FBN1 and MYO5C

		FBN1	MYO5C
Description		fibrillin 1	myosin VC
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GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix	Cytoplasm Actin Cytoskeleton Membrane Myosin Complex Extracellular Exosome Schaffer Collateral - CA1 Synapse
	Molecular Function	Integrin Binding Hormone Activity Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Heparin Binding Extracellular Matrix Constituent Conferring Elasticity Identical Protein Binding Protein-containing Complex Binding	Microfilament Motor Activity Nucleotide Binding Cytoskeletal Motor Activity Actin Binding Calmodulin Binding ATP Binding Actin Filament Binding
	Biological Process	Skeletal System Development Metanephros Development Kidney Development Glucose Metabolic Process Signal Transduction Heart Development Gene Expression Protein Kinase A Signaling Lung Development Positive Regulation Of Appetite Cell Adhesion Mediated By Integrin Activation Of Protein Kinase A Activity Sequestering Of BMP In Extracellular Matrix Sequestering Of TGFbeta In Extracellular Matrix Glucose Homeostasis Camera-type Eye Development Negative Regulation Of Osteoclast Differentiation Embryonic Eye Morphogenesis Post-embryonic Eye Morphogenesis Lung Alveolus Development Cellular Response To Transforming Growth Factor Beta Stimulus Cellular Response To Insulin-like Growth Factor Stimulus Negative Regulation Of Osteoclast Development	Endocytosis Actin Filament Organization Vesicle Transport Along Actin Filament
Pathways		Degradation of the extracellular matrix Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres Integrin cell surface interactions TGF-beta receptor signaling activates SMADs Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
Drugs
Diseases		Geleophysic dysplasia Weill-Marchesani syndrome, including: Weill-Marchesani syndrome; Weill-Marchesani-like syndrome Shprintzen-Goldberg syndrome Ectopia lentis MASS phenotype Marfan syndrome, including: Marfan syndrome (MFS); Neonatal MFS; Atypically severe MFS; New variant of MFS
GWAS		Breast cancer ( 17903305) Central corneal thickness ( 32528159 29760442) Height ( 32499652 31562340) Hepcidin/ferritin ratio ( 27846281) Hip circumference adjusted for BMI ( 34021172 28552196) Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy) ( 27418160) Intraocular pressure ( 29617998) Macular thickness ( 30535121) Pulse pressure ( 28739976 30578418 27841878) Pulse pressure x alcohol consumption interaction (2df test) ( 29912962) Refractive error ( 32231278) Spherical equivalent (joint analysis main effects and education interaction) ( 27020472) Spherical equivalent or myopia (age of diagnosis) ( 29808027) Spontaneous coronary artery dissection ( 32374345) Systolic blood pressure ( 27841878 30578418) Systolic blood pressure x alcohol consumption interaction (2df test) ( 29912962) Thoracic aortic aneurysms and dissections ( 21909107) Waist circumference adjusted for body mass index ( 34021172)	Glucose homeostasis traits ( 25524916) Hip circumference adjusted for BMI ( 28552196) Systemic lupus erythematosus ( 32771030) Type 2 diabetes ( 32499647)
Interacting Genes		18 interacting genes: ATXN7 CALR DCN DYRK1A ELN FBLN2 FBN2 GET4 HGS HOXA1 HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN	4 interacting genes: CRYAA IKBKG POT1 RAB8A
Entrez ID		2200	55930
HPRD ID		00618	11380
Ensembl ID		ENSG00000166147	ENSG00000128833
Uniprot IDs		P35555	Q9NQX4
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9	4L8T 4ZG4 5HMP
