FBN1 and ELN

Data Source:
HPRD (in vivo)

		FBN1	ELN
Description		fibrillin 1	elastin
Image			No pdb structure
GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Collagen-containing Extracellular Matrix	Extracellular Region Extracellular Matrix Collagen-containing Extracellular Matrix Elastic Fiber
	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	Extracellular Matrix Structural Constituent Protein Binding Extracellular Matrix Constituent Conferring Elasticity Extracellular Matrix Binding
	Biological Process	Skeletal System Development Metanephros Development Signal Transduction Heart Development Anatomical Structure Morphogenesis Extracellular Matrix Organization Cell Adhesion Mediated By Integrin Sequestering Of BMP In Extracellular Matrix Sequestering Of TGFbeta In Extracellular Matrix Camera-type Eye Development Post-translational Protein Modification Cellular Protein Metabolic Process Negative Regulation Of Osteoclast Differentiation Embryonic Eye Morphogenesis Post-embryonic Eye Morphogenesis Cellular Response To Transforming Growth Factor Beta Stimulus Cellular Response To Insulin-like Growth Factor Stimulus Negative Regulation Of Osteoclast Development	Outflow Tract Morphogenesis Aortic Valve Morphogenesis Skeletal Muscle Tissue Development Respiratory Gaseous Exchange By Respiratory System Blood Circulation Animal Organ Morphogenesis Extracellular Matrix Organization Regulation Of Actin Filament Polymerization Stress Fiber Assembly Regulation Of Smooth Muscle Cell Proliferation
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 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation	Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres
Drugs			Rofecoxib
Diseases		Ectopia lentis Shprintzen-Goldberg syndrome MASS phenotype Marfan syndrome