Gene
bmpr1aa
- ID
- ZDB-GENE-000502-1
- Name
- bone morphogenetic protein receptor, type IAa
- Symbol
- bmpr1aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have SMAD binding activity and transforming growth factor beta receptor activity, type I. Involved in BMP signaling pathway; circulatory system development; and dorsal/ventral pattern formation. Localizes to BMP receptor complex. Human ortholog(s) of this gene implicated in hereditary mixed polyposis syndrome 2; intestinal disease; and juvenile polyposis syndrome. Is expressed in several structures, including blastoderm; digestive system; germ ring; ovarian follicle; and posterior cardinal vein. Orthologous to human BMPR1A (bone morphogenetic protein receptor type 1A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 12 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 |
|---|---|---|---|
| hereditary mixed polyposis syndrome 2 | Alliance | Polyposis syndrome, hereditary mixed, 2 | 610069 |
| juvenile polyposis syndrome | Alliance | Polyposis, juvenile intestinal | 174900 |
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 | 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 | Ser/Thr protein kinase, TGFB receptor | Snake toxin-like superfamily |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QNI7
|
427 | ||||||||
|
UniProtKB:Q1RLX1
|
527 | ||||||||
|
UniProtKB:B3DJG0
|
526 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bmpr1aa-201
(1)
|
Ensembl | 4,147 nt | ||
| mRNA |
bmpr1aa-204
(1)
|
Ensembl | 2,171 nt | ||
| mRNA |
bmpr1aa-205
(1)
|
Ensembl | 2,423 nt | ||
| ncRNA |
bmpr1aa-002
(1)
|
Ensembl | 474 nt | ||
| ncRNA |
bmpr1aa-003
(1)
|
Ensembl | 713 nt |
Interactions and Pathways
Plasmids