CAV3 and DYSF

Data Source:
HPRD (in vitro, in vivo)

		CAV3	DYSF
Description		caveolin 3	dysferlin
Image		No pdb structure
GO Annotations	Cellular Component	Golgi Membrane Endoplasmic Reticulum Plasma Membrane Integral Component Of Plasma Membrane Caveola Focal Adhesion Cell Surface Intercalated Disc Dystrophin-associated Glycoprotein Complex Z Disc T-tubule Neuromuscular Junction Vesicle Sarcolemma Intracellular Membrane-bounded Organelle Membrane Raft	Endosome Early Endosome Late Endosome Plasma Membrane Integral Component Of Membrane Endocytic Vesicle T-tubule Cytoplasmic Vesicle Membrane Cytoplasmic Vesicle Centriolar Satellite Sarcolemma Extracellular Exosome
	Molecular Function	Calcium Channel Regulator Activity Protein Binding Protein C-terminus Binding Sodium Channel Regulator Activity Potassium Channel Inhibitor Activity Alpha-tubulin Binding Ion Channel Binding Protein-containing Complex Binding Nitric-oxide Synthase Binding Molecular Adaptor Activity Connexin Binding	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding
	Biological Process	Plasma Membrane Repair Regulation Of Heart Rate Negative Regulation Of Protein Kinase Activity Triglyceride Metabolic Process Endocytosis Muscle Contraction Plasma Membrane Organization Actin Filament Organization Positive Regulation Of Cytosolic Calcium Ion Concentration Muscle Organ Development Myoblast Fusion Regulation Of Heart Contraction Protein Localization Positive Regulation Of Cell Population Proliferation Negative Regulation Of Cardiac Muscle Hypertrophy Positive Regulation Of Myotube Differentiation Regulation Of Skeletal Muscle Contraction Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Cell Differentiation Positive Regulation Of Microtubule Polymerization Cytoplasmic Microtubule Organization Membrane Raft Organization T-tubule Organization Detection Of Muscle Stretch Regulation Of Signal Transduction By Receptor Internalization Regulation Of Membrane Potential Glucose Homeostasis Cholesterol Homeostasis Negative Regulation Of MAP Kinase Activity Negative Regulation Of MAPK Cascade Negative Regulation Of Cell Size Muscle Cell Cellular Homeostasis Negative Regulation Of Nitric-oxide Synthase Activity Regulation Of Nerve Growth Factor Receptor Activity Regulation Of Cytosolic Calcium Ion Concentration Nucleus Localization Regulation Of Protein Kinase B Signaling Negative Regulation Of Calcium Ion Transport Cardiac Muscle Cell Development Regulation Of Cardiac Muscle Contraction Negative Regulation Of Sarcomere Organization Regulation Of Ventricular Cardiac Muscle Cell Membrane Repolarization Heart Trabecula Formation Regulation Of Ventricular Cardiac Muscle Cell Membrane Depolarization Regulation Of Branching Involved In Mammary Gland Duct Morphogenesis Negative Regulation Of Cell Growth Involved In Cardiac Muscle Cell Development Caveola Assembly Cellular Response To Organonitrogen Compound Protein Localization To Plasma Membrane Ventricular Cardiac Muscle Cell Action Potential Regulation Of Calcium Ion Import Regulation Of Cardiac Muscle Cell Action Potential Involved In Regulation Of Contraction Regulation Of P38MAPK Cascade Regulation Of Membrane Depolarization During Cardiac Muscle Cell Action Potential Negative Regulation Of Membrane Depolarization During Cardiac Muscle Cell Action Potential Negative Regulation Of Potassium Ion Transmembrane Transporter Activity Regulation Of Calcium Ion Transmembrane Transporter Activity Negative Regulation Of Potassium Ion Transmembrane Transport Negative Regulation Of Protein Localization To Cell Surface Positive Regulation Of Ubiquitin-dependent Protein Catabolic Process Regulation Of Sodium Ion Transmembrane Transporter Activity Positive Regulation Of Caveolin-mediated Endocytosis	Plasma Membrane Repair Monocyte Activation Involved In Immune Response Macrophage Activation Involved In Immune Response Vesicle Fusion Muscle Contraction Plasma Membrane Organization T-tubule Organization Negative Regulation Of Phagocytosis Membrane Fusion
Pathways		Smooth Muscle Contraction Smooth Muscle Contraction	Smooth Muscle Contraction Smooth Muscle Contraction
Drugs
Diseases		Caveolinopathies, including: Limb-girdle muscular dystrophy (LGMD) 1C; Rippling muscle disease (RMD); Idiopathic hyperCKemia; Distal myopathy with decreased caveolin 3; Hypertrophic cardiomyopathy (HCM) Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS) Limb-girdle muscular dystrophy (LGMD)	Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM) Dysferlinopathies, including: Miyoshi myopathy (MM); Limb-girdle muscular dystrophy (LGMD) 2B; Distal myopathy with anterior tibial onset (DMAT) Limb-girdle muscular dystrophy (LGMD)
GWAS		Caudate activity during reward ( 28927378)	Asthma ( 32296059) Extremely high intelligence ( 29520040) General cognitive ability ( 29844566) Hip circumference adjusted for BMI ( 28552196) Nonalcoholic steatohepatitis-derived hepatocellular carcinoma ( 29385134) PR interval in Tripanosoma cruzi seropositivity ( 24324551) Protein quantitative trait loci ( 18464913) Urate levels in overweight individuals ( 25811787)
Interacting Genes		19 interacting genes: ADRB2 DAG1 DYSF EGFR GNAS INSR JPH2 NOS1 PBX3 PCBP1 PDGFRA PDGFRB PFKM PTGES3 RBFA RYR1 SENP1 SLC22A11 SLC8A1	40 interacting genes: AKAP1 ANKRD1 ANXA1 ANXA2 APPL1 CAPN3 CAV3 CMYA5 COL12A1 COL6A3 DGKD DHX15 DNAJB6 EEF1A1 EEF1G FAM120A GNL3 KARS1 KIF1B MORF4L1 MYBPC1 MYBPC2 MYH3 MYOM1 MYOM2 NPHP3 OPTN OS9 PHF1 PLP1 RNF10 RNF2 SAMHD1 SGCG SLC12A6 SNAPIN TAF1 XIRP2 XRCC6 ZNF23
Entrez ID		859	8291
HPRD ID		03154	04307
Ensembl ID		ENSG00000182533	ENSG00000135636
Uniprot IDs		P56539	O75923
PDB IDs			4CAH 4CAI 4IHB 4IQH
Enriched GO Terms of Interacting Partners?
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