PDGFRA Cell Lysate – Tissue Lysate

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. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]

PDGFRA: 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. Particularly important for kidney development since mice heterozygous for the receptor exhibit defective kidney phenotypes. Chromosomal rearrangments activate PDGFRalpha by fusion to BCR, causing atypical chronic myelogenous leukemia (CML), and to FIP1L1, causing idiopathic hypereosinophilic syndrome. Activating point mutations cause a minority of gastrointestinal stromal tumors (GIST). Promoter polymorphisms linked to neural tube defects including spina bifida, verified by mouse mutant model. Inhibitors: Gleevec, Sutent. OMIM: Two alternatively-spliced isoforms have been described.

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

Chromosomal Location of Human Ortholog: 4q12

Cellular Component: microvillus; membrane; integral to plasma membrane; cytoplasm; plasma membrane; nucleus; intrinsic to plasma membrane; external side of plasma membrane

Molecular Function: vascular endothelial growth factor receptor activity; protein binding; protein homodimerization activity; platelet-derived growth factor binding; platelet-derived growth factor receptor binding; platelet-derived growth factor alpha-receptor activity; transmembrane receptor protein tyrosine kinase activity; ATP binding

Biological Process: estrogen metabolic process; extracellular matrix organization and biogenesis; regulation of chemotaxis; peptidyl-tyrosine phosphorylation; wound healing; nerve growth factor receptor signaling pathway; viral reproduction; protein amino acid autophosphorylation; platelet-derived growth factor receptor signaling pathway; cardiac myofibril assembly; palate development; elevation of cytosolic calcium ion concentration; positive regulation of fibroblast proliferation; Leydig cell differentiation; embryonic digestive tract morphogenesis; luteinization; positive regulation of cell proliferation; male genitalia development; epidermal growth factor receptor signaling pathway; phosphoinositide-mediated signaling; fibroblast growth factor receptor signaling pathway; adrenal gland development; in utero embryonic development; positive regulation of phosphoinositide 3-kinase activity; embryonic cranial skeleton morphogenesis; embryonic skeletal morphogenesis; odontogenesis of dentine-containing teeth; positive regulation of phosphoinositide 3-kinase cascade; cell activation; innate immune response; hemopoietic progenitor cell differentiation; positive regulation of DNA replication; positive regulation of cell migration; lung development

Disease: Gastrointestinal Stromal Tumor; Hypereosinophilic Syndrome, Idiopathic