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mutLBSgeneDB |
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| Gene summary for MYLIP |
 Gene summary |
| Basic gene Info. | Gene symbol | MYLIP |
| Gene name | myosin regulatory light chain interacting protein | |
| Synonyms | IDOL|MIR | |
| Cytomap | UCSC genome browser: 6p23-p22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_013262.3, | |
| Description | E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptorE3 ubiquitin-protein ligase MYLIPband 4.1 superfamily member BZF1cellular modulator of immune recognition (c-MIR)inducible degrader of the LDL-receptormyosin regulatory lig | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610082 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000007944 | ||
| HPRD : 17621 | ||
| Vega : OTTHUMG00000016405 | ||
| Protein | UniProt: Q8WY64 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MYLIP | |
| BioGPS: 29116 | ||
| Pathway | NCI Pathway Interaction Database: MYLIP | |
| KEGG: MYLIP | ||
| REACTOME: MYLIP | ||
| Pathway Commons: MYLIP | ||
| Context | iHOP: MYLIP | |
| ligand binding site mutation search in PubMed: MYLIP | ||
| UCL Cancer Institute: MYLIP | ||
| 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 | GO:0016567 | protein ubiquitination | 14550572 |
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| Ligand binding site mutations for MYLIP |
| 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 | C387 | M388T | LUSC | 1 | C390 | C391F | OV | 1 | C402 | P401S | SKCM | 1 | C411 | A413T | STAD | 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 MYLIP |
| 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 | C387 | M388T | -1.2464559 | C402 | P401S | -1.2057399 | C390 | C391F | -0.17528736 | C411 | A413T | -0.063314943 |
| (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 MYLIP from PDB |
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| Differential gene expression and gene-gene network for MYLIP |
| 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 MYLIP |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0014175 | Endometriosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MYLIP |
| 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 MYLIP go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2yhn | A | C387 C390 C411 | ZN | ZINC(2+) | 2yhn | B | C387 C390 C411 | ZN | ZINC(2+) | 2yho | A | C387 C390 C411 | ZN | ZINC(2+) | 2yho | C | C387 C390 C411 | ZN | ZINC(2+) | 2yho | E | C387 C390 C411 | ZN | ZINC(2+) | 2yho | G | C387 C390 C411 | ZN | ZINC(2+) | 2yhn | A | C402 | ZN | ZINC(2+) | 2yhn | B | C402 | ZN | ZINC(2+) | 2yho | A | C402 | ZN | ZINC(2+) | 2yho | C | C402 | ZN | ZINC(2+) | 2yho | E | C402 | ZN | ZINC(2+) | 2yho | G | C402 |
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| Conservation information for LBS of MYLIP |
| Multiple alignments for Q8WY64 in multiple species |
| LBS | AA sequence | # species | Species | C387 | KEAMLCMVCCE | 2 | Homo sapiens, Rattus norvegicus | C387 | REALLCMLCCE | 1 | Danio rerio | C387 | KEAMLCMACCE | 1 | Mus musculus | C390 | MLCMVCCEEEI | 2 | Homo sapiens, Rattus norvegicus | C390 | LLCMLCCEEEI | 1 | Danio rerio | C390 | MLCMACCEEEI | 1 | Mus musculus | C402 | STFCPCGHTVC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C402 | AAFCPCGHMVC | 1 | Danio rerio | C408 | GHTVCCESCAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C408 | GHMVCCQNCAA | 1 | Danio rerio | C411 | VCCESCAAQLQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C411 | VCCQNCAAQLQ | 1 | Danio rerio | C418 | AQLQSCPVCRS | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | C421 | QSCPVCRSRVE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C421 | QSCPVCRSEVE | 1 | Danio rerio | H404 | FCPCGHTVCCE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H404 | FCPCGHMVCCQ | 1 | Danio rerio |
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