Homo sapiens Protein: PDGFRA
InnateDB Protein IDBP-18856.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PDGFRA
Protein Name platelet-derived growth factor receptor, alpha polypeptide
Species Homo sapiens
Ensembl Protein ENSP00000257290
InnateDB Gene IDBG-18854 (PDGFRA)
Protein Structure
UniProt Annotation
Function Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor. {ECO:0000269PubMed:10734113, ECO:0000269PubMed:10947961, ECO:0000269PubMed:11297552, ECO:0000269PubMed:12522257, ECO:0000269PubMed:1646396, ECO:0000269PubMed:1709159, ECO:0000269PubMed:17141222, ECO:0000269PubMed:20972453, ECO:0000269PubMed:21224473, ECO:0000269PubMed:21596750, ECO:0000269PubMed:2554309, ECO:0000269PubMed:8188664, ECO:0000269PubMed:8760137, ECO:0000269PubMed:8943348}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:14644164, ECO:0000269PubMed:2554309, ECO:0000269PubMed:8188664}; Single- pass type I membrane protein {ECO:0000269PubMed:14644164, ECO:0000269PubMed:2554309, ECO:0000269PubMed:8188664}. Note=The activated receptor is rapidly internalized and degraded.
Disease Associations Note=A chromosomal aberration involving PDGFRA is found in some cases of hypereosinophilic syndrome. Interstitial chromosomal deletion del(4)(q12q12) causes the fusion of FIP1L1 and PDGFRA (FIP1L1-PDGFRA). Mutations that cause overexpression and/or constitutive activation of PDGFRA may be a cause of hypereosinophilic syndrome. {ECO:0000269PubMed:12808148}.Gastrointestinal stromal tumor (GIST) [MIM:606764]: Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery. {ECO:0000269PubMed:12522257, ECO:0000269PubMed:15928335}. Note=The gene represented in this entry may be involved in disease pathogenesis. Mutations causing PDGFRA constitutive activation have been found in gastrointestinal stromal tumors lacking KIT mutations (PubMed:12522257). {ECO:0000269PubMed:12522257}.
Tissue Specificity Detected in platelets (at protein level). Widely expressed. Detected in brain, fibroblasts, smooth muscle, heart, and embryo. Expressed in primary and metastatic colon tumors and in normal colon tissue. {ECO:0000269PubMed:2536956, ECO:0000269PubMed:7896447, ECO:0000269PubMed:8188664}.
Number of Interactions This gene and/or its encoded proteins are associated with 52 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 52 [view]
Protein-Protein 52 [view]
Protein-DNA 0
Protein-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0005018 platelet-derived growth factor alpha-receptor activity
GO:0005021 vascular endothelial growth factor-activated receptor activity
GO:0005161 platelet-derived growth factor receptor binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0038085 vascular endothelial growth factor binding
GO:0042803 protein homodimerization activity
GO:0048407 platelet-derived growth factor binding
Biological Process
GO:0001553 luteinization
GO:0001701 in utero embryonic development
GO:0001775 cell activation
GO:0002244 hematopoietic progenitor cell differentiation
GO:0006468 protein phosphorylation
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0008210 estrogen metabolic process
GO:0008284 positive regulation of cell proliferation
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0008585 female gonad development
GO:0009653 anatomical structure morphogenesis
GO:0009887 organ morphogenesis
GO:0010544 negative regulation of platelet activation
GO:0010863 positive regulation of phospholipase C activity
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0016032 viral process
GO:0016477 cell migration
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0023019 signal transduction involved in regulation of gene expression
GO:0030198 extracellular matrix organization
GO:0030324 lung development
GO:0030325 adrenal gland development
GO:0030335 positive regulation of cell migration
GO:0030539 male genitalia development
GO:0033327 Leydig cell differentiation
GO:0035790 platelet-derived growth factor receptor-alpha signaling pathway
GO:0038091 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0042060 wound healing
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043552 positive regulation of phosphatidylinositol 3-kinase activity
GO:0045087 innate immune response
GO:0045740 positive regulation of DNA replication
GO:0046777 protein autophosphorylation
GO:0048008 platelet-derived growth factor receptor signaling pathway
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048015 phosphatidylinositol-mediated signaling
GO:0048146 positive regulation of fibroblast proliferation
GO:0048557 embryonic digestive tract morphogenesis
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048704 embryonic skeletal system morphogenesis
GO:0048705 skeletal system morphogenesis
GO:0050920 regulation of chemotaxis
GO:0055003 cardiac myofibril assembly
GO:0060021 palate development
GO:0060325 face morphogenesis
GO:0060326 cell chemotaxis
GO:0061298 retina vasculature development in camera-type eye
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0070527 platelet aggregation
GO:0071230 cellular response to amino acid stimulus
GO:0072277 metanephric glomerular capillary formation
GO:2000249 regulation of actin cytoskeleton reorganization
GO:2000739 regulation of mesenchymal stem cell differentiation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005902 microvillus
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031226 intrinsic component of plasma membrane
Protein Structure and Domains
InterPro IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR007110 Immunoglobulin-like domain
IPR011009 Protein kinase-like domain
IPR013098 Immunoglobulin I-set
IPR016243 Tyrosine-protein kinase, CSF-1/PDGF receptor
IPR020635 Tyrosine-protein kinase, catalytic domain
PFAM PF00069
Post-translational Modifications
SwissProt P16234
PhosphoSite PhosphoSite-P16234
UniProt Splice Variant
Entrez Gene 5156
UniGene Hs.74615
RefSeq NP_006197
OMIM 173490
HPRD 01429
EMBL AC098587 AC138779 AK316578 AY229892 BC015186 BC063414 D50017 M21574 M22734
GenPept AAA60048 AAA96715 AAH15186 AAH63414 AAP69563 BAA08742 BAG38166