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mutLBSgeneDB |
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| Gene summary for SMURF1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SMURF1 |
| Gene name | SMAD specific E3 ubiquitin protein ligase 1 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 7q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001199847.1, NM_020429.2,NM_181349.2, | |
| Description | E3 ubiquitin ligase SMURF1E3 ubiquitin-protein ligase SMURF1SMAD-specific E3 ubiquitin-protein ligase 1Smad ubiquitination regulatory factor 1Smad-specific E3 ubiquitin ligase 1hSMURF1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 605568 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000198742 | ||
| HPRD : 06902 | ||
| Vega : OTTHUMG00000150272 | ||
| Protein | UniProt: Q9HCE7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SMURF1 | |
| BioGPS: 57154 | ||
| Pathway | NCI Pathway Interaction Database: SMURF1 | |
| KEGG: SMURF1 | ||
| REACTOME: SMURF1 | ||
| Pathway Commons: SMURF1 | ||
| Context | iHOP: SMURF1 | |
| ligand binding site mutation search in PubMed: SMURF1 | ||
| UCL Cancer Institute: SMURF1 | ||
| 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:0000209 | protein polyubiquitination | 19937093 | GO:0006611 | protein export from nucleus | 11278251 | GO:0016567 | protein ubiquitination | 11278251 | GO:0030154 | cell differentiation | 10458166 | GO:0030509 | BMP signaling pathway | 21572392 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 11278251 | GO:0030579 | ubiquitin-dependent SMAD protein catabolic process | 11278251 | GO:0032801 | receptor catabolic process | 12151385 | GO:0034394 | protein localization to cell surface | 12151385 | GO:0042787 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 10458166 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 11278251 |
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| Ligand binding site mutations for SMURF1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T245 | T245R | BLCA | 1 | T245 | T245A | 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 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 |
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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 | T245 | T245A | -1.3412515 | T245 | T245R | -0.95604212 |
| (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 |
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| 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) |
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| Phenotype information for SMURF1 |
| 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 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. |
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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 SMURF1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (THR,SER,SER,ASP,PRO,GLY,SER,PRO,PHE,GLN) | 2lb0 | A | T245 |
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| Conservation information for LBS of SMURF1 |
| Multiple alignments for Q9HCE7 in multiple species |
| LBS | AA sequence | # species | Species |
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