P53, Activating Ligand (PDGFRB) Protein

This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Jul 2008]

PDGFRB: a receptor tyrosine kinase of the PDGFR family that binds members of the platelet-derived growth factor family. The identity of the growth factor bound determines whether the functional receptor is a homodimer or a heterodimer, composed of both PDGFR-alpha and -beta. Ligand binding induces receptor dimerization and autophosphorylation, thereby recruiting SH2-containing proteins including Grb2, Src, GAP, PTPN11, PI3 kinase, PLC-gamma and Nck. Regulates cell growth, actin reorganization, migration and differentiation. A variety of myeloproliferative disorders and cancers result from translocations that activate PDGFRbeta by fusion with proteins such as TEL/ETV6, H2, CEV14/TRP11, rabaptin 5, and huntington interacting protein 1. Gleevec treatment of TEL fusions has been successful. Overexpressed in metastatic medulloblastoma. Inhibitors: Gleevec, Sutent.

Protein type: Protein kinase, TK; Oncoprotein; Membrane protein, integral; EC 2.7.10.1; Kinase, protein; Protein kinase, tyrosine (receptor); TK group; PDGFR family

Chromosomal Location of Human Ortholog: 5q33.1

Cellular Component: lysosomal lumen; cell surface; focal adhesion; membrane; cytoplasmic membrane-bound vesicle; cytoplasm; apical plasma membrane; plasma membrane; integral to membrane; nucleus; intrinsic to plasma membrane

Molecular Function: protein binding; platelet activating factor receptor activity; platelet-derived growth factor binding; platelet-derived growth factor beta-receptor activity; protein-tyrosine kinase activity; platelet-derived growth factor receptor binding; phosphoinositide 3-kinase binding; platelet-derived growth factor receptor activity; protein kinase binding; ATP binding; receptor binding

Biological Process: positive regulation of phosphoprotein phosphatase activity; peptidyl-tyrosine phosphorylation; nerve growth factor receptor signaling pathway; wound healing; protein amino acid autophosphorylation; response to toxin; positive regulation of smooth muscle cell proliferation; positive regulation of collagen biosynthetic process; cardiac myofibril assembly; platelet-derived growth factor receptor signaling pathway; positive regulation of smooth muscle cell migration; signal transduction; response to estradiol stimulus; positive regulation of MAP kinase activity; smooth muscle development; positive regulation of cell proliferation; tissue homeostasis; phosphatidylinositol metabolic process; inner ear development; regulation of peptidyl-tyrosine phosphorylation; epidermal growth factor receptor signaling pathway; cell migration; response to retinoic acid; phosphoinositide-mediated signaling; fibroblast growth factor receptor signaling pathway; positive regulation of mitosis; adrenal gland development; positive regulation of chemotaxis; in utero embryonic development; positive regulation of phosphoinositide 3-kinase activity; positive regulation of phosphoinositide 3-kinase cascade; G-protein coupled receptor protein signaling pathway; glycosaminoglycan biosynthetic process; response to hyperoxia; response to hydrogen peroxide; skeletal morphogenesis; regulation of actin cytoskeleton organization and biogenesis; innate immune response; negative regulation of apoptosis; positive regulation of cell migration

Disease: Myeloproliferative Disorder, Chronic, With Eosinophilia; Myofibromatosis, Infantile, 1; Basal Ganglia Calcification, Idiopathic, 1; Basal Ganglia Calcification, Idiopathic, 4