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 enable SMAD binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in vascular endothelial cell proliferation. Predicted to be located in membrane. Predicted to be part of activin receptor complex. Predicted to be active in plasma membrane. Is expressed in brain; endoderm; eye; heart; and pharyngeal arch. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 1; Lynch syndrome; carcinoma (multiple); colorectal cancer; and urinary bladder cancer. 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