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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs141532197 RCV005927515
Cervical cancer Likely benign rs141532197 RCV005927519
Clear cell carcinoma of kidney Likely benign rs141532197 RCV005927520
Colon adenocarcinoma Likely benign rs141532197 RCV005927514
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Renal Tubular Associate 39349238
Adenocarcinoma Associate 33506581
Bone Diseases Associate 24828823
Bone Diseases Metabolic Associate 24828823
Brain Neoplasms Associate 34614303
Breast Neoplasms Associate 18927080, 23184937, 24241683, 32462972
Carcinogenesis Associate 25249323, 32462972, 34614303
Carcinoma Hepatocellular Associate 24089522, 25311538
Cell Transformation Neoplastic Inhibit 25471937
Cell Transformation Neoplastic Associate 28321604