Gene: Pdgfra

Basic information

Tag Content
Uniprot ID P26618; Q3TQ37; Q62046; Q7TSJ3; Q8C4N3;
Entrez ID 18595
Genbank protein ID BAC38283.1; AAA39904.1; AAA39733.1; BAE23004.1; BAE27808.1; BAE37548.1; AAH53036.1;
Genbank nucleotide ID NM_011058.3; NM_001083316.2; NM_001347718.1; XM_006504262.3; NM_001347719.1; XM_006504263.3; XM_006504261.3;
Ensembl protein ID ENSMUSP00000143891; ENSMUSP00000000476; ENSMUSP00000143906; ENSMUSP00000127173;
Ensembl nucleotide ID ENSMUSG00000029231
Gene name Platelet-derived growth factor receptor alpha
Gene symbol Pdgfra
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E12.5, E13.5, E14.5
Data sources Manually collected
Reference 27856617; 17143286; 9226440; 12490557; 26250625; 17499702; 11782318;
Functional description 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.
Sequence
MGTSHQVFLV LSCLLTGPGL ISCQLLLPSI LPNENEKIVQ LNSSFSLRCV GESEVSWQHP 60
MSEEDDPNVE IRSEENNSGL FVTVLEVVNA SAAHTGWYTC YYNHTQTDES EIEGRHIYIY 120
VPDPDMAFVP LGMTDSLVIV EEDDSAIIPC RTTDPETQVT LHNNGRLVPA SYDSRQGFNG 180
TFSVGPYICE ATVKGRTFKT SEFNVYALKA TSELNLEMDA RQTVYKAGET IVVTCAVFNN 240
EVVDLQWTYP GEVRNKGITM LEEIKLPSIK LVYTLTVPKA TVKDSGEYEC AARQATKEVK 300
EMKRVTISVH EKGFVEIEPT FGQLEAVNLH EVREFVVEVQ AYPTPRISWL KDNLTLIENL 360
TEITTDVQKS QETRYQSKLK LIRAKEEDSG HYTIIVQNED DVKSYTFELS TLVPASILDL 420
VDDHHGSGGG QTVRCTAEGT PLPEIDWMIC KHIKKCNNDT SWTVLASNVS NIITELPRRG 480
RSTVEGRVSF AKVEETIAVR CLAKNNLSVV ARELKLVAPT LRSELTVAAA VLVLLVIVIV 540
SLIVLVVIWK QKPRYEIRWR VIESISPDGH EYIYVDPMQL PYDSRWEFPR DGLVLGRILG 600
SGAFGKVVEG TAYGLSRSQP VMKVAVKMLK PTARSSEKQA LMSELKIMTH LGPHLNIVNL 660
LGACTKSGPI YIITEYCFYG DLVNYLHKNR DSFMSQHPEK PKKDLDIFGL NPADESTRSY 720
VILSFENNGD YMDMKQADTT QYVPMLERKE VSKYSDIQRS LYDRPASYKK KSMLDSEVKN 780
LLSDDDSEGL TLLDLLSFTY QVARGMEFLA SKNCVHRDLA ARNVLLAQGK IVKICDFGLA 840
RDIMHDSNYV SKGSTFLPVK WMAPESIFDN LYTTLSDVWS YGILLWEIFS LGGTPYPGMM 900
VDSTFYNKIK SGYRMAKPDH ATSEVYEIMV QCWNSEPEKR PSFYHLSEIV ENLLPGQYKK 960
SYEKIHLDFL KSDHPAVARM RVDSDNAYIG VTYKNEEDKL KDWEGGLDEQ RLSADSGYII 1020
PLPDIDPVPE EEDLGKRNRH SSQTSEESAI ETGSSSSTFI KREDETIEDI DMMDDIGIDS 1080
SDLVEDSFL 1089

