LTBP3 Gene Summary [Human]
The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Details
| Type | Protein Coding |
| Official Symbol | LTBP3 |
| Official Name | latent transforming growth factor beta binding protein 3 [Source:HGNC Symbol;Acc:HGNC:6716] |
| Ensembl ID | ENSG00000168056 |
| Bio databases IDs | |
| Aliases | latent transforming growth factor beta binding protein 3 |
| Synonyms | DASS, GPHYSD3, Latent transforming growth factor beta binding protein 3, Latent transforming growth factor β binding protein 3, LOC100128383, Ltbp2, mFLJ00070, pp6425, STHAG6 |
| 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 LTBP3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Complement Clr-like EGF-like
- TB domain
- EGF domain
- protein binding
- TGFbeta binding
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- major depression
- dental anomalies and short stature
- non-insulin-dependent diabetes mellitus
- growth failure
- open-angle glaucoma
- osteoarthritis
- juvenile dermatomyositis
- glaucoma
- osteosclerosis
- kyphosis
role in cell
- growth
- proliferation
- differentiation
- angiogenesis by
- intravasation by
- processing in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LTBP3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of bone mineralization
- lung saccule development
- bone remodeling
- bone mineralization
- positive regulation of bone resorption
- positive regulation of mesenchymal stem cell differentiation
- bone morphogenesis
- chondrocyte differentiation
- transforming growth factor beta receptor signaling pathway
- negative regulation of chondrocyte differentiation
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- extracellular region
Molecular Function
What the gene product does at the molecular level
- transforming growth factor beta binding
- protein binding
- calcium ion binding