ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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 cardiac ventricle morphogenesis; outflow tract morphogenesis; and regulation of smooth muscle tissue development. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix and extracellular space. 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 |
| 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 | 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 | |||||||||||
| UniProtKB:A0AC58JJV5 | InterPro | 1258 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers