FBN1 and SPTBN5

		FBN1	SPTBN5
Description		fibrillin 1	spectrin beta, non-erythrocytic 5
Image			No pdb structure
GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix	Cytoplasm Cytosol Cytoskeleton Microtubule Associated Complex Plasma Membrane Spectrin Membrane Cell Junction Cortical Cytoskeleton Cortical Actin Cytoskeleton Photoreceptor Connecting Cilium Cell Projection Organelle Apical Cortex Photoreceptor Disc Membrane Plasma Membrane Bounded Cell Projection
	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	Opsin Binding Actin Binding Cytoskeletal Protein Binding Kinesin Binding Spectrin Binding Myosin Tail Binding Dynactin Binding Identical Protein Binding Dynein Intermediate Chain 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	Golgi Organization Lysosomal Transport Actin Cytoskeleton Organization Actin Filament Capping
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	NCAM signaling for neurite out-growth NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins RAF/MAP kinase cascade COPI-mediated anterograde transport
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)	Waist circumference adjusted for body mass index ( 28552196 34021172) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 34021172) Waist-to-hip ratio adjusted for BMI (additive genetic model) ( 30778226)
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: MTDH RNF10
Entrez ID		2200	51332
HPRD ID		00618	10438
Ensembl ID		ENSG00000166147	ENSG00000137877
Uniprot IDs		P35555	Q9NRC6
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9
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	Protein Kinase A Signaling Sequestering Of Extracellular Ligand From Receptor Positive Regulation Of Macromolecule Metabolic Process Positive Regulation Of Metabolic Process Gene Expression Sequestering Of BMP In Extracellular Matrix Positive Regulation Of Response To Food Sequestering Of TGFbeta In Extracellular Matrix Regulation Of Multicellular Organismal Development Extracellular Negative Regulation Of Signal Transduction Response To Peptide Hormone Positive Regulation Of Appetite Regulation Of Osteoclast Development Post-embryonic Eye Morphogenesis Cellular Response To Insulin-like Growth Factor Stimulus Negative Regulation Of Osteoclast Development Negative Regulation Of Cell Development Extracellular Matrix Constituent Conferring Elasticity Regulation Of Cell Differentiation Activation Of Protein Kinase A Activity Regulation Of Developmental Process Transcription Cis-regulatory Region Binding HMG Box Domain Binding Response To Gonadotropin-releasing Hormone CAMP Response Element Binding Ribosome-associated Ubiquitin-dependent Protein Catabolic Process Postsynapse To Nucleus Signaling Pathway Negative Regulation Of Schwann Cell Proliferation Extrinsic Component Of Postsynaptic Density Membrane Intercellular Canaliculus Microfibril Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Regulation Of Response To Food Negative Regulation Of Glial Cell Proliferation Positive Regulation Of RNA Metabolic Process Positive Regulation Of Myelination Regulation Of Appetite Positive Regulation Of Nucleobase-containing Compound Metabolic Process Embryonic Eye Morphogenesis Regulation Of Primary Metabolic Process Cell Adhesion Mediated By Integrin BHLH Transcription Factor Binding Negative Regulation Of Osteoclast Differentiation Response To Hormone NF-kappaB Binding
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