TGFBR1 Antibody – Rabbit Polyclonal

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]

TGFBR1: a TKL kinase of the serine/threonine-protein kinase receptor (STKR) family. R1 and R2 TGF-beta receptors dimerize after binding TGF-beta at the cell surface. Found in all tissues; most abundant in placenta and least abundant in brain and heart.

Protein type: Kinase, protein; Protein kinase, Ser/Thr (receptor); Protein kinase, TKL; Membrane protein, integral; Receptor, misc.; EC 2.7.11.30; TKL group; STKR family; Type1 subfamily

Chromosomal Location of Human Ortholog: 9q22

Cellular Component: tight junction; membrane; cell; plasma membrane; receptor complex; endosome

Molecular Function: metal ion binding; punt binding; protein kinase activity; transforming growth factor beta receptor activity; protein serine/threonine kinase activity; protein binding; transforming growth factor beta binding; transforming growth factor beta receptor activity, type I; growth factor binding; receptor signaling protein activity; SMAD binding; ATP binding; receptor signaling protein serine/threonine kinase activity

Biological Process: blastocyst development; collagen fibril organization; activation of MAPKK activity; positive regulation of transcription, DNA-dependent; heart development; negative regulation of chondrocyte differentiation; activin receptor signaling pathway; cell motility involved in cell locomotion; protein amino acid phosphorylation; post-embryonic development; anterior/posterior pattern formation; extracellular structure organization and biogenesis; transforming growth factor beta receptor signaling pathway; germ cell migration; kidney development; cell cycle arrest; neuron fate commitment; embryonic cranial skeleton morphogenesis; positive regulation of cell growth; parathyroid gland development; endothelial cell activation; mesenchymal cell differentiation; regulation of gene expression; negative regulation of endothelial cell proliferation; endothelial cell migration; positive regulation of endothelial cell proliferation; lens development in camera-type eye; wound healing; regulation of protein ubiquitination; apoptosis; palate development; signal transduction; regulation of transcription, DNA-dependent; positive regulation of cell proliferation; angiogenesis; skeletal development; positive regulation of filopodium formation; pharyngeal system development; thymus development; in utero embryonic development; male gonad development; peptidyl-threonine phosphorylation; positive regulation of cell motility; positive regulation of protein kinase B signaling cascade; peptidyl-serine phosphorylation; skeletal morphogenesis; regulation of protein binding; artery morphogenesis; epithelial to mesenchymal transition; negative regulation of transforming growth factor beta receptor signaling pathway

Disease: Multiple Self-healing Squamous Epithelioma, Susceptibility To