Gene
bmp1b
- ID
- ZDB-GENE-060818-2
- Name
- bone morphogenetic protein 1b
- Symbol
- bmp1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity; metalloendopeptidase activity; and zinc ion binding activity. Predicted to be involved in proteolysis. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 13. Orthologous to human BMP1 (bone morphogenetic protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Ghersi et al., 2019
- 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 |
|---|---|---|---|
| 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 | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| 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 | Growth factor receptor cysteine-rich domain superfamily | Metallopeptidase, catalytic domain superfamily | NOTCH1 EGF-like calcium-binding domain | Peptidase M12A | Peptidase, metallopeptidase | Spermadhesin, CUB domain superfamily | Tolloid/BMP1 peptidase domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2B1Y0
|
970 | |||||||||||||
|
UniProtKB:Q2ABP0
|
969 |
Interactions and Pathways
No data available
Plasmids
No data available