LTBP1 Gene Summary [Human]
The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | LTBP1 |
| Official Name | latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714] |
| Ensembl ID | ENSG00000049323 |
| Bio databases IDs | |
| Aliases | latent transforming growth factor beta binding protein 1, TGF-beta1-BP-1 |
| Synonyms | 9430031G15Rik, 9830146M04, ARCL2E, b2b1000Clo, latent transforming growth factor beta binding protein 1, latent transforming growth factor β binding protein 1, Ltbp1L, Tgfb, TGF-beta1-BP-1 |
| 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 LTBP1 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
- calcium-binding EGF-like domain
- TB domain
- central domain
- protein binding
- TGFbeta binding
- microfibril binding
- EGF-like domain
- 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
- diabetic nephropathy
- epithelial cancer
- metastasis
- autosomal recessive cutis laxa type IIE
- hepatocellular carcinoma
- liver cancer
- uterine leiomyoma
- leiomyomatosis
- osteoarthritis
- knee osteoarthritis
role in cell
- expression in
- migration
- production in
- differentiation
- activation
- growth
- phosphorylation in
- activation in
- proliferation
- apoptosis
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
- cell surface
- perinuclear region
- endoplasmic reticulum lumen
- microfibrils
- fibrils
- extracellular matrix
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LTBP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sequestering of TGFbeta in extracellular matrix
- establishment of protein localization in extracellular region
- transmembrane receptor protein serine/threonine kinase signaling pathway
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- microfibril
- macromolecular complex
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- transforming growth factor beta binding
- protein binding
- calcium ion binding
- transforming growth factor beta-activated receptor activity
- extracellular matrix structural constituent
- binding, bridging
- microfibril binding