Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57154
Gene name Gene Name - the full gene name approved by the HGNC.
SMAD specific E3 ubiquitin protein ligase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMURF1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT006796 hsa-miR-17-5p Luciferase reporter assay, qRT-PCR, Western blot 21898695
MIRT042442 hsa-miR-424-5p CLASH 23622248
MIRT054756 hsa-miR-497-5p Luciferase reporter assay, Immunohistochemistry, Western blot 24858688
MIRT054796 hsa-miR-15b-5p Luciferase reporter assay, qRT-PCR, Western blot 24435757
MIRT726482 hsa-miR-15a-5p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605568 16807 ENSG00000198742
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Associations from Text Mining Disease 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