LOCUS NP_006197 1089 aa linear PRI 04-OCT-2003 DEFINITION platelet-derived growth factor receptor alpha precursor [Homo sapiens]. ACCESSION NP_006197 VERSION NP_006197.1 GI:5453870 DBSOURCE REFSEQ: accession NM_006206.2 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1089) AUTHORS Cools,J., DeAngelo,D.J., Gotlib,J., Stover,E.H., Legare,R.D., Cortes,J., Kutok,J., Clark,J., Galinsky,I., Griffin,J.D., Cross,N.C., Tefferi,A., Malone,J., Alam,R., Schrier,S.L., Schmid,J., Rose,M., Vandenberghe,P., Verhoef,G., Boogaerts,M., Wlodarska,I., Kantarjian,H., Marynen,P., Coutre,S.E., Stone,R. and Gilliland,D.G. TITLE A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome JOURNAL N. Engl. J. Med. 348 (13), 1201-1214 (2003) MEDLINE 22547205 PUBMED 12660384 REMARK GeneRIF: The hypereosinophilic syndrome may result from a novel fusion tyrosine kinase - FIP1L1-PDGFRalpha - that is a consequence of an interstitial chromosomal deletion. REFERENCE 2 (residues 1 to 1089) AUTHORS Heinrich,M.C., Corless,C.L., Duensing,A., McGreevey,L., Chen,C.J., Joseph,N., Singer,S., Griffith,D.J., Haley,A., Town,A., Demetri,G.D., Fletcher,C.D. and Fletcher,J.A. TITLE PDGFRA activating mutations in gastrointestinal stromal tumors JOURNAL Science 299 (5607), 708-710 (2003) MEDLINE 22448260 PUBMED 12522257 REMARK GeneRIF: KIT and PDGFRA mutations appear to be alternative and mutually exclusive oncogenic mechanisms in gastrointestinal stromal tumors REFERENCE 3 (residues 1 to 1089) AUTHORS Andrae,J., Molander,C., Smits,A., Funa,K. and Nister,M. TITLE Platelet-derived growth factor-B and -C and active alpha-receptors in medulloblastoma cells JOURNAL Biochem. Biophys. Res. Commun. 296 (3), 604-611 (2002) MEDLINE 22165484 PUBMED 12176024 REMARK GeneRIF: PDGFRA is endogenenously activated in medulloblastoma tumor cell lines REFERENCE 4 (residues 1 to 1089) AUTHORS Ribom,D., Andrae,J., Frielingsdorf,M., Hartman,M., Nister,M. and Smits,A. TITLE Prognostic value of platelet derived growth factor alpha receptor expression in grade 2 astrocytomas and oligoastrocytomas JOURNAL J. Neurol. Neurosurg. Psychiatr. 72 (6), 782-787 (2002) MEDLINE 22018241 PUBMED 12023424 REMARK GeneRIF: high expression associated with long survival in patients with grade 2 astrocytomas and oligoastrocytomas REFERENCE 5 (residues 1 to 1089) AUTHORS Kawagishi,J., Kumabe,T., Yoshimoto,T. and Yamamoto,T. TITLE Structure, organization, and transcription units of the human alpha-platelet-derived growth factor receptor gene, PDGFRA JOURNAL Genomics 30 (2), 224-232 (1995) MEDLINE 96163874 PUBMED 8586421 REFERENCE 6 (residues 1 to 1089) AUTHORS Mosselman,S., Claesson-Welsh,L., Kamphuis,J.S. and van Zoelen,E.J. TITLE Developmentally regulated expression of two novel platelet-derived growth factor alpha-receptor transcripts in human teratocarcinoma cells JOURNAL Cancer Res. 54 (1), 220-225 (1994) MEDLINE 94084698 PUBMED 8261442 REFERENCE 7 (residues 1 to 1089) AUTHORS Miki,T., Matsui,T., Heidaran,M.A. and Aaronson,S.A. TITLE An efficient directional cloning system to construct cDNA libraries containing full-length inserts at high frequency JOURNAL Gene 83 (1), 137-146 (1989) MEDLINE 90076959 PUBMED 2531695 REFERENCE 8 (residues 1 to 1089) AUTHORS Claesson-Welsh,L., Eriksson,A., Westermark,B. and Heldin,C.H. TITLE cDNA cloning and expression of the human A-type platelet-derived growth factor (PDGF) receptor establishes structural similarity to the B-type PDGF receptor JOURNAL Proc. Natl. Acad. Sci. U.S.A. 86 (13), 4917-4921 (1989) MEDLINE 89296915 PUBMED 2544881 REFERENCE 9 (residues 1 to 1089) AUTHORS Matsui,T., Heidaran,M., Miki,T., Popescu,N., La