3p Microarray 15685193
MIRT002572 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT023470 hsa-miR-23b-3p Sequencing 20371350
MIRT024102 hsa-miR-1-3p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003678 Function DNA helicase activity IDA 9889278
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003724 Function RNA helicase activity IDA 9889278
GO:0003729 Function MRNA binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608431 30292 ENSG00000145907
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q13283
Protein name Ras GTPase-activating protein-binding protein 1 (G3BP-1) (EC 3.6.4.12) (EC 3.6.4.13) (ATP-dependent DNA helicase VIII) (hDH VIII) (GAP SH3 domain-binding protein 1)
Protein function Protein involved in various processes, such as stress granule formation and innate immunity (PubMed:12642610, PubMed:20180778, PubMed:23279204, PubMed:30510222, PubMed:30804210). Plays an essential role in stress granule formation (PubMed:126426
PDB 3Q90 , 4FCJ , 4FCM , 4IIA , 5FW5 , 6TA7 , 7S17 , 7SUO , 7XHF , 7XHG , 8TH1 , 8TH5 , 8TH6 , 8TH7 , 8V1L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02136 NTF2 11 → 133 Nuclear transport factor 2 (NTF2) domain Domain
PF00076 RRM_1 342 → 406 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:8649363}.
Sequence 
MVMEKPSPLLVGREFVRQYYTLLNQAPDMLHRFYGKNSSYVHGGLDSNGKPADAVYGQKE
IHRKVMSQNFTNCHTKIRHVDAHATLNDGVVVQVMGLLSNNNQALRRFMQTFVLAPEGSV
ANKFYVHNDIFRYQDEVFGGFVTEPQEESEEEVEEPEERQQTPEVVPDDSGTFYDQAVVS
NDMEEHLEEPVAEPEPDPEPEPEQEPVSEIQEEKPEPVLEETAPEDAQKSSSPAPADIAQ
TVQEDLRTFSWASVTSKNLPPSGAVPVTGIPPHVVKVPASQPRPESKPESQIPPQRPQRD
QRVREQRINIPPQRGPRPIREAGEQGDIEPRRMVRHPDSHQLFIGNLPHEVDKSELKDFF
QSYGNVVELRINSGGKLPNFGFVVFDDSEPVQKVLSNRPIMFRGEVRLNVEEKKTRAARE
GDRRDNRLRGPGGPRGGLGGGMRGPPRGGMVQKPGFGVGRGLAPRQ
Sequence length 466
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Cytosolic DNA-sensing pathway  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)		 26830138
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Carcinoma Carcinoma GWAS
Show/Hide Text Mining Associations (36)
Associations from Text Mining
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 23092511
Astrocytoma Associate 27106762
Breast Neoplasms Associate 24321297, 35100495
Carcinogenesis Associate 37904149
Carcinoma Non Small Cell Lung Associate 31560169
Carcinoma Renal Cell Associate 32663095, 35030351
Cardiomyopathy Dilated Inhibit 35017014
Cholangiocarcinoma Associate 39784718
COVID 19 Associate 35240128, 40253079
Cystic Fibrosis Associate 31501480