Enriched GO Terms of Interacting Partners?		Microfibril Extracellular Matrix Extracellular Matrix Structural Constituent Extracellular Matrix Constituent Conferring Elasticity Extracellular Matrix Structural Constituent Conferring Compression Resistance Negative Regulation Of Supramolecular Fiber Organization Sequestering Of TGFbeta In Extracellular Matrix Embryonic Eye Morphogenesis Regulation Of Cellular Response To Growth Factor Stimulus Extracellular Matrix Binding Protein-folding Chaperone Binding Extracellular Region Regulation Of Supramolecular Fiber Organization Negative Regulation Of Vasculature Development Negative Regulation Of Angiogenesis Positive Regulation Of Mitochondrial Depolarization Negative Regulation Of Cytoskeleton Organization Sequestering Of Extracellular Ligand From Receptor Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Eye Morphogenesis Animal Organ Morphogenesis Extracellular Negative Regulation Of Signal Transduction Post-translational Protein Targeting To Endoplasmic Reticulum Membrane Sensory Organ Morphogenesis Positive Regulation Of Membrane Depolarization Calcium Ion Binding Negative Regulation Of Vascular Endothelial Growth Factor Signaling Pathway Maintenance Of Location Regulation Of Trophoblast Cell Migration Negative Regulation Of Cellular Response To Vascular Endothelial Growth Factor Stimulus Lysosomal Lumen Embryonic Morphogenesis Golgi Lumen Regulation Of Mitochondrial Depolarization Glycosaminoglycan Binding Negative Regulation Of Cellular Component Organization Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Negative Regulation Of Signal Transduction Positive Regulation Of Cell-substrate Adhesion Negative Regulation Of Cellular Response To Growth Factor Stimulus Embryonic Organ Morphogenesis Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Fibronectin Binding Protein Targeting To ER Regulation Of Cytoskeleton Organization Establishment Of Protein Localization To Endoplasmic Reticulum Regulation Of Vascular Endothelial Growth Factor Signaling Pathway Negative Regulation Of Cell Communication Negative Regulation Of Signaling Regulation Of Protein Metabolic Process	Embryonic Eye Morphogenesis Eye Morphogenesis Sensory Organ Morphogenesis Camera-type Eye Development Positive Regulation Of DNA Strand Elongation Positive Regulation Of Telomeric D-loop Disassembly G-rich Single-stranded DNA Binding Embryonic Organ Morphogenesis Eye Development Sensory Organ Development Cellular Response To Peptide Hormone Stimulus Sequestering Of BMP In Extracellular Matrix Positive Regulation Of Response To Food Sequestering Of TGFbeta In Extracellular Matrix Positive Regulation Of Appetite Activation Of Protein Kinase A Activity Golgi Vesicle Fusion To Target Membrane Linear Polyubiquitin Binding Positive Regulation Of Telomeric Loop Disassembly 8-hydroxy-2'-deoxyguanosine DNA Binding Telomeric G-quadruplex DNA Binding Telomeric D-loop Binding Telomere Assembly Negative Regulation Of Osteoclast Development Single-stranded Telomeric DNA Binding Cellular Component Assembly Shelterin Complex Lens Fiber Cell Morphogenesis Post-embryonic Eye Morphogenesis IkappaB Kinase Complex Telomerase Inhibitor Activity Establishment Of Protein Localization To Telomere Tubulin Complex Assembly Sequestering Of Extracellular Ligand From Receptor Extracellular Negative Regulation Of Signal Transduction Response To Peptide Hormone Regulation Of Osteoclast Development Cellular Response To Insulin-like Growth Factor Stimulus Extracellular Matrix Constituent Conferring Elasticity Establishment Of Protein Localization To Postsynaptic Membrane Neurotransmitter Receptor Transport To Postsynaptic Membrane Neurotransmitter Receptor Transport To Plasma Membrane Neurotransmitter Receptor Transport, Endosome To Postsynaptic Membrane Neurotransmitter Receptor Transport, Endosome To Plasma Membrane Transferrin Receptor Binding Nuclear Telomere Cap Complex Telomeric Loop Disassembly Telomeric D-loop Disassembly DEAD/H-box RNA Helicase Binding G-rich Strand Telomeric DNA Binding
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