Gene
bmpr1bb
- ID
- ZDB-GENE-090610-1
- Name
- bone morphogenetic protein receptor, type IBb
- Symbol
- bmpr1bb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have SMAD binding activity and transforming growth factor beta receptor activity, type I. Involved in BMP signaling pathway; dorsal/ventral pattern formation; and germ-line stem cell division. Predicted to localize to plasma membrane and receptor complex. Human ortholog(s) of this gene implicated in brachydactyly type A1D; brachydactyly type A2; and osteochondrodysplasia. Is expressed in several structures, including head; immature eye; liver; notochord; and pleuroperitoneal region. Orthologous to human BMPR1B (bone morphogenetic protein receptor type 1B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 8 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 |
|---|---|---|---|
| acromesomelic dysplasia-3 | Alliance | Acromesomelic dysplasia 3 | 609441 |
| brachydactyly type A1D | Alliance | Brachydactyly, type A1, D | 616849 |
| brachydactyly type A2 | Alliance | Brachydactyly, type A2 | 112600 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008271 | Serine/threonine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Domain | IPR000472 | Activin types I and II receptor domain |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR003605 | GS domain |
| Family | IPR000333 | Ser/Thr protein kinase, TGFB receptor |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR045860 | Snake toxin-like superfamily |
Domain Details Per Protein
| Protein | Length | Activin types I and II receptor domain | GS domain | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site | Serine-threonine/tyrosine-protein kinase, catalytic domain | Ser/Thr protein kinase, TGFB receptor | Snake toxin-like superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:C0L3D6
|
535 | |||||||||
|
UniProtKB:A8WG63
|
151 |
- Genome Browsers
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-bmpr1bb | polyclonal | Rabbit |
|
1 |
Plasmids
No data available