Gene Gene information from NCBI Gene database.
Entrez ID 10146
Gene name G3BP stress granule assembly factor 1
Gene symbol G3BP1
Synonyms (NCBI Gene)
G3BPHDH-VIII
Chromosome 5
Chromosome location 5q33.1
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
miRNA miRNA information provided by mirtarbase database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002376 Process Immune system process IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003678 Function DNA helicase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608431 30292 ENSG00000145907
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
ANKFYVHNDIFRY
QDEVFGGFVTEPQEESEEEVEEPEERQQTPEVVPDDSGTFYDQAVVS
NDMEEHLEEPVAEPEPDPEPEPEQEPVSEIQEEKPEPVLEETAPEDAQKSSSPAPADIAQ
TVQEDLRTFSWASVTSKNLPPSGAVPVTGIPPHVVKVPASQPRPESKPESQIPPQRPQRD
QRVREQRINIPPQRGPRPIREAGEQGDIEPRRMVRHPDSHQLFIGNLPHEVDKSELKDFF
QSYGNVVELRINSGGKLPNFGFVVFDDSEPVQKVLSNRPIMFRGEV
RLNVEEKKTRAARE
GDRRDNRLRGPGGPRGGLGGGMRGPPRGGMVQKPGFGVGRGLAPRQ
Sequence length 466
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cytosolic DNA-sensing pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 23092511 Associate
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 11146228
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29626090
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 27106762
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Astrocytoma Astrocytoma Pubtator 27106762 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation BEFREE 30943206
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 28405179, 30510222
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22447108, 24321297, 30207743
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24321297, 35100495 Associate
★☆☆☆☆
Found in Text Mining only