TGFBR1 Antibody – Goat 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: EC 2.7.11.30; Kinase, protein; Membrane protein, integral; Protein kinase, Ser/Thr (receptor); Protein kinase, TKL; Receptor, misc.; STKR family; TKL group; Type1 subfamily

Chromosomal Location of Human Ortholog: 9q22

Cellular Component: cell surface; lipid raft; plasma membrane; receptor complex; tight junction

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

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

Disease: Multiple Self-healing Squamous Epithelioma, Susceptibility To