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mutLBSgeneDB |
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| Gene summary for G3BP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | G3BP1 |
| Gene name | GTPase activating protein (SH3 domain) binding protein 1 | |
| Synonyms | G3BP|HDH-VIII | |
| Cytomap | UCSC genome browser: 5q33.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005754.2, NM_198395.1, | |
| Description | ATP-dependent DNA helicase VIIIG3BP-1GAP SH3 domain-binding protein 1GAP binding proteinRas-GTPase-activating protein SH3-domain-binding proteinRasGAP-associated endoribonuclease G3BPras GTPase-activating protein-binding protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 608431 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000145907 | ||
| HPRD : 06569 | ||
| Vega : OTTHUMG00000130123 | ||
| Protein | UniProt: Q13283 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_G3BP1 | |
| BioGPS: 10146 | ||
| Pathway | NCI Pathway Interaction Database: G3BP1 | |
| KEGG: G3BP1 | ||
| REACTOME: G3BP1 | ||
| Pathway Commons: G3BP1 | ||
| Context | iHOP: G3BP1 | |
| ligand binding site mutation search in PubMed: G3BP1 | ||
| UCL Cancer Institute: G3BP1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for G3BP1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E117 | G118W | LUAD | 2 | E117 | A115V | COAD | 1 | Y34 | K36N | COAD | 1 | K123 | K123T | COAD | 1 | Q18 | Y20H | KIRC | 1 | V11 | V11F | LUAD | 1 | E117 | A115S | LUAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for G3BP1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | Y34 | K36N | -0.8024909 | E117 | A115S | -0.793688 | E117 | G118W | -0.55801966 | V11 | V11F | -0.55321754 | K123 | K123T | -0.38952381 | E117 | A115V | -0.30955208 | Q18 | Y20H | -0.1463621 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for G3BP1 from PDB |
| PDB ID | PDB title | PDB structure | 3Q90 | Crystal structure of the NTF2 domain of Ras GTPase-activating protein-binding protein 1 |  |
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| Differential gene expression and gene-gene network for G3BP1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for G3BP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for G3BP1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of G3BP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (SER,GLY,PHE,SER,PHE) | 4fcm | A | V11 Q18 K123 | III | Peptide ligand (SER,GLY,PHE,SER,PHE) | 4fcm | B | V11 Q18 Y34 E117 K123 |
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| Conservation information for LBS of G3BP1 |
| Multiple alignments for Q13283 in multiple species |
| LBS | AA sequence | # species | Species | E117 | FVLAPEGSVAN | 3 | Homo sapiens, Mus musculus, Bos taurus | E14 | LLVGREFVRQY | 3 | Homo sapiens, Mus musculus, Bos taurus | F124 | SVANKFYVHND | 3 | Homo sapiens, Mus musculus, Bos taurus | F15 | LVGREFVRQYY | 3 | Homo sapiens, Mus musculus, Bos taurus | F33 | DMLHRFYGKNS | 3 | Homo sapiens, Mus musculus, Bos taurus | K123 | GSVANKFYVHN | 3 | Homo sapiens, Mus musculus, Bos taurus | L10 | KPSPLLVGREF | 3 | Homo sapiens, Mus musculus, Bos taurus | N122 | EGSVANKFYVH | 3 | Homo sapiens, Mus musculus, Bos taurus | P6 | MVMEKPSPLLV | 3 | Homo sapiens, Mus musculus, Bos taurus | Q18 | REFVRQYYTLL | 3 | Homo sapiens, Mus musculus, Bos taurus | R32 | PDMLHRFYGKN | 3 | Homo sapiens, Mus musculus, Bos taurus | V11 | PSPLLVGREFV | 3 | Homo sapiens, Mus musculus, Bos taurus | Y125 | VANKFYVHNDI | 3 | Homo sapiens, Mus musculus, Bos taurus | Y34 | MLHRFYGKNSS | 3 | Homo sapiens, Mus musculus, Bos taurus |
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