Gene
bmp1a
- ID
- ZDB-GENE-060818-1
- Name
- bone morphogenetic protein 1a
- Symbol
- bmp1a Nomenclature History
- Previous Names
-
- frf
- frilly fins
- unm t31169
- unm_t31169
- wdd
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Exhibits peptidase activity. Involved in several processes, including collagen biosynthetic process; determination of ventral identity; and fin development. Used to study osteogenesis imperfecta and osteogenesis imperfecta type 13. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 13. Is expressed in several structures, including alar plate midbrain region; central nervous system; mesenchyme median fin fold; mesoderm; and optic vesicle. Orthologous to human BMP1 (bone morphogenetic protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 28 figures from 11 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| osteogenesis imperfecta type 13 | Alliance | Osteogenesis imperfecta, type XIII | 614856 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR000859 | CUB domain |
| Domain | IPR001506 | Peptidase M12A |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR006026 | Peptidase, metallopeptidase |
| Domain | IPR034036 | Tolloid/BMP1 peptidase domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR015446 | Bone morphogenetic protein 1/tolloid-like protein |
| Homologous_superfamily | IPR024079 | Metallopeptidase, catalytic domain superfamily |
| Homologous_superfamily | IPR035914 | Spermadhesin, CUB domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Length | Bone morphogenetic protein 1/tolloid-like protein | CUB domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Metallopeptidase, catalytic domain superfamily | NOTCH1 EGF-like calcium-binding domain | Peptidase M12A | Peptidase, metallopeptidase | Spermadhesin, CUB domain superfamily | Tolloid/BMP1 peptidase domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1REM3
|
976 | ||||||||||||
|
UniProtKB:Q2ABP1
|
986 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available