TGFBR1 is a transmembrane serine/threonine kinase in the TGFBR1 superfamily, which also includes ACVRs and BMPRs. Upon binding TGF-b, TGFBR2 dimerizes with and activates TGFBR1 via phosphorylation leading to downstream phosphorylation of SMADs by TGFBR1. TGFBR1 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).
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Protein Aliases: activin A receptor type II-like kinase, 53kDa; Activin A receptor type II-like protein kinase of 53kD; Activin receptor-like kinase 5; ALK-5; mutant transforming growth factor beta receptor I; ser; Serine/threonine-protein kinase receptor R4; SKR4; tgf beta receptor 1; TGF-beta receptor type I; TGF-beta receptor type-1; TGF-beta type I receptor; TGFR-1; TGFR1; Transfor; transforming growth factor beta receptor I; transforming growth factor, beta receptor 1; Transforming growth factor-beta receptor type I
Gene Aliases: AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; tbetaR-I; TGFBR1; TGFR-1
UniProt ID: (Human) P36897
Entrez Gene ID: (Human) 7046
Molecular Function: serine/threonine protein kinase receptor