SMAD5 Gene Summary [Human]
The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Details
| Type | Protein Coding |
| Official Symbol | SMAD5 |
| Official Name | SMAD family member 5 [Source:HGNC Symbol;Acc:HGNC:6771] |
| Ensembl ID | ENSG00000113658 |
| Bio databases IDs | |
| Aliases | SMAD family member 5 |
| Synonyms | 1110051M15Rik, DWFC, hSmad5, JV5-1, MADH5, MusMLP, SMAD family member 5 |
| 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 SMAD5 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
- transcription regulator
- MH2 domain
- nucleic acid binding
- protein binding
- sequence-specific DNA binding
- N-terminal Mad Homology 1 (MH1) domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- DEAD/H-box RNA helicase binding
- MH1 domain
- C-terminal Mad Homology 2 (MH2) domain
Pathways
Biological processes and signaling networks where the SMAD5 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Adipogenesis pathway
- BMP signaling pathway
- Cardiomyocyte Differentiation via BMP Receptors
- Cellular Effects of Sildenafil (Viagra)
- Factors Promoting Cardiogenesis in Vertebrates
- HIPPO signaling
- Human Embryonic Stem Cell Pluripotency
- Iron homeostasis signaling pathway
- Molecular Mechanisms of Cancer
- Mouse Embryonic Stem Cell Pluripotency
- Osteoarthritis Pathway
- Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
- Role of Osteoblasts, Osteoclasts and Chondrocytes in Rheumatoid Arthritis
- TGF-β Signaling
- Transcriptional Regulatory Network in Embryonic Stem Cells
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- edema
- non-insulin-dependent diabetes mellitus
- osteogenesis imperfecta type III
- colorectal cancer
- hypotrophy
- exencephaly
- uterine leiomyoma
- leiomyomatosis
- osteoporosis
role in cell
- cell viability
- expression in
- proliferation
- activation in
- apoptosis
- migration
- differentiation
- number
- upregulation in
- colony formation
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
- Cytoplasm
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMAD5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transforming growth factor beta receptor signaling pathway
- anatomical structure morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of osteoblast differentiation
- cardiac muscle contraction
- bone development
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of transcription, DNA-dependent
- BMP signaling pathway
- osteoblast differentiation
- germ cell development
- signal transduction
- embryonic pattern specification
- cardiac conduction system development
- SMAD protein signal transduction
- osteoblast fate commitment
- Mullerian duct regression
- regulation of transcription from RNA polymerase II promoter
- negative regulation of gene expression
- erythrocyte differentiation
- ureteric bud development
- negative regulation of apoptotic process
- cell differentiation
- cellular response to organic cyclic compound
- cartilage development
Cellular Component
Where in the cell the gene product is active
- SMAD protein complex
- nucleus
- cytoplasm
- mitochondrion
- SMAD2-SMAD3 protein complex
- cytosol
- macromolecular complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- ubiquitin protein ligase binding
- protein binding
- metal ion binding
- DEAD/H-box RNA helicase binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- I-SMAD binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity