Gene
tgfbr1a
- ID
- ZDB-GENE-051120-75
- Name
- transforming growth factor, beta receptor 1 a
- Symbol
- tgfbr1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have SMAD binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Predicted to be involved in several processes, including heart development; protein phosphorylation; and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to localize to activin receptor complex. Human ortholog(s) of this gene implicated in Ferguson-Smith tumor; Loeys-Dietz syndrome 1; Lynch syndrome; and urinary bladder cancer. Is expressed in brain; endoderm; eye; heart; and pharyngeal arch. Orthologous to human TGFBR1 (transforming growth factor beta receptor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Bensimon-Brito et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Loeys-Dietz syndrome 1 | Alliance | Loeys-Dietz syndrome 1 | 609192 |
| {Multiple self-healing squamous epithelioma, susceptibility to} | 132800 |
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:B0EXP6
|
500 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tgfbr1a-201
(1)
|
Ensembl | 1,703 nt |
Interactions and Pathways
Plasmids
No data available