Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha. Protein Tyrosine Kinase (PTK) family; Platelet Derived Growth Factor Receptor (PDGFR) alpha; catalytic (c) domain. The PTKc family is part of a larger superfamily that includes the catalytic domains of other kinases such as protein serine/threonine kinases, RIO kinases, and phosphoinositide 3-kinase (PI3K). PTKs catalyze the transfer of the gamma-phosphoryl group from ATP to tyrosine (tyr) residues in protein substrates. PDGFR alpha is a receptor tyr kinase (RTK) containing an extracellular ligand-binding region with five immunoglobulin-like domains, a transmembrane segment, and an intracellular catalytic domain. The binding to its ligands, the PDGFs, leads to receptor dimerization, trans phosphorylation and activation, and intracellular signaling. PDGFR alpha forms homodimers or heterodimers with PDGFR beta, depending on the nature of the PDGF ligand. PDGF-AA, PDGF-AB, and PDGF-CC induce PDGFR alpha homodimerization. PDGFR signaling plays many roles in normal embryonic development and adult physiology. PDGFR alpha signaling is important in the formation of lung alveoli, intestinal villi, mesenchymal dermis, and hair follicles, as well as in the development of oligodendrocytes, retinal astrocytes, neural crest cells, and testicular cells. Aberrant PDGFR alpha expression is associated with some human cancers. Mutations in PDGFR alpha have been found within a subset of gastrointestinal stromal tumors (GISTs). An active fusion protein FIP1L1-PDGFR alpha, derived from interstitial deletion, is associated with idiopathic hypereosinophilic syndrome (HES) and chronic eosinophilic leukemia (CEL).
No pairwise interactions are available for this conserved domain.
Total Mutations Found: 467 Total Disease Mutations Found: 309 This domain occurred 114 times on human genes (277 proteins).
If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.
The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.
Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.
Range on the Protein:
Protein ID Protein Position
Domain Position:
Feature Name:
Total Found:
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