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mutLBSgeneDB |
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| Gene summary for UCHL1 |
 Gene summary |
| Basic gene Info. | Gene symbol | UCHL1 |
| Gene name | ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) | |
| Synonyms | HEL-117|NDGOA|PARK5|PGP 9.5|PGP9.5|PGP95|Uch-L1 | |
| Cytomap | UCSC genome browser: 4p14 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004181.4, | |
| Description | epididymis luminal protein 117neuron cytoplasmic protein 9.5ubiquitin C-terminal hydrolaseubiquitin carboxyl-terminal hydrolase isozyme L1ubiquitin thioesterase L1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 191342 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000154277 | ||
| HPRD : 01877 | ||
| Vega : OTTHUMG00000099377 | ||
| Protein | UniProt: P09936 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_UCHL1 | |
| BioGPS: 7345 | ||
| Pathway | NCI Pathway Interaction Database: UCHL1 | |
| KEGG: UCHL1 | ||
| REACTOME: UCHL1 | ||
| Pathway Commons: UCHL1 | ||
| Context | iHOP: UCHL1 | |
| ligand binding site mutation search in PubMed: UCHL1 | ||
| UCL Cancer Institute: UCHL1 | ||
| 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:0016579 | protein deubiquitination | 9521656 | GO:0043407 | negative regulation of MAP kinase activity | 19477270 |
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| Ligand binding site mutations for UCHL1 |
| 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 | H161 | H161Y | SKCM | 3 | R178 | P180S | STAD | 1 | R153 | R153Q | 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 UCHL1 |
| 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 | R178 | P180S | -1.0706589 | R153 | R153Q | -1.0682844 | H161 | H161Y | -0.58119278 |
| (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 UCHL1 from PDB |
| PDB ID | PDB title | PDB structure | 2ETL | Crystal Structure of Ubiquitin Carboxy-terminal Hydrolase L1 (UCH-L1) |  |
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| Differential gene expression and gene-gene network for UCHL1 |
| 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 UCHL1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007131 | Carcinoma, Non-Small-Cell Lung | 4 | Biomarker |
| umls:C2239176 | Carcinoma, Hepatocellular | 2 | AlteredExpression, Biomarker |
| umls:C0014859 | Esophageal Neoplasms | 2 | Biomarker |
| umls:C0016978 | Gallbladder Neoplasms | 1 | Biomarker |
| umls:C0019284 | Hernia, Diaphragmatic | 1 | Biomarker |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for UCHL1 |
| 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 UCHL1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GVE | METHYL 4-AMINOBUTANOATE | 3kvf | A | H161 | GVE | METHYL 4-AMINOBUTANOATE | 3kw5 | A | H161 | III | Peptide ligand (PHQ,VAL,ALA,GLU,CF0) | 4dm9 | A | R153 R178 | III | Peptide ligand (PHQ,VAL,ALA,GLU,CF0) | 4dm9 | B | R153 R178 |
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| Conservation information for LBS of UCHL1 |
| Multiple alignments for P09936 in multiple species |
| LBS | AA sequence | # species | Species | A57 | LFPLTA----- | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A57 | LFPLTAQRCFK | 1 | Bos taurus | C90 | TIGNSCGTIGL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F160 | DDKVNFHFILF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G87 | MKQTIGNSCGT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H161 | DKVNFHFILFN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I8 | LKPMEINPEML | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K157 | CRVDDKVNFHF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L52 | CALLLLFPLTA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L55 | LLLFPLTA--- | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L55 | LLLFPLTAQRC | 1 | Bos taurus | N159 | VDDKVNFHFIL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N88 | KQTIGNSCGTI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q84 | VYFMKQTIGNS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R153 | QEGQCRVDDKV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R178 | YELDGRMPFPV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S89 | QTIGNSCGTIG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V158 | RVDDKVNFHFI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus |
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