TGF Beta Receptor I (Ab-165) (TGFBR1) Antibody – Rabbit

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

Chromosomal Location of Human Ortholog: 9q22

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

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

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

Disease: Multiple Self-healing Squamous Epithelioma, Susceptibility To