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 SMURF1
Gene summary
Basic gene Info.Gene symbolSMURF1
Gene nameSMAD specific E3 ubiquitin protein ligase 1
CytomapUCSC genome browser: 7q22.1
Type of geneprotein-coding
DescriptionE3 ubiquitin ligase SMURF1E3 ubiquitin-protein ligase SMURF1SMAD-specific E3 ubiquitin-protein ligase 1Smad ubiquitination regulatory factor 1Smad-specific E3 ubiquitin ligase 1hSMURF1
Modification date20141222
dbXrefs MIM : 605568
Ensembl : ENSG00000198742
HPRD : 06902
Vega : OTTHUMG00000150272
ProteinUniProt: Q9HCE7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SMURF1
BioGPS: 57154
PathwayNCI Pathway Interaction Database: SMURF1
Pathway Commons: SMURF1
ContextiHOP: SMURF1
ligand binding site mutation search in PubMed: SMURF1
UCL Cancer Institute: SMURF1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0000209protein polyubiquitination19937093
GO:0006611protein export from nucleus11278251
GO:0016567protein ubiquitination11278251
GO:0030154cell differentiation10458166
GO:0030509BMP signaling pathway21572392
GO:0030512negative regulation of transforming growth factor beta receptor signaling pathway11278251
GO:0030579ubiquitin-dependent SMAD protein catabolic process11278251
GO:0032801receptor catabolic process12151385
GO:0034394protein localization to cell surface12151385
GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process10458166
GO:0043161proteasome-mediated ubiquitin-dependent protein catabolic process11278251

Ligand binding site mutations for SMURF1

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 SMURF1
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 SMURF1 from PDB

Differential gene expression and gene-gene network for SMURF1
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 SMURF1 and the right PPI network was created from samples without mutations in the LBS of SMURF1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for SMURF1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for SMURF1
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.
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 SMURF1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of SMURF1
Multiple alignments for Q9HCE7 in multiple species
LBSAA sequence# speciesSpecies

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