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologPDGFRA282301F1MX49Bos taurusPredictionMore>>
1:1 orthologPDGFRA442860A0A5F4CSF2Canis lupus familiarisPredictionMore>>
1:1 orthologPDGFRA102174007A0A452DR61Capra hircusPredictionMore>>
1:1 orthologPDGFRA100059815F7A2X2Equus caballusPredictionMore>>
1:1 orthologPDGFRA5156P16234Homo sapiensPredictionMore>>
1:1 orthologPdgfra18595P26618CPOE12.5, E13.5, E14.5Mus musculusPublicationMore>>
1:1 orthologPDGFRA461318H2QPH4Pan troglodytesPredictionMore>>
1:1 orthologPDGFRAA0A287AYB4Sus scrofaPredictionMore>>
1:1 orthologPdgfra25267G3V6A0Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004672 protein kinase activityISO
GO:0004714 transmembrane receptor protein tyrosine kinase activityISO
GO:0004714 transmembrane receptor protein tyrosine kinase activityIBA
GO:0005018 platelet-derived growth factor alpha-receptor activityISS
GO:0005018 platelet-derived growth factor alpha-receptor activityISO
GO:0005018 platelet-derived growth factor alpha-receptor activityIDA
GO:0005018 platelet-derived growth factor alpha-receptor activityIBA
GO:0005021 vascular endothelial growth factor-activated receptor activityISS
GO:0005021 vascular endothelial growth factor-activated receptor activityISO
GO:0005161 platelet-derived growth factor receptor bindingISO
GO:0005524 ATP bindingIEA
GO:0019838 growth factor bindingIBA
GO:0038085 vascular endothelial growth factor bindingISO
GO:0042803 protein homodimerization activityISS
GO:0042803 protein homodimerization activityISO
GO:0043548 phosphatidylinositol 3-kinase bindingISO
GO:0044877 protein-containing complex bindingIDA
GO:0048407 platelet-derived growth factor bindingISO
GO:0048407 platelet-derived growth factor bindingIDA
GO:0048407 platelet-derived growth factor bindingTAS
GO:0048407 platelet-derived growth factor bindingIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0001553 luteinizationIGI
GO:0001553 luteinizationIMP
GO:0001701 in utero embryonic developmentIMP
GO:0002244 hematopoietic progenitor cell differentiationIBA
GO:0002244 hematopoietic progenitor cell differentiationIMP
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathwayIBA
GO:0007204 positive regulation of cytosolic calcium ion concentrationISS
GO:0007204 positive regulation of cytosolic calcium ion concentrationISO
GO:0007275 multicellular organism developmentIBA
GO:0008210 estrogen metabolic processIGI
GO:0008284 positive regulation of cell population proliferationISS
GO:0008284 positive regulation of cell population proliferationISO
GO:0008585 female gonad developmentIGI
GO:0009653 anatomical structure morphogenesisIMP
GO:0009887 animal organ morphogenesisIMP
GO:0010544 negative regulation of platelet activationISS
GO:0010544 negative regulation of platelet activationISO
GO:0010863 positive regulation of phospholipase C activityISO
GO:0016477 cell migrationIMP
GO:0018108 peptidyl-tyrosine phosphorylationISS
GO:0018108 peptidyl-tyrosine phosphorylationISO
GO:0018108 peptidyl-tyrosine phosphorylationIDA
GO:0023019 signal transduction involved in regulation of gene expressionIDA
GO:0030198 extracellular matrix organizationIMP
GO:0030324 lung developmentIMP
GO:0030325 adrenal gland developmentIGI
GO:0030335 positive regulation of cell migrationISS
GO:0030335 positive regulation of cell migrationISO
GO:0030539 male genitalia developmentIMP
GO:0033327 Leydig cell differentiationIMP
GO:0033674 positive regulation of kinase activityIBA
GO:0034614 cellular response to reactive oxygen speciesISO
GO:0035790 platelet-derived growth factor receptor-alpha signaling pathwayISO
GO:0035790 platelet-derived growth factor receptor-alpha signaling pathwayIDA
GO:0038091 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayISS
GO:0038091 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayISO
GO:0042060 wound healingIMP
GO:0042475 odontogenesis of dentin-containing toothIMP
GO:0043552 positive regulation of phosphatidylinositol 3-kinase activityISS
GO:0043552 positive regulation of phosphatidylinositol 3-kinase activityISO
