Gene Gene information from NCBI Gene database.
Entrez ID 57154
Gene name SMAD specific E3 ubiquitin protein ligase 1
Gene symbol SMURF1
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7q22.1
Summary This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative s
miRNA miRNA information provided by mirtarbase database.
584
miRTarBase ID miRNA Experiments Reference
MIRT006796 hsa-miR-17-5p Luciferase reporter assayqRT-PCRWestern blot 21898695
MIRT042442 hsa-miR-424-5p CLASH 23622248
MIRT054756 hsa-miR-497-5p Luciferase reporter assayImmunohistochemistryWestern blot 24858688
MIRT054796 hsa-miR-15b-5p Luciferase reporter assayqRT-PCRWestern blot 24435757
MIRT726482 hsa-miR-15a-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 11278251, 19937093
GO:0004842 Function Ubiquitin-protein transferase activity IDA 10458166, 19937093
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005160 Function Transforming growth factor beta receptor binding IPI 12151385
GO:0005515 Function Protein binding IPI 15231748, 19914168, 19937093, 20580715, 20621832, 20937913, 21382345, 21572392, 21708152, 22020285, 22921829, 23032291, 25249323, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605568 16807 ENSG00000198742
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCE7
Protein name E3 ubiquitin-protein ligase SMURF1 (hSMURF1) (EC 2.3.2.26) (HECT-type E3 ubiquitin transferase SMURF1) (SMAD ubiquitination regulatory factor 1) (SMAD-specific E3 ubiquitin-protein ligase 1)
Protein function E3 ubiquitin-protein ligase that acts as a negative regulator of BMP signaling pathway. Mediates ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes ubiquitination and subsequent p
PDB 2LAZ , 2LB0 , 2LB1 , 2LTX , 3PYC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 13 115 C2 domain Domain
PF00397 WW 236 265 WW domain Domain
PF00397 WW 308 337 WW domain Domain
PF00632 HECT 449 757 HECT-domain (ubiquitin-transferase) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:23999003). {ECO:0000269|PubMed:23999003}.
Sequence
Sequence length 757
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
B-Cell Lymphomas B-Cell Lymphoma BEFREE 31778769
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 24828823 Associate
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 28881580, 30335548
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 24828823 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 34614303 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18927080, 24241683, 29433542, 30244169, 31456194
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18927080, 23184937, 24241683, 32462972 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 25249323, 32462972, 34614303 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 24089522, 25311538 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 21382345, 28581524
★☆☆☆☆
Found in Text Mining only