FBN1 and CCPG1

		FBN1	CCPG1
Description		fibrillin 1	cell cycle progression 1
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GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix	Membrane
	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	Protein 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	Positive Regulation Of Cell Population Proliferation Positive Regulation Of Cell Cycle Positive Regulation Of Transcription By RNA Polymerase II
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)	Metabolite levels ( 23823483)
Interacting Genes		18 interacting genes: ATXN7 CALR DCN DYRK1A ELN FBLN2 FBN2 GET4 HGS HOXA1 HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN	2 interacting genes: MAP1LC3A MAP1LC3B
Entrez ID		2200	9236
HPRD ID		00618	09895
Ensembl ID		ENSG00000166147	ENSG00000260916
Uniprot IDs		P35555	Q9ULG6
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9	7D0E
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	Cellular Response To Nitrogen Starvation Phosphatidylethanolamine Binding Mitophagy Autophagosome Maturation Organelle Membrane Autophagosome Membrane Autophagy Of Mitochondrion Autophagosome Autophagosome Assembly Autophagosome Organization Phospholipid Binding Protein-containing Complex Disassembly Macroautophagy Activation Of Protein Kinase A Activity Vacuole Organization Cellular Response To Starvation Sequestering Of BMP In Extracellular Matrix Positive Regulation Of Response To Food Sequestering Of TGFbeta In Extracellular Matrix Positive Regulation Of Appetite Endomembrane System Microtubule Binding Cellular Response To Nutrient Levels Response To Starvation Cellular Response To Oxygen-glucose Deprivation Negative Regulation Of Osteoclast Development Autophagy Ubiquitin Protein Ligase Binding Post-embryonic Eye Morphogenesis Microtubule Response To Iron(II) Ion Sequestering Of Extracellular Ligand From Receptor Regulation Of Osteoclast Development Ceramide Binding Extracellular Negative Regulation Of Signal Transduction Cellular Response To Insulin-like Growth Factor Stimulus Extracellular Matrix Constituent Conferring Elasticity Response To Oxygen-glucose Deprivation Protein Kinase A Signaling Autolysosome Microfibril Response To Nutrient Levels Regulation Of Response To Food Response To Lead Ion Cellular Response To Copper Ion Regulation Of Appetite SMAD Protein Signal Transduction P38MAPK Cascade Embryonic Eye Morphogenesis Cell Adhesion Mediated By Integrin
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