GO:0046777 protein autophosphorylationISS
GO:0046777 protein autophosphorylationISO
GO:0046777 protein autophosphorylationIDA
GO:0048008 platelet-derived growth factor receptor signaling pathwayISO
GO:0048008 platelet-derived growth factor receptor signaling pathwayIMP
GO:0048015 phosphatidylinositol-mediated signalingISS
GO:0048015 phosphatidylinositol-mediated signalingISO
GO:0048146 positive regulation of fibroblast proliferationISS
GO:0048146 positive regulation of fibroblast proliferationISO
GO:0048557 embryonic digestive tract morphogenesisIMP
GO:0048701 embryonic cranial skeleton morphogenesisIMP
GO:0048705 skeletal system morphogenesisIMP
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylationISO
GO:0050920 regulation of chemotaxisISO
GO:0055003 cardiac myofibril assemblyIGI
GO:0060021 roof of mouth developmentIMP
GO:0060325 face morphogenesisIMP
GO:0060326 cell chemotaxisISO
GO:0060326 cell chemotaxisIMP
GO:0060437 lung growthISO
GO:0061047 positive regulation of branching involved in lung morphogenesisISO
GO:0061298 retina vasculature development in camera-type eyeIGI
GO:0070374 positive regulation of ERK1 and ERK2 cascadeISS
GO:0070374 positive regulation of ERK1 and ERK2 cascadeISO
GO:0070527 platelet aggregationISS
GO:0070527 platelet aggregationISO
GO:0071230 cellular response to amino acid stimulusIDA
GO:0072277 metanephric glomerular capillary formationIGI
GO:2000739 regulation of mesenchymal stem cell differentiationISS
GO:2000739 regulation of mesenchymal stem cell differentiationISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005623 cellIEA
GO:0005634 nucleusISS
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmISO
GO:0005737 cytoplasmISS
GO:0005737 cytoplasmISO
GO:0005737 cytoplasmIDA
GO:0005794 Golgi apparatusIDA
GO:0005886 plasma membraneISO
GO:0005887 integral component of plasma membraneISS
GO:0005887 integral component of plasma membraneISO
GO:0005887 integral component of plasma membraneIBA
GO:0005902 microvillusIDA
GO:0005929 ciliumIDA
GO:0009897 external side of plasma membraneIDA
GO:0009986 cell surfaceIDA
GO:0030054 cell junctionISO
GO:0030424 axonISO
GO:0031226 intrinsic component of plasma membraneISO
GO:0032991 protein-containing complexISO
GO:0043235 receptor complexIBA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1257604 PIP3 activates AKT signalingIEA
R-MMU-1280215 Cytokine Signaling in Immune systemIEA
R-MMU-162582 Signal TransductionIEA
R-MMU-168256 Immune SystemIEA
R-MMU-186763 Downstream signal transductionIEA
R-MMU-186797 Signaling by PDGFIEA
R-MMU-199418 Negative regulation of the PI3K/AKT networkIEA
R-MMU-5673001 RAF/MAP kinase cascadeIEA
R-MMU-5683057 MAPK family signaling cascadesIEA
R-MMU-5684996 MAPK1/MAPK3 signalingIEA
R-MMU-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingIEA
R-MMU-9006925 Intracellular signaling by second messengersIEA
R-MMU-9006934 Signaling by Receptor Tyrosine KinasesIEA
R-MMU-9607240 FLT3 SignalingIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0067 ATP-binding
KW-1003 Cell membrane
KW-0966 Cell projection
KW-0145 Chemotaxis
KW-0217 Developmental protein
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0333 Golgi apparatus
KW-0393 Immunoglobulin domain
KW-0418 Kinase
KW-0472 Membrane
KW-0547 Nucleotide-binding
KW-0597 Phosphoprotein
KW-0656 Proto-oncogene
KW-0675 Receptor
KW-1185 Reference proteome
KW-0677 Repeat
KW-0732 Signal
KW-0808 Transferase
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0829 Tyrosine-protein kinase
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR011009 Kinase-like_dom_sf
IPR027290 PDGFRA
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008266 Tyr_kinase_AS
IPR020635 Tyr_kinase_cat_dom
IPR001824 Tyr_kinase_rcpt_3_CS

PROSITE

PROSITE ID PROSITE Term
PS50835 IG_LIKE
PS00107 PROTEIN_KINASE_ATP
PS50011 PROTEIN_KINASE_DOM
PS00109 PROTEIN_KINASE_TYR
PS00240 RECEPTOR_TYR_KIN_III

Pfam

Pfam ID Pfam Term
PF07679 I-set
PF07714 Pkinase_Tyr

Protein-protein interaction

Protein-miRNA interaction