SCN5A and CBL

Number of citations of the paper that reports this interaction (PubMedID 8621719)
0

Data Source:
HPRD (in vivo)

		SCN5A	CBL
Description		sodium voltage-gated channel alpha subunit 5	Cbl proto-oncogene
Image
GO Annotations	Cellular Component	Voltage-gated Sodium Channel Complex Nucleoplasm Nucleolus Cytoplasm Endoplasmic Reticulum Plasma Membrane Caveola Cell Surface Intercalated Disc Membrane Lateral Plasma Membrane Z Disc T-tubule Monoatomic Ion Channel Complex Sarcolemma Perinuclear Region Of Cytoplasm Anchoring Junction	Cytoplasm Golgi Apparatus Cytosol Plasma Membrane Focal Adhesion Cilium Membrane Flotillin Complex Axon Growth Cone Cell Projection Membrane Raft Perinuclear Region Of Cytoplasm
	Molecular Function	Monoatomic Ion Channel Activity Voltage-gated Sodium Channel Activity Monoatomic Cation Channel Activity Sodium Channel Activity Protein Binding Calmodulin Binding Fibroblast Growth Factor Binding Enzyme Binding Protein Kinase Binding Protein Domain Specific Binding Ankyrin Binding Ubiquitin Protein Ligase Binding Transmembrane Transporter Binding Nitric-oxide Synthase Binding Voltage-gated Sodium Channel Activity Involved In Cardiac Muscle Cell Action Potential Voltage-gated Sodium Channel Activity Involved In AV Node Cell Action Potential Voltage-gated Sodium Channel Activity Involved In Bundle Of His Cell Action Potential Voltage-gated Sodium Channel Activity Involved In Purkinje Myocyte Action Potential Voltage-gated Sodium Channel Activity Involved In SA Node Cell Action Potential Scaffold Protein Binding	Phosphotyrosine Residue Binding Ubiquitin-protein Transferase Activity Calcium Ion Binding Protein Binding Zinc Ion Binding Transferase Activity SH3 Domain Binding Protein Kinase Binding Receptor Tyrosine Kinase Binding Phosphatidylinositol 3-kinase Regulatory Subunit Binding Cadherin Binding Metal Ion Binding Ephrin Receptor Binding Ubiquitin Protein Ligase Activity Protein Tyrosine Kinase Binding
	Biological Process	Regulation Of Heart Rate Cardiac Conduction System Development Cardiac Ventricle Development Brainstem Development Monoatomic Ion Transport Sodium Ion Transport Positive Regulation Of Sodium Ion Transport Response To Denervation Involved In Regulation Of Muscle Adaptation Telencephalon Development Cerebellum Development Monoatomic Ion Transmembrane Transport Sodium Ion Transmembrane Transport Odontogenesis Of Dentin-containing Tooth Positive Regulation Of Action Potential Positive Regulation Of Epithelial Cell Proliferation Membrane Depolarization Transmembrane Transport Regulation Of Cardiac Muscle Contraction Cardiac Muscle Contraction Regulation Of Ventricular Cardiac Muscle Cell Membrane Repolarization Regulation Of Atrial Cardiac Muscle Cell Membrane Depolarization Regulation Of Atrial Cardiac Muscle Cell Membrane Repolarization Regulation Of Ventricular Cardiac Muscle Cell Membrane Depolarization Cellular Response To Calcium Ion Cardiac Muscle Cell Action Potential Involved In Contraction Regulation Of Cardiac Muscle Cell Contraction Ventricular Cardiac Muscle Cell Action Potential Membrane Depolarization During Action Potential Membrane Depolarization During Cardiac Muscle Cell Action Potential Atrial Cardiac Muscle Cell Action Potential SA Node Cell Action Potential AV Node Cell Action Potential Bundle Of His Cell Action Potential Membrane Depolarization During AV Node Cell Action Potential Membrane Depolarization During SA Node Cell Action Potential Membrane Depolarization During Purkinje Myocyte Cell Action Potential Membrane Depolarization During Bundle Of His Cell Action Potential AV Node Cell To Bundle Of His Cell Communication Regulation Of Heart Rate By Cardiac Conduction Membrane Depolarization During Atrial Cardiac Muscle Cell Action Potential Regulation Of Sodium Ion Transmembrane Transport	Protein Polyubiquitination Ubiquitin-dependent