mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for UBR1
Gene summary
Basic gene Info.Gene symbolUBR1
Gene nameubiquitin protein ligase E3 component n-recognin 1
CytomapUCSC genome browser: 15q13
Type of geneprotein-coding
DescriptionE3 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 date20141222
dbXrefs MIM : 605981
Ensembl : ENSG00000159459
HPRD : 09342
Vega : OTTHUMG00000130702
ProteinUniProt: Q8IWV7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_UBR1
BioGPS: 197131
PathwayNCI Pathway Interaction Database: UBR1
Pathway Commons: UBR1
ContextiHOP: UBR1
ligand binding site mutation search in PubMed: UBR1
UCL Cancer Institute: UBR1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0071233cellular response to leucine20298436

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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of UBR1 and the right PPI network was created from samples without mutations in the LBS of UBR1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for UBR1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0175692Johanson Blizzard syndrome8Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for UBR1
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of UBR1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of UBR1
Multiple alignments for Q8IWV7 in multiple species
LBSAA sequence# speciesSpecies
C112ETTYSCRDCAI2Homo sapiens, Mus musculus
C112EVFYRCKTCSV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C115YSCRDCAIDPT2Homo sapiens, Mus musculus
C115YRCKTCSVDSN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C124PTCVLCMDCFQ2Homo sapiens, Mus musculus
C124SNSALCVKCFR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C127VLCMDCFQDSV1Homo sapiens
C127ALCVKCFRATS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C127VLCMDCFQSSV1Mus musculus
C149G-GGFCDCGDT2Homo sapiens, Mus musculus
C149GSGGCCDCGNA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C151GGFCDCGDTEA2Homo sapiens, Mus musculus
C151GGCCDCGNAAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C163KTGPFCVNHEP1Homo sapiens
C163IGDVSCKIHSH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C163KTGPFCVDHEP1Mus musculus
C99GAFQLCGRVFK1Homo sapiens
C99TCESKCGHIFR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C99GAFQLCGKVFK1Mus musculus
H133FQDSVHKNHRY1Homo sapiens
H133FRATSHKDHET1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H133FQSSVHKNHRY1Mus musculus
H136SVHKNHRYKMH2Homo sapiens, Mus musculus
H136TSHKDHETSFT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H166PFCVNHEPGRA1Homo sapiens
H166VSCKIHSHEED1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H166PFCVDHEPGRA1Mus musculus

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