CBL and KIT

Data Source:
HPRD (in vivo)

		CBL	KIT
Description		Cbl proto-oncogene	KIT proto-oncogene, receptor tyrosine kinase
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GO Annotations	Cellular Component	Golgi Apparatus Cytosol Plasma Membrane Focal Adhesion Cilium Flotillin Complex Growth Cone Membrane Raft Perinuclear Region Of Cytoplasm	Fibrillar Center Acrosomal Vesicle Extracellular Space Plasma Membrane Integral Component Of Plasma Membrane Cell-cell Junction External Side Of Plasma Membrane Cytoplasmic Side Of Plasma Membrane Receptor Complex
	Molecular Function	Phosphotyrosine Residue Binding Ubiquitin-protein Transferase Activity Epidermal Growth Factor Receptor Binding Calcium Ion Binding Protein Binding SH3 Domain Binding Receptor Tyrosine Kinase Binding Phosphatidylinositol 3-kinase Regulatory Subunit Binding Cadherin Binding Ephrin Receptor Binding Ubiquitin Protein Ligase Activity	Protease Binding Protein Tyrosine Kinase Activity Transmembrane Receptor Protein Tyrosine Kinase Activity Stem Cell Factor Receptor Activity Protein Binding ATP Binding Cytokine Binding SH2 Domain Binding Protein Homodimerization Activity Metal Ion Binding
	Biological Process	Protein Polyubiquitination Ubiquitin-dependent Protein Catabolic Process Protein Monoubiquitination Cellular Response To DNA Damage Stimulus Signal Transduction Cell Surface Receptor Signaling Pathway Epidermal Growth Factor Receptor Signaling Pathway Negative Regulation Of Epidermal Growth Factor-activated Receptor Activity Transforming Growth Factor Beta Receptor Signaling Pathway Fibroblast Growth Factor Receptor Signaling Pathway Male Gonad Development Response To Gamma Radiation Positive Regulation Of Phosphatidylinositol 3-kinase Signaling Response To Activity Protein Ubiquitination Cytokine-mediated Signaling Pathway Regulation Of Rap Protein Signal Transduction Response To Testosterone Entry Of Bacterium Into Host Cell Cellular Response To Platelet-derived Growth Factor Stimulus Negative Regulation Of Epidermal Growth Factor Receptor Signaling Pathway Response To Starvation Negative Regulation Of Apoptotic Process Mast Cell Degranulation Response To Ethanol Positive Regulation Of Epidermal Growth Factor Receptor Signaling Pathway Response To Antibiotic Positive Regulation Of Receptor-mediated Endocytosis Membrane Organization Interleukin-6-mediated Signaling Pathway Neuron Death Cellular Response To Epidermal Growth Factor Stimulus Cellular Response To Oxygen-glucose Deprivation Negative Regulation Of Neuron Death Cellular Response To Nerve Growth Factor Stimulus Regulation Of Platelet-derived Growth Factor Receptor-alpha Signaling Pathway	MAPK Cascade Activation Of MAPK Activity Ovarian Follicle Development Hematopoietic Progenitor Cell Differentiation Myeloid Progenitor Cell Differentiation Lymphoid Progenitor Cell Differentiation Immature B Cell Differentiation Dendritic Cell Cytokine Production Mast Cell Chemotaxis Regulation Of Transcription By RNA Polymerase II Glycosphingolipid Metabolic Process Inflammatory Response Signal Transduction Transmembrane Receptor Protein Tyrosine Kinase Signaling Pathway Multicellular Organism Development Spermatogenesis Spermatid Development Positive Regulation Of Cell Population Proliferation Germ Cell Migration Regulation Of Cell Shape Visual Learning Male Gonad Development Positive Regulation Of Gene Expression Positive Regulation Of Phospholipase C Activity Positive Regulation Of