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mutLBSgeneDB |
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| Gene summary for SH3KBP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SH3KBP1 |
| Gene name | SH3-domain kinase binding protein 1 | |
| Synonyms | CD2BP3|CIN85|GIG10|HSB-1|HSB1|MIG18 | |
| Cytomap | UCSC genome browser: Xp22.1-p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001024666.2, NM_001184960.1,NM_031892.2, | |
| Description | CD2-binding protein 3SH3 domain-containing kinase-binding protein 1Src family kinase-binding protein 1c-Cbl-interacting proteincbl-interacting protein of 85 kDahuman Src family kinase-binding protein 1migration-inducing gene 18src-related kinase bi | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300374 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000147010 | ||
| HPRD : 02301 | ||
| Vega : OTTHUMG00000021227 | ||
| Protein | UniProt: Q96B97 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SH3KBP1 | |
| BioGPS: 30011 | ||
| Pathway | NCI Pathway Interaction Database: SH3KBP1 | |
| KEGG: SH3KBP1 | ||
| REACTOME: SH3KBP1 | ||
| Pathway Commons: SH3KBP1 | ||
| Context | iHOP: SH3KBP1 | |
| ligand binding site mutation search in PubMed: SH3KBP1 | ||
| UCL Cancer Institute: SH3KBP1 | ||
| 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 SH3KBP1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H14 | Q13K | HNSC | 1 | W36 | W36L | 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 SH3KBP1 |
| 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 | H14 | Q13K | -0.9595128 | W36 | W36L | -0.23686285 |
| (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 SH3KBP1 from PDB |
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| Differential gene expression and gene-gene network for SH3KBP1 |
| 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 SH3KBP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0009375 | Colonic Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SH3KBP1 |
| 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 SH3KBP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (PRO,ALA,ARG,PRO,PRO,LYS,PRO,ARG,PRO,ARG,ARG) | 2bz8 | B | H14 W36 | III | Peptide ligand (PRO,ALA,ARG,PRO,PRO,LYS,PRO,ARG,PRO,ARG,ARG) | 2bz8 | A | W36 |
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| Conservation information for LBS of SH3KBP1 |
| Multiple alignments for Q96B97 in multiple species |
| LBS | AA sequence | # species | Species | D16 | QAQHDDELTIS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E17 | AQHDDELTISV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F52 | LFPDNFVREIK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F8 | EAIVEFDYQAQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G34 | IRKEDGGWWEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G35 | RKEDGGWWEGQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H14 | DYQAQHDDELT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L47 | NGRRGLFPDNF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N51 | GLFPDNFVREI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R54 | PDNFVREIKKD | 2 | Mus musculus, Rattus norvegicus | R54 | PDNFVREIKKE | 1 | Homo sapiens | W36 | KEDGGWWEGQI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y10 | IVEFDYQAQHD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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