LTBP4 Gene Summary [Human]
The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | LTBP4 |
| Official Name | latent transforming growth factor beta binding protein 4 [Source:HGNC Symbol;Acc:HGNC:6717] |
| Ensembl ID | ENSG00000090006 |
| Bio databases IDs | |
| Aliases | latent transforming growth factor beta binding protein 4 |
| Synonyms | 2310046A13Rik, ARCL1C, latent transforming growth factor beta binding protein 4, latent transforming growth factor β binding protein 4, LTBP4L, LTBR4 |
| 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 LTBP4 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
- calcium ion binding
- TB domain
- EGF domain
- protein binding
- TGFbeta binding
- EGF-like domain
- growth factor
- 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
- chronic obstructive pulmonary disease
- fibrosis
- cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
- osteoarthritis
- inguinal hernia
- colorectal cancer
- nicotine dependence
- pulmonary emphysema
- cardiomyopathy
- infiltrating ductal breast carcinoma
role in cell
- growth
- proliferation
- deposition
- cross-sectional area
- deposition 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
- microfibrils
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LTBP4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cell growth
- transforming growth factor beta receptor signaling pathway
- protein folding
- regulation of transforming growth factor beta receptor signaling pathway
- hormone secretion
Cellular Component
Where in the cell the gene product is active
- extracellular space
- microfibril
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- transforming growth factor beta binding
- protein binding
- glycosaminoglycan binding
- calcium ion binding
- transforming growth factor beta-activated receptor activity
- integrin binding
- extracellular matrix structural constituent