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mutLBSgeneDB |
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| Gene summary for MIB1 |
 Gene summary |
| Basic gene Info. | Gene symbol | MIB1 |
| Gene name | mindbomb E3 ubiquitin protein ligase 1 | |
| Synonyms | DIP-1|DIP1|LVNC7|MIB|ZZANK2|ZZZ6 | |
| Cytomap | UCSC genome browser: 18q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_020774.3, | |
| Description | DAPK-interacting protein 1E3 ubiquitin-protein ligase MIB1ubiquitin ligase mind bombzinc finger ZZ type with ankyrin repeat domain protein 2 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 608677 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000101752 | ||
| HPRD : 06660 | ||
| Vega : OTTHUMG00000131753 | ||
| Protein | UniProt: Q86YT6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MIB1 | |
| BioGPS: 57534 | ||
| Pathway | NCI Pathway Interaction Database: MIB1 | |
| KEGG: MIB1 | ||
| REACTOME: MIB1 | ||
| Pathway Commons: MIB1 | ||
| Context | iHOP: MIB1 | |
| ligand binding site mutation search in PubMed: MIB1 | ||
| UCL Cancer Institute: MIB1 | ||
| 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 MIB1 |
| 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 | C88 | T87S | LUSC | 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 MIB1 |
| 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 | C88 | T87S | -0.63420005 |
| (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 MIB1 from PDB |
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| Differential gene expression and gene-gene network for MIB1 |
| 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 MIB1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3554496 | LEFT VENTRICULAR NONCOMPACTION 7 | 1 | GeneticVariation |
| umls:C0036572 | Seizures | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MIB1 |
| 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 MIB1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4xi6 | A | C88 | ZN | ZINC(2+) | 4xi7 | A | C88 | ZN | ZINC(2+) | 4xib | A | C88 |
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| Conservation information for LBS of MIB1 |
| Multiple alignments for Q86YT6 in multiple species |
| LBS | AA sequence | # species | Species | A57 | WDNGTAANYRC | 4 | Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus | A58 | DNGTAANYRCS | 3 | Homo sapiens, Danio rerio, Mus musculus | A58 | DNGTAANYRCA | 1 | Drosophila melanogaster | C100 | GIRWKCAECTN | 3 | Homo sapiens, Danio rerio, Mus musculus | C100 | GIRWKCAECIN | 1 | Drosophila melanogaster | C103 | WKCAECTNYDL | 3 | Homo sapiens, Danio rerio, Mus musculus | C103 | WKCAECINYDL | 1 | Drosophila melanogaster | C109 | TNYDLCTVCYH | 2 | Homo sapiens, Mus musculus | C109 | INYDLCSICYH | 1 | Drosophila melanogaster | C109 | TNYDLCTTCYH | 1 | Danio rerio | C112 | DLCTVCYHGDK | 2 | Homo sapiens, Mus musculus | C112 | DLCSICYHGDK | 1 | Drosophila melanogaster | C112 | DLCTTCYHGDK | 1 | Danio rerio | C85 | HDGTMCDTCRQ | 3 | Homo sapiens, Danio rerio, Mus musculus | C85 | HEGTMCDTCRQ | 1 | Drosophila melanogaster | C88 | TMCDTCRQQPI | 4 | Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus | E46 | SFESPEEVVVV | 3 | Homo sapiens, Danio rerio, Mus musculus | E46 | NFESAEEVVVV | 1 | Drosophila melanogaster | E47 | FESPEEVVVVW | 3 | Homo sapiens, Danio rerio, Mus musculus | E47 | FESAEEVVVVW | 1 | Drosophila melanogaster | H118 | YHGDKHHLRHR | 4 | Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus | H122 | KHHLRHRFYRI | 4 | Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus | N59 | NGTAANYRCSG | 3 | Homo sapiens, Danio rerio, Mus musculus | N59 | NGTAANYRCAG | 1 | Drosophila melanogaster | Q29 | WKWGKQDGGEG | 3 | Homo sapiens, Danio rerio, Mus musculus | Q29 | WKWNKQDGGEG | 1 | Drosophila melanogaster | R61 | TAANYRCSGAY | 3 | Homo sapiens, Danio rerio, Mus musculus | R61 | TAANYRCAGAY | 1 | Drosophila melanogaster | T56 | VWDNGTAANYR | 4 | Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus | W26 | GPDWKWGKQDG | 3 | Homo sapiens, Danio rerio, Mus musculus | W26 | GPDWKWNKQDG | 1 | Drosophila melanogaster | Y60 | GTAANYRCSGA | 3 | Homo sapiens, Danio rerio, Mus musculus | Y60 | GTAANYRCAGA | 1 | Drosophila melanogaster |
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