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 enable metalloendopeptidase activity. Predicted to be involved in dorsal/ventral pattern formation and protein processing. Predicted to act upstream of or within proteolysis. Predicted to be active in extracellular space. Is expressed in margin. 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