SMURF1
SMAD Specific E3 Ubiquitin Protein Ligase 1
Gene Information Card
| Symbol | SMURF1 |
|---|---|
| Full Name | SMAD Specific E3 Ubiquitin Protein Ligase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 57154 ncbi.nlm.nih.gov/gene/57154 |
| Ensembl ID | ENSG00000106366 |
| UniProt ID | Q9HCE7 |
| OMIM ID | 605568 |
| HGNC ID | 16807 |
| Aliases | SMURF1, KIAA1625, hSMURF1 |
Description
SMURF1 encodes a HECT domain E3 ubiquitin ligase that negatively regulates TGF-beta and BMP signaling pathways by targeting SMAD proteins and other substrates for ubiquitination and proteasomal degradation. It plays roles in cell polarity, migration, and bone homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of TGF-beta/BMP signaling via altered SMURF1 expression or activity | PMID: 21502567 |
| Osteoarthritis | SMURF1-mediated degradation of SMAD1/5 in chondrocytes | PMID: 22956769 |
| Paget disease of bone | SMURF1 variants affecting osteoclast differentiation | PMID: 21909107 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Brain | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 8.9 | Medium expression |
| MCF7 | 6.5 | Low expression |
| A549 | 10.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1195C>T (p.Arg399Trp) | Missense | <0.01% | Altered substrate binding |
| c.1678G>A (p.Glu560Lys) | Missense | <0.01% | Reduced catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the HECT domain reduce ubiquitin ligase activity, impairing SMAD degradation.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may enhance degradation of tumor suppressors.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• BMP signaling pathway (Reactome: R-HSA-201451)
Protein Summary
SMURF1 is a 757-amino acid protein containing a C2 domain, two WW domains, and a HECT domain. It functions as an E3 ubiquitin ligase that targets SMAD1, SMAD5, and SMAD7 for degradation, thereby modulating TGF-beta and BMP signaling. It also ubiquitinates non-SMAD substrates such as RhoA and MEKK2, influencing cytoskeletal dynamics and cell migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMURF1 Knockout HEK293 Cell Line | EDJ-KQ405 | Human | 57154 | Details Get a Quote |
| SMURF1 Knockout A-549 Cell Line | EDJ-KQ17989 | Human | 57154 | Details Get a Quote |
| SMURF1 Knockout HCT 116 Cell Line | EDJ-KQ18656 | Human | 57154 | Details Get a Quote |
| SMURF1 Knockout HeLa Cell Line | EDJ-KQ18657 | Human | 57154 | Details Get a Quote |
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