Gene
ltbp3
- ID
- ZDB-GENE-060526-130
- Name
- latent transforming growth factor beta binding protein 3
- Symbol
- ltbp3 Nomenclature History
- Previous Names
-
- si:ch211-247o20.1
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity and growth factor binding activity. Involved in transforming growth factor beta receptor signaling pathway. Acts upstream of or within several processes, including heart morphogenesis; miRNA-mediated post-transcriptional gene silencing; and smooth muscle cell proliferation. Predicted to be located in extracellular matrix and extracellular region. Is expressed in several structures, including cardiac muscle myoblast; digestive system; heart primordium; notochord; and pericardial region. Human ortholog(s) of this gene implicated in brachyolmia-amelogenesis imperfecta syndrome and geleophysic dysplasia 3. Orthologous to human LTBP3 (latent transforming growth factor beta binding protein 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| brachyolmia-amelogenesis imperfecta syndrome | Alliance | Dental anomalies and short stature | 601216 |
| geleophysic dysplasia 3 | Alliance | Geleophysic dysplasia 3 | 617809 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR013032 | EGF-like, conserved site |
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR017878 | TB domain |
| Domain | IPR026823 | Complement Clr-like EGF domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR050751 | Extracellular matrix structural protein |
| Family | IPR052080 | von Willebrand factor C/EGF & Fibrillin |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR036773 | TGF-beta binding (TB) domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Additional Resources | Length | Complement Clr-like EGF domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like, conserved site | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Extracellular matrix structural protein | Growth factor receptor cysteine-rich domain superfamily | NOTCH1 EGF-like calcium-binding domain | TB domain | TGF-beta binding (TB) domain superfamily | von Willebrand factor C/EGF & Fibrillin |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BCL4 | InterPro | 1205 | ||||||||||||
| UniProtKB:A0A8M2BCQ0 | InterPro | 1248 | ||||||||||||
| UniProtKB:F1QFX6 | InterPro | 1258 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available