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 enable SMAD binding activity and transforming growth factor beta receptor activity, type I. Acts upstream of or within BMP signaling pathway; dorsal/ventral pattern formation; and germ-line stem cell division. Predicted to be located in membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including head; immature eye; liver; notochord; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in acromesomelic dysplasia-3; brachydactyly type A1D; brachydactyly type A2; and osteochondrodysplasia. 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
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bmpr1bb-201
(1)
|
Ensembl | 933 nt | ||
| mRNA |
bmpr1bb-202
(1)
|
Ensembl | 1,608 nt |
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