Gene
fbln1
- ID
- ZDB-GENE-990415-73
- Name
- fibulin 1
- Symbol
- fbln1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity and peptidase activator activity. Involved in several processes, including embryonic medial fin morphogenesis; mesenchymal cell migration; and skin morphogenesis. Predicted to localize to extracellular region. Is expressed in atrioventricular canal; mesenchyme median fin fold; mesoderm; somite; and tail bud. Orthologous to human FBLN1 (fibulin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| synpolydactyly | Alliance | Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses | 608180 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000020 | Anaphylatoxin/fibulin |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR026823 | Complement Clr-like EGF domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR017048 | Fibulin-1 |
| Family | IPR050751 | Extracellular matrix structural protein |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Length | Anaphylatoxin/fibulin | Complement Clr-like EGF domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Extracellular matrix structural protein | Fibulin-1 | Growth factor receptor cysteine-rich domain superfamily | NOTCH1 EGF-like calcium-binding domain |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B3DH18
|
681 | ||||||||||
|
UniProtKB:O42182
|
681 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available