SMAD7 Gene Summary [Human]
The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Details
| Type | Protein Coding |
| Official Symbol | SMAD7 |
| Official Name | SMAD family member 7 [Source:HGNC Symbol;Acc:HGNC:6773] |
| Ensembl ID | ENSG00000101665 |
| Bio databases IDs | |
| Aliases | SMAD family member 7 |
| Synonyms | CRCS3, MADH7, MADH8, SMAD family member 7 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SMAD7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- SMAD binding
- transcription regulator
- MH2 domain
- PPXY motif
- beta-catenin binding
- transcription co-repressor
- protein binding activity, bridging
- protein binding
- receptor binding
- N-terminal Mad Homology 1 (MH1) domain
- proline tyrosine motif
- transforming growth factor-beta receptor binding
- MH1 domain
- collagen binding
- C-terminal Mad Homology 2 (MH2) domain
Pathways
Biological processes and signaling networks where the SMAD7 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cancer
- diabetes mellitus
- fibrosis
- proteinuria
- glomerulosclerosis
- colorectal cancer
- myelodysplastic syndrome
- atrial fibrillation
- androgenic alopecia
role in cell
- expression in
- migration
- differentiation
- degradation in
- apoptosis
- proliferation
- binding in
- cell death
- activation in
- G1 phase
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- fibrillar center
- Cytoplasm
- perinuclear region
- Plasma Membrane
- basal bodies
- centrosome
- cytosol
- nucleoplasm
- filopodia
- chromatin
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMAD7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ventricular cardiac muscle tissue morphogenesis
- positive regulation of cell-cell adhesion
- transforming growth factor beta receptor signaling pathway
- anatomical structure morphogenesis
- negative regulation of ubiquitin-protein ligase activity
- negative regulation of transcription from RNA polymerase II promoter
- regulation of epithelial to mesenchymal transition
- negative regulation of T-helper 17 type immune response
- negative regulation of epithelial to mesenchymal transition
- negative regulation of activin receptor signaling pathway
- negative regulation of peptidyl-serine phosphorylation
- negative regulation of protein ubiquitination
- negative regulation of SMAD protein import into nucleus
- SMAD protein signal transduction
- regulation of ventricular cardiomyocyte membrane depolarization
- artery morphogenesis
- ventricular septum morphogenesis
- regulation of transcription from RNA polymerase II promoter
- negative regulation of BMP signaling pathway
- cellular response to transforming growth factor beta stimulus
- protein complex localization
- response to laminar fluid shear stress
- negative regulation of peptidyl-threonine phosphorylation
- negative regulation of transcription by competitive promoter binding
- ureteric bud development
- negative regulation of T cell cytokine production
- cell differentiation
- negative regulation of T-helper 17 cell differentiation
- adherens junction assembly
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- negative regulation of ossification
- protein stabilization
- regulation of cardiac muscle contraction
- negative regulation of cell migration
- negative regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- adherens junction
- centrosome
- cytoplasm
- SMAD2-SMAD3 protein complex
- cytosol
- macromolecular complex
- chromatin
- plasma membrane
- fibrillar center
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ubiquitin protein ligase binding
- protein binding
- collagen binding
- transcription corepressor activity
- metal ion binding
- I-SMAD binding
- activin receptor binding
- beta-catenin binding
- type I transforming growth factor beta receptor binding