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mutLBSgeneDB |
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| Gene summary for UBA52 |
 Gene summary |
| Basic gene Info. | Gene symbol | UBA52 |
| Gene name | ubiquitin A-52 residue ribosomal protein fusion product 1 | |
| Synonyms | CEP52|HUBCEP52|L40|RPL40 | |
| Cytomap | UCSC genome browser: 19p13.1-p12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001033930.1, NM_003333.3, | |
| Description | 60S ribosomal protein L40ubiquitin carboxyl extension protein 52ubiquitin-52 amino acid fusion proteinubiquitin-60S ribosomal protein L40ubiquitin-CEP52 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 191321 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000221983 | ||
| HPRD : 08931 | ||
| Vega : OTTHUMG00000183110 | ||
| Protein | UniProt: P62987 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_UBA52 | |
| BioGPS: 7311 | ||
| Pathway | NCI Pathway Interaction Database: UBA52 | |
| KEGG: UBA52 | ||
| REACTOME: UBA52 | ||
| Pathway Commons: UBA52 | ||
| Context | iHOP: UBA52 | |
| ligand binding site mutation search in PubMed: UBA52 | ||
| UCL Cancer Institute: UBA52 | ||
| 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 UBA52 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A28 | I30F | 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 UBA52 |
| 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 | A28 | I30F | -0.53667778 |
| (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 UBA52 from PDB |
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| Differential gene expression and gene-gene network for UBA52 |
| 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 UBA52 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for UBA52 |
| 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 UBA52 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ILE,LYS,TRP,ALA,CYS,GLU,TYR,CYS,THR,TYR,GLU,ASN,TRP,PRO,SER,ALA,ILE,LYS,CYS,THR,MET,CYS,ARG,ALA,GLN,ARG,PRO) | 4s1z | A | A28 | III | Peptide ligand (ILE,LYS,TRP,ALA,CYS,GLU,TYR,CYS,THR,TYR,GLU,ASN,TRP,PRO,SER,ALA,ILE,LYS,CYS,THR,MET,CYS,ARG,ALA,GLN,ARG) | 4s1z | B | A28 | III | Peptide ligand (ILE,LYS,TRP,ALA,CYS,GLU,TYR,CYS,THR,TYR,GLU,ASN,TRP,PRO,SER,ALA,ILE,LYS,CYS,THR,MET,CYS,ARG,ALA,GLN) | 4s1z | C | A28 | III | Peptide ligand (ILE,LYS,TRP,ALA,CYS,GLU,TYR,CYS,THR,TYR,GLU,ASN,TRP,PRO,SER,ALA,ILE,LYS,CYS,THR,MET,CYS,ARG,ALA,GLN,ARG,PRO) | 4s1z | E | A28 |
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| Conservation information for LBS of UBA52 |
| Multiple alignments for P62987 in multiple species |
| LBS | AA sequence | # species | Species | A28 | IENVKAKIQDK | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Drosophila melanogaster, Caenorhabditis elegans | A28 | IDNVKSKIQDK | 4 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D52 | GKQLEDGRTLS | 9 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Canis lupus familiaris, B | E24 | PSDTIENVKAK | 4 | Homo sapiens, Canis lupus familiaris, Bos taurus, Drosophila melanogaster | E24 | SSDTIDNVKSK | 4 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E24 | ASDTIENVKAK | 1 | Caenorhabditis elegans | E51 | AGKQLEDGRTL | 9 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Canis lupus familiaris, B | G53 | KQLEDGRTLSD | 9 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Canis lupus familiaris, B | N25 | SDTIENVKAKI | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Drosophila melanogaster, Caenorhabditis elegans | N25 | SDTIDNVKSKI | 4 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q49 | IFAGKQLEDGR | 9 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Canis lupus familiaris, B | S20 | LEVEPSDTIEN | 4 | Homo sapiens, Canis lupus familiaris, Bos taurus, Drosophila melanogaster | S20 | LEVESSDTIDN | 4 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S20 | LEVEASDTIEN | 1 | Caenorhabditis elegans | T22 | VEPSDTIENVK | 4 | Homo sapiens, Canis lupus familiaris, Bos taurus, Drosophila melanogaster | T22 | VESSDTIDNVK | 4 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T22 | VEASDTIENVK | 1 | Caenorhabditis elegans | T55 | LEDGRTLSDYN | 9 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Canis lupus familiaris, B |
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