mutLBSgeneDB |
Gene summary for BUB1 |
Gene summary |
Basic gene Info. | Gene symbol | BUB1 |
Gene name | BUB1 mitotic checkpoint serine/threonine kinase | |
Synonyms | BUB1A|BUB1L|hBUB1 | |
Cytomap | UCSC genome browser: 2q14 | |
Type of gene | protein-coding | |
RefGenes | NM_001278616.1, NM_001278617.1,NM_004336.4, | |
Description | BUB1 budding uninhibited by benzimidazoles 1 homologbudding uninhibited by benzimidazoles 1 homologmitotic checkpoint serine/threonine-protein kinase BUB1mitotic spindle checkpoint kinaseputative serine/threonine-protein kinase | |
Modification date | 20141207 | |
dbXrefs | MIM : 602452 | |
HGNC : HGNC | ||
Ensembl : ENSG00000169679 | ||
HPRD : 03907 | ||
Vega : OTTHUMG00000153638 | ||
Protein | UniProt: O43683 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_BUB1 | |
BioGPS: 699 | ||
Pathway | NCI Pathway Interaction Database: BUB1 | |
KEGG: BUB1 | ||
REACTOME: BUB1 | ||
Pathway Commons: BUB1 | ||
Context | iHOP: BUB1 | |
ligand binding site mutation search in PubMed: BUB1 | ||
UCL Cancer Institute: BUB1 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0007063 | regulation of sister chromatid cohesion | 15723797 | GO:0071173 | spindle assembly checkpoint | 15020684 |
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Ligand binding site mutations for BUB1 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | K54 | E55K | COAD | 1 | V819,K821 | L820V | HNSC | 1 | V819 | F818V | UCEC | 1 | I924,N922 | F923L | UCEC | 1 | D917 | H915R | UCEC | 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 BUB1 |
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 |
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 | V819 | L820V | -1.0286561 | K821 | L820V | -1.0286561 | K54 | E55K | -0.9357739 | D917 | H915R | -0.63835529 | V819 | F818V | -0.3682074 | N922 | F923L | -0.34031634 | I924 | F923L | -0.34031634 |
(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 BUB1 from PDB |
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Differential gene expression and gene-gene network for BUB1 |
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 BUB1 |
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 BUB1 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of BUB1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MG | MAGNESIUM(2+) | 4r8q | A | D917 | III | Peptide ligand (THR,LYS,ILE,ASP,THR,THR,SER,PHE,LEU,ALA,ASN,LEU,LYS,LEU,HIS) | 4a1g | B | K54 | III | Peptide ligand (THR,LYS,ILE,ASP,THR,THR,SER,PHE,LEU,ALA,ASN,LEU,LYS,LEU,HIS) | 4a1g | C | K54 | III | Peptide ligand (THR,LYS,ILE,ASP,THR,THR,SER,PHE,LEU,ALA,ASN,LEU,LYS,LEU,HIS,THR) | 4a1g | D | K54 | ATP | ATP | 3e7e | A | K821 D917 N922 I924 | ADP | ADP | 4qpm | A | K821 N922 I924 | ADP | ADP | 4qpm | B | K821 N922 I924 | MG | MAGNESIUM(2+) | 3e7e | A | N922 | MG | MAGNESIUM(2+) | 4qpm | A | N922 | MG | MAGNESIUM(2+) | 4qpm | B | N922 | MG | MAGNESIUM(2+) | 4r8q | A | N922 | MG | MAGNESIUM(2+) | 5dmz | A | N922 | MG | MAGNESIUM(2+) | 5dmz | B | N922 | ADP | ADP | 4r8q | A | V819 K821 N922 I924 | ADP | ADP | 5dmz | A | V819 K821 N922 I924 | ADP | ADP | 5dmz | B | V819 K821 N922 I924 |
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Conservation information for LBS of BUB1 |
Multiple alignments for O43683 in multiple species |
LBS | AA sequence | # species | Species |
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