| Gene Symbol |
TGFBR1
|
| Gene Synonyms |
AAT5 ALK5 ESS1 LDS1 MSSE SKR4 TBRI ALK-5 LDS1A LDS2A TBR-i TGFR-1 ACVRLK4 tbetaR-I |
| Gene Full Name |
transforming growth factor beta receptor 1 |
| Gene Summary |
The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] |
| Alternative Names |
AAT 5 AAT5 Activin A receptor type II like kinase 53 kDa Activin A receptor type II like kinase 53kD Activin A receptor type II like protein kinase of 53kD activin A receptor type II-like kinase 53 kDa activin A receptor type II-like protein kinase of 53kD Activin receptor like kinase 5 Activin receptor-like kinase 5 ACVRLK 4 ACVRLK4 ALK 5 ALK-5 ALK5 LDS1A LDS2A MSSE Serine/threonine protein kinase receptor R4 Serine/threonine-protein kinase receptor R4 SKR 4 SKR4 TbetaR I TbetaR-I TGF beta receptor type 1 TGF beta receptor type I TGF beta type I receptor TGF-beta receptor type I TGF-beta receptor type-1 TGF-beta type I receptor TGFBR 1 TGFBR1 TGFBR1 protein TGFR 1 TGFR-1 TGFR1 TGFR1_HUMAN Transforming growth factor beta receptor 1 Transforming growth factor beta receptor I (activin A receptor type II like kinase 53kD) Transforming growth factor beta receptor I transforming growth factor beta receptor 1 transforming growth factor beta receptor I (activin A receptor type II-like kinase 53kD) Transforming growth factor-beta receptor type I |
| Molecular Weight(MW) |
56 kDa |
| Cellular Localization |
Cell membrane, Cell junction, tight junction, Cell surface, Membrane raft. |