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: Kinase, protein; Oncoprotein; Membrane protein, integral; EC 2.7.10.1; Protein kinase, tyrosine (receptor); Protein kinase, TK; TK group; PDGFR family
Cellular Component: cell surface; cytoplasm; cytosol; external side of plasma membrane; integral to membrane; integral to plasma membrane; intrinsic to plasma membrane; membrane; microvillus; nucleus; plasma membrane; protein complex
Molecular Function: ATP binding; phosphoinositide 3-kinase binding; platelet-derived growth factor alpha-receptor activity; platelet-derived growth factor binding; platelet-derived growth factor receptor binding; protein complex binding; protein dimerization activity; protein homodimerization activity; protein kinase activity; transmembrane receptor protein tyrosine kinase activity; vascular endothelial growth factor receptor activity
Biological Process: adrenal gland development; anatomical structure morphogenesis; cardiac myofibril assembly; cell migration; chemotaxis; elevation of cytosolic calcium ion concentration; embryonic cranial skeleton morphogenesis; embryonic digestive tract morphogenesis; embryonic skeletal morphogenesis; estrogen metabolic process; extracellular matrix organization and biogenesis; female gonad development; gliogenesis; hemopoietic progenitor cell differentiation; in utero embryonic development; inner ear development; Leydig cell differentiation; lung development; luteinization; male genitalia development; odontogenesis of dentine-containing teeth; organ morphogenesis; palate development; peptidyl-tyrosine phosphorylation; phosphoinositide-mediated signaling; platelet-derived growth factor receptor signaling pathway; positive regulation of cell migration; positive regulation of cell proliferation; positive regulation of DNA replication; positive regulation of fibroblast proliferation; positive regulation of phosphoinositide 3-kinase activity; protein amino acid autophosphorylation; regulation of chemotaxis; response to cytokine stimulus; response to estradiol stimulus; response to estrogen stimulus; response to hormone stimulus; response to hyperoxia; response to inorganic substance; response to organic substance; skeletal morphogenesis; wound healing
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