Phosphatidylinositol 3-kinase Signaling Peptidyl-tyrosine Phosphorylation Cytokine-mediated Signaling Pathway Stem Cell Population Maintenance Lamellipodium Assembly Hemopoiesis B Cell Differentiation T Cell Differentiation Erythrocyte Differentiation Melanocyte Differentiation Positive Regulation Of Cell Migration Positive Regulation Of Pseudopodium Assembly Actin Cytoskeleton Reorganization Mast Cell Cytokine Production Positive Regulation Of Kinase Activity Somatic Stem Cell Population Maintenance Embryonic Hemopoiesis Ectopic Germ Cell Programmed Cell Death Hematopoietic Stem Cell Migration Megakaryocyte Development Fc Receptor Signaling Pathway Kit Signaling Pathway Erythropoietin-mediated Signaling Pathway Regulation Of Cell Population Proliferation Positive Regulation Of Tyrosine Phosphorylation Of STAT Protein Negative Regulation Of Programmed Cell Death Mast Cell Degranulation Positive Regulation Of MAP Kinase Activity Positive Regulation Of MAPK Cascade Pigmentation Positive Regulation Of Phosphatidylinositol 3-kinase Activity Tongue Development Positive Regulation Of Notch Signaling Pathway Positive Regulation Of Receptor Signaling Pathway Via JAK-STAT Response To Cadmium Ion Protein Autophosphorylation Somatic Stem Cell Division Positive Regulation Of Long-term Neuronal Synaptic Plasticity Digestive Tract Development Stem Cell Differentiation Epithelial Cell Proliferation Detection Of Mechanical Stimulus Involved In Sensory Perception Of Sound Positive Regulation Of DNA-binding Transcription Factor Activity Positive Regulation Of Protein Kinase B Signaling Cell Chemotaxis Mast Cell Differentiation Mast Cell Proliferation Cellular Response To Thyroid Hormone Stimulus Melanocyte Migration Melanocyte Adhesion Positive Regulation Of Pyloric Antrum Smooth Muscle Contraction Regulation Of Bile Acid Metabolic Process Positive Regulation Of Colon Smooth Muscle Contraction Positive Regulation Of Small Intestine Smooth Muscle Contraction Positive Regulation Of Vascular Associated Smooth Muscle Cell Differentiation
Pathways		Interleukin-6 signaling Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Spry regulation of FGF signaling Regulation of KIT signaling EGFR downregulation TGF-beta receptor signaling activates SMADs Constitutive Signaling by EGFRvIII Negative regulation of FGFR1 signaling Negative regulation of FGFR2 signaling Negative regulation of FGFR3 signaling Negative regulation of FGFR4 signaling Negative regulation of MET activity PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis InlB-mediated entry of Listeria monocytogenes into host cell InlB-mediated entry of Listeria monocytogenes into host cell Regulation of signaling by CBL Regulation of signaling by CBL Negative regulation of FLT3 FLT3 signaling by CBL mutants	PIP3 activates AKT signaling Signaling by SCF-KIT Signaling by SCF-KIT Regulation of KIT signaling Regulation of KIT signaling Constitutive Signaling by Aberrant PI3K in Cancer RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling TFAP2 (AP-2) family regulates transcription of growth factors and their receptors Dasatinib-resistant KIT mutants Imatinib-resistant KIT mutants KIT mutants bind TKIs Masitinib-resistant KIT mutants Nilotinib-resistant KIT mutants Regorafenib-resistant KIT mutants Signaling by kinase domain mutants of KIT Sunitinib-resistant KIT mutants Signaling by juxtamembrane domain KIT mutants Sorafenib-resistant KIT mutants Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants Signaling by extracellular domain mutants of KIT
Drugs			Sorafenib Imatinib Dasatinib Sunitinib Phosphonotyrosine Nilotinib XL820 OSI-930 ABT-869 Pazopanib Midostaurin Regorafenib Ponatinib Lenvatinib Ancestim Fostamatinib Erdafitinib Amuvatinib Pexidartinib Ripretinib Avapritinib
Diseases		Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)	Piebaldism Acute myeloid leukemia (AML)
GWAS		High light scatter reticulocyte count ( 32888494 27863252) High light scatter reticulocyte percentage of red cells ( 32888494 27863252) Mean corpuscular volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Platelet count ( 22139419 29403010 32888494 27863252) Plateletcrit ( 32888494 27863252) Reticulocyte count ( 32888494 27863252) Reticulocyte fraction of red cells ( 32888494 27863252)	Adult body size ( 32376654) Anorexia nervosa or obsessive-compulsive disorder ( 30087453) Apolipoprotein A1 levels ( 32203549) Bipolar disorder ( 19416921) Breastfeeding duration ( 25475840) Cadmium levels ( 26025379) HDL cholesterol levels ( 32203549) Hematocrit ( 29403010 28017375) Hemoglobin ( 29403010) Hemoglobin levels ( 28017375) High density lipoprotein cholesterol levels ( 31928498) Mean corpuscular hemoglobin ( 29403010 28453575 28017375) Mean corpuscular volume ( 29403010 28453575 20139978 28017375 19862010) Neutrophil percentage of white cells ( 32888494) Platelet count ( 29403010) Red blood cell count ( 29403010 28453575 28017375) Red blood cell traits ( 23222517) Schizophrenia ( 26198764) Serum VEGFR2 concentration ( 25411163) Systemic lupus erythematosus ( 29494758) Triglyceride levels ( 32203549 31928498)
Interacting Genes		128 interacting genes: ABL1 APPL1 ASAP1 AXL BCR BLK BLNK BTK CAPN1 CBLIF CD19 CD2AP CD38 CD40 CD5 CDKL2 CRK CRKL CSF1R CTNNB1 CUBN EGFR EIF5B EPHA2 EPHB6 EPOR EPS8 F2RL1 FGR FLOT1 FLT3 FNBP1 FRS2 FYB1 FYN GRAP2 GRB2 HCK IGF1R INPPL1 INSR ITCH ITK ITSN2 JAK2 KDR KHDRBS1 KIT KRT18 LAT LAT2 LCK LCP2 LRIG1 LTK LYN MAPK8 MET MYH9 MYO1C MZF1 NCK1 NECTIN1 NOTCH1 OSTF1 PDGFRA PDGFRB PIK3R1 PIK3R2 PLCG1 PRKCA PRKCQ PTK2B PTPN11 PTPN22 PTPN6 RET SCN5A SERPINA5 SH2B2 SH3KBP1 SHC1 SLA SLA2 SMAD7 SORBS1 SORBS2 SP7 SPRY2 SRC STAP2 STAT3 STAT5A STAT5B SYK TCN1 TCN2 TGM2 TNFRSF11A TNS4 TRAF4 TRAF6 TRIM8 TYK2 UBASH3B UBC UBE2D1 UBE2D2 UBE2D3 UBE2E1 UBE2E2 UBE2E3 UBE2G1 UBE2G2 UBE2L3 UBE2M UBE2N UBE2U UBE2W USP21 VAV1 VAV2 YES1 YWHAB YWHAG YWHAQ YWHAZ ZAP70	92 interacting genes: ABL1 ABL2 BCAR3 BLK BLNK BTK CBL CBLB CD81 CD9 CISH CLTC CRK CRKL CSF1R CSF2RA CSF2RB DOK1 EPOR FES FGR FYN GRAP GRAP2 GRB10 GRB2 GRB7 HCK HSH2D IL7R ILKAP INPP5D JAK2 JAK3 KITLG LCK LYN MATK MPDZ NCK1 NCK2 PIK3CG PIK3R1 PIK3R2 PIK3R3 PLCE1 PLCG1 PLCG2 PRKCA PRKCB PTK6 PTPN11 PTPN20 PTPN6 PTPRO PTPRU RASA1 SH2B2 SH2B3 SH2D1A SH2D1B SH2D2A SH2D3C SH3BP2 SHB SHC1 SHC2 SHC3 SHC4 SLA2 SOCS1 SOCS2 SOCS3 SOCS5 SOCS6 SPRED1 SPRED2 SRC STAP1 STAT1 STAT5A STAT5B STYX SYK TEC TNS1 TNS2 TNS3 TXK VAV3 YES1 ZAP70
Entrez ID		867	3815
HPRD ID		01320	01287
Ensembl ID		ENSG00000110395	ENSG00000157404
Uniprot IDs		P22681	A0A0U2N547 P10721
PDB IDs		1B47 1FBV 1YVH 2CBL 2JUJ 2K4D 2OO9 2Y1M 2Y1N 3BUM 3BUN 3BUO 3BUW 3BUX 3OB1 3OB2 3PLF 4A49 4A4B 4A4C 4GPL 5HKW 5HKX 5HKY 5HKZ 5HL0 5J3X 5O76 6O02 6O03	1PKG 1QZJ 1QZK 1R01 1T45 1T46 2E9W 2EC8 2IUH 2VIF 3G0E 3G0F 4HVS 4K94 4K9E 4PGZ 4U0I 6GQJ 6GQK 6GQL 6GQM 6HH1 6ITT 6ITV 6KLA 6MOB 6XV9 6XVA 6XVB
Enriched GO Terms of Interacting Partners?
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