Rochelle,W., Kraus,M., Pierce,J. and Aaronson,S. TITLE Isolation of a novel receptor cDNA establishes the existence of two PDGF receptor genes JOURNAL Science 243 (4892), 800-804 (1989) MEDLINE 89130149 PUBMED 2536956 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from M21574.1 and D50001.1. Summary: 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 in knockout mice, where homozygosity is lethal, indicate that the alpha form of the platelet-derived growth factor receptor is particularly important for kidney development since mice heterozygous for the receptor exhibit defective kidney phenotypes. FEATURES Location/Qualifiers source 1..1089 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q11-q13" Protein 1..1089 /product="platelet-derived growth factor receptor alpha precursor" /EC_number="2.7.1.112" sig_peptide 1..23 mat_peptide 24..1089 /product="platelet-derived growth factor receptor alpha" Region 223..308 /region_name="Immunoglobulin" /note="IG" /db_xref="CDD:smart00409" Region 593..696 /region_name="Tyrosine kinase, catalytic domain" /note="TyrKc" /db_xref="CDD:smart00219" Region 779..953 /region_name="Tyrosine kinase, catalytic domain" /note="TyrKc" /db_xref="CDD:smart00219" Region 1041..1087 /region_name="serine-rich" CDS 1..1089 /gene="PDGFRA" /coded_by="NM_006206.2:395..3664" /note="go_component: integral to plasma membrane [goid 0005887] [evidence TAS] [pmid 8586421]; go_function: platelet-derived growth factor, alpha-receptor activity [goid 0005018] [evidence TAS] [pmid 10806482]; go_function: transmembrane receptor protein tyrosine kinase activity [goid 0004714] [evidence IEA]; go_function: ATP binding [goid 0005524] [evidence IEA]; go_function: receptor activity [goid 0004872] [evidence IEA]; go_function: transferase activity [goid 0016740] [evidence IEA]; go_process: cell surface receptor linked signal transduction [goid 0007166] [evidence TAS] [pmid 10806482]; go_process: signal transduction [goid 0007165] [evidence P] [pmid 8586421]; go_process: cell proliferation [goid 0008283] [evidence TAS] [pmid 10806482]; go_process: transmembrane receptor protein tyrosine kinase signaling pathway [goid 0007169] [evidence IEA]; go_process: protein amino acid phosphorylation [goid 0006468] [evidence IEA]" /db_xref="GeneID:5156" /db_xref="LocusID:5156" /db_xref="MIM:173490" ORIGIN 1 mgtshpaflv lgclltglsl ilcqlslpsi lpnenekvvq lnssfslrcf gesevswqyp 61 mseeessdve irneennsgl fvtvlevssa saahtglytc yynhtqteen elegrhiyiy 121 vpdpdvafvp lgmtdylviv edddsaiipc rttdpetpvt lhnsegvvpa sydsrqgfng 181 tftvgpyice atvkgkkfqt ipfnvyalka tseldlemea lktvyksget ivvtcavfnn 241 evvdlqwtyp gevkgkgitm leeikvpsik lvytltvpea tvkdsgdyec aarqatrevk 301 emkkvtisvh ekgfieikpt fsqleavnlh evkhfvvevr aypppriswl knnltlienl 361 teittdveki qeiryrsklk lirakeedsg hytivaqned avksytfell tqvpssildl 421 vddhhgstgg qtvrctaegt plpdiewmic kdikkcnnet swtilannvs niiteihsrd 481 rstvegrvtf akveetiavr claknllgae nrelklvapt lrseltvaaa vlvllvivii 541 slivlvviwk qkpryeirwr viesispdgh eyiyvdpmql pydsrwefpr dglvlgrvlg 601 sgafgkvveg tayglsrsqp vmkvavkmlk ptarssekqa lmselkimth lgphlnivnl 661 lgactksgpi yiiteycfyg dlvnylhknr dsflshhpek pkkeldifgl npadestrsy 721 vilsfenngd ymdmkqadtt qyvpmlerke vskysdiqrs lydrpasykk ksmldsevkn 781 llsddnsegl tlldllsfty qvargmefla skncvhrdla arnvllaqgk ivkicdfgla 841 rdimhdsnyv skgstflpvk wmapesifdn lyttlsdvws ygillweifs lggtpypgmm 901 vdstfynkik sgyrmakpdh atsevyeimv kcwnsepekr psfyhlseiv enllpgqykk 961 syekihldfl ksdhpavarm rvdsdnayig vtykneedkl kdweggldeq rlsadsgyii 1021 plpdidpvpe eedlgkrnrh ssqtseesai etgsssstfi kredetiedi dmmddigids 1081 sdlvedsfl //