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mutLBSgeneDB |
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| Gene summary for UBR1 |
 Gene summary |
| Basic gene Info. | Gene symbol | UBR1 |
| Gene name | ubiquitin protein ligase E3 component n-recognin 1 | |
| Synonyms | JBS | |
| Cytomap | UCSC genome browser: 15q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_174916.2, | |
| Description | E3 ubiquitin-protein ligase UBR1E3a ligaseN-recognin-1ubiquitin ligase E3 alpha-Iubiquitin-protein ligase E3-alphaubiquitin-protein ligase E3-alpha-1ubiquitin-protein ligase E3-alpha-I | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 605981 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000159459 | ||
| HPRD : 09342 | ||
| Vega : OTTHUMG00000130702 | ||
| Protein | UniProt: Q8IWV7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_UBR1 | |
| BioGPS: 197131 | ||
| Pathway | NCI Pathway Interaction Database: UBR1 | |
| KEGG: UBR1 | ||
| REACTOME: UBR1 | ||
| Pathway Commons: UBR1 | ||
| Context | iHOP: UBR1 | |
| ligand binding site mutation search in PubMed: UBR1 | ||
| UCL Cancer Institute: UBR1 | ||
| 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:0071233 | cellular response to leucine | 20298436 |
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| Ligand binding site mutations for UBR1 |
| 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 | C124 | V122A | COAD | 1 | C124 | C124S | LUAD | 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 UBR1 |
| 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 | C124 | V122A | -1.3807453 | C124 | C124S | -1.2651941 |
| (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 UBR1 from PDB |
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| Differential gene expression and gene-gene network for UBR1 |
| 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 UBR1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0175692 | Johanson Blizzard syndrome | 8 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for UBR1 |
| 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 UBR1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3ny1 | A | C124 | ZN | ZINC(2+) | 3ny1 | B | C124 |
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| Conservation information for LBS of UBR1 |
| Multiple alignments for Q8IWV7 in multiple species |
| LBS | AA sequence | # species | Species | C112 | ETTYSCRDCAI | 2 | Homo sapiens, Mus musculus | C112 | EVFYRCKTCSV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C115 | YSCRDCAIDPT | 2 | Homo sapiens, Mus musculus | C115 | YRCKTCSVDSN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C124 | PTCVLCMDCFQ | 2 | Homo sapiens, Mus musculus | C124 | SNSALCVKCFR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C127 | VLCMDCFQDSV | 1 | Homo sapiens | C127 | ALCVKCFRATS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C127 | VLCMDCFQSSV | 1 | Mus musculus | C149 | G-GGFCDCGDT | 2 | Homo sapiens, Mus musculus | C149 | GSGGCCDCGNA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C151 | GGFCDCGDTEA | 2 | Homo sapiens, Mus musculus | C151 | GGCCDCGNAAA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C163 | KTGPFCVNHEP | 1 | Homo sapiens | C163 | IGDVSCKIHSH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C163 | KTGPFCVDHEP | 1 | Mus musculus | C99 | GAFQLCGRVFK | 1 | Homo sapiens | C99 | TCESKCGHIFR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C99 | GAFQLCGKVFK | 1 | Mus musculus | H133 | FQDSVHKNHRY | 1 | Homo sapiens | H133 | FRATSHKDHET | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H133 | FQSSVHKNHRY | 1 | Mus musculus | H136 | SVHKNHRYKMH | 2 | Homo sapiens, Mus musculus | H136 | TSHKDHETSFT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H166 | PFCVNHEPGRA | 1 | Homo sapiens | H166 | VSCKIHSHEED | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H166 | PFCVDHEPGRA | 1 | Mus musculus |
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