Protein Catabolic Process Protein Monoubiquitination DNA Damage Response Signal Transduction Cell Surface Receptor Signaling Pathway Male Gonad Development Response To Gamma Radiation Response To Activity Protein Ubiquitination Cytokine-mediated Signaling Pathway Regulation Of Signaling Regulation Of Rap Protein Signal Transduction Response To Testosterone 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 Symbiont Entry Into Host Cell Positive Regulation Of Receptor-mediated Endocytosis Protein Autoubiquitination Positive Regulation Of Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Ubiquitin-dependent Endocytosis Cellular Response To Hypoxia Regulation Of Intracellular Signal Transduction Cellular Response To Nerve Growth Factor Stimulus Regulation Of Platelet-derived Growth Factor Receptor-alpha Signaling Pathway
Pathways		Interaction between L1 and Ankyrins Phase 0 - rapid depolarisation	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 Signaling by CSF1 (M-CSF) in myeloid cells Negative regulation of FLT3 FLT3 signaling by CBL mutants
Drugs		Indecainide Ranolazine Phenytoin Topiramate Disopyramide Lidocaine Valproic acid Mexiletine Hexylcaine Cinchocaine Mephenytoin Lamotrigine Carbamazepine Moricizine Riluzole Prilocaine Ethotoin Oxcarbazepine Benzonatate Cocaine Quinidine Zonisamide Procainamide Tocainide Promethazine Chloroprocaine Propafenone Flecainide Encainide Fosphenytoin Quinidine barbiturate Ajmaline Aprindine Dronedarone Brivaracetam Vernakalant Tetracaine Amylocaine Propoxycaine Pramocaine Pentoxyverine Isavuconazole Dichlorobenzyl alcohol Bioallethrin Fish oil
Diseases		Atrial fibrillation Sick sinus syndrome (SSS); Sinus node dysfunction Familial idiopathic ventricular fibrillation Brugada syndrome (BRS) Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)	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		Atrial fibrillation ( 29892015 30061737) Brugada syndrome ( 35210625 32619740 23872634) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Electrocardiographic conduction measures ( 23463857 19389651) Electrocardiographic traits ( 20062063) Electrocardiographic traits (multivariate) ( 32602732) Global electrical heterogeneity phenotypes ( 29622589) P wave duration ( 24850809 28794112) PR interval ( 21347284 32439900 29127183 30046033 20062060 25035420 23139255 31217584) PR segment duration ( 24850809) QRS duration ( 31217584 31251759 27577874 25035420 21076409) QT interval ( 29213071 29874175 19305408 24952745 19305409) Resting heart rate ( 27798624) Supraventricular ectopy ( 29618737) T wave morphology restitution during exercise ( 31607149) T wave morphology restitution during exercise (MTAG) ( 31607149) T wave morphology restitution during recovery from exercise ( 31607149) T wave morphology restitution during recovery from exercise (MTAG) ( 31607149) TPE interval (resting) ( 32386560)	High light scatter reticulocyte count ( 27863252 32888494) High light scatter reticulocyte percentage of red cells ( 32888494 27863252) Mean corpuscular volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Platelet count ( 27863252 29403010 22139419 32888494 33545615) Plateletcrit ( 27863252 32888494) Reticulocyte count ( 27863252 32888494) Reticulocyte fraction of red cells ( 27863252 32888494) Triglyceride levels ( 33339817)
Interacting Genes		23 interacting genes: ANKS1A BANP CALM1 CBL CDK2 CRYAB DLG1 DLG2 DLG3 DLG4 EMC9 NEDD4 NEDD4L PATJ RGS2 RGS3 SNTA1 SNTB1 SNTB2 SNTG2 TEKT4 WWP2 ZMYND19	130 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 PLK1 PRKCA PRKCQ PTEN 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 TRAF4 TRAF6 TRIM8 TYK2 UBASH3B UBC UBE2D1 UBE2D2 UBE2D3 UBE2E1 UBE2E2 UBE2E3 UBE2G1 UBE2G2 UBE2L3 UBE2M UBE2N UBE2U UBE2W USP21 VAV1 VAV2 WWP1 YES1 YWHAB YWHAG YWHAQ YWHAZ ZAP70
Entrez ID		6331	867
HPRD ID		02543	01320
Ensembl ID		ENSG00000183873	ENSG00000110395
Uniprot IDs		E9PG18 E9PHB6 H9KVD2 K4DIA1 Q14524 Q86V90	P22681
PDB IDs		2KBI 2L53 4DCK 4DJC 4JQ0 4OVN 5DBR 6LQA 6MUD 7DTC 7L83 8VYJ 8VYK	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 6XAR 7SIY
Enriched GO Terms of Interacting Partners?		Ionotropic Glutamate Receptor Binding Regulation Of Potassium Ion Export Across Plasma Membrane Establishment Or Maintenance Of Apical/basal Cell Polarity Establishment Or Maintenance Of Epithelial Cell Apical/basal Polarity Dystrophin-associated Glycoprotein Complex Transmembrane Transporter Binding Cytoplasm Negative Regulation Of Potassium Ion Export Across Plasma Membrane Neuromuscular Junction Potassium Channel Inhibitor Activity Negative Regulation Of Transmembrane Transport Receptor Localization To Synapse Receptor Clustering Negative Regulation Of Transport Regulation Of Monoatomic Cation Transmembrane Transport Protein Localization To Synapse Regulation Of Membrane Potential Regulation Of Potassium Ion Transmembrane Transport Regulation Of Monoatomic Ion Transmembrane Transport Negative Regulation Of Cation Transmembrane Transport Regulation Of Sodium Ion Transport Regulation Of Postsynaptic Membrane Neurotransmitter Receptor Levels Establishment Or Maintenance Of Cell Polarity Plasma Membrane Negative Regulation Of Monoatomic Ion Transmembrane Transport Negative Regulation Of Potassium Ion Transmembrane Transport Structural Molecule Activity PDZ Domain Binding Protein Localization To Cell Junction Regulation Of Potassium Ion Transport Regulation Of Metal Ion Transport Negative Regulation Of Potassium Ion Transport Negative Regulation Of Monoatomic Ion Transport Kinase Binding Syntrophin Complex Postsynaptic Density Membrane Regulation Of Monoatomic Ion Transport Sarcolemma Regulation Of Transport Neuroligin Family Protein Binding Regulation Of Sodium Ion Transmembrane Transport Muscle System Process Protein Kinase Binding Sodium Channel Inhibitor Activity Protein Monoubiquitination GMP Kinase Activity Neuron Projection Synaptic Membrane GDP Metabolic Process Adherens Junction	Cell Surface Receptor Protein Tyrosine Kinase Signaling Pathway Cell Surface Receptor Signaling Pathway Enzyme-linked Receptor Protein Signaling Pathway Signal Transduction Protein Tyrosine Kinase Activity Immune Response-regulating Cell Surface Receptor Signaling Pathway Immune Response-activating Cell Surface Receptor Signaling Pathway Regulation Of Immune Response Immune System Process Immune Response-regulating Signaling Pathway Regulation Of Immune System Process Antigen Receptor-mediated Signaling Pathway Positive Regulation Of Immune System Process Peptidyl-tyrosine Phosphorylation Immune Response-activating Signaling Pathway Phosphotyrosine Residue Binding Regulation Of MAPK Cascade Regulation Of Intracellular Signal Transduction Positive Regulation Of Immune Response Positive Regulation Of Intracellular Signal Transduction Plasma Membrane Activation Of Immune Response Cell Activation Leukocyte Activation Positive Regulation Of MAPK Cascade Protein Kinase Activity Intracellular Signal Transduction Regulation Of Signal Transduction Lymphocyte Activation Non-membrane Spanning Protein Tyrosine Kinase Activity ATP Binding Fc Receptor Signaling Pathway Positive Regulation Of Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Transferase Activity Positive Regulation Of Signal Transduction Regulation Of Cell Adhesion Kinase Activity Regulation Of Signaling Regulation Of Cell Communication Protein Modification Process Positive Regulation Of Cell Adhesion Positive Regulation Of Cell Communication Positive Regulation Of Signaling Regulation Of Cell Activation Regulation Of Lymphocyte Activation Cell Migration Protein Phosphorylation Phosphorylation Nucleotide Binding Transmembrane Receptor Protein Tyrosine Kinase Activity
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