CBLIF and CBL

Data Source:
BioGRID (pull down)

		CBLIF	CBL
Description		cobalamin binding intrinsic factor	Cbl proto-oncogene
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GO Annotations	Cellular Component	Extracellular Region Extracellular Space Endosome Microvillus Apical Plasma Membrane Lysosomal Lumen	Golgi Apparatus Cytosol Plasma Membrane Focal Adhesion Cilium Flotillin Complex Growth Cone Membrane Raft Perinuclear Region Of Cytoplasm
	Molecular Function	Protein Binding Cobalamin Binding	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
	Biological Process	Cobalt Ion Transport Cobalamin Metabolic Process Cobalamin Transport	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
Pathways		Cobalamin (Cbl, vitamin B12) transport and metabolism Defective GIF causes intrinsic factor deficiency Defective AMN causes hereditary megaloblastic anemia 1 Defective CUBN causes hereditary megaloblastic anemia 1	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
Drugs
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)
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)
Interacting Genes		8 interacting genes: CBL CUBN FFAR2 SLC13A4 SLC22A23 SLC7A1 SLC7A14 TMEM237	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
Entrez ID		2694	867
HPRD ID		02024	01320
Ensembl ID		ENSG00000134812	ENSG00000110395
Uniprot IDs		P27352	P22681
PDB IDs		2CKT 2PMV 3KQ4	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
Enriched GO Terms of Interacting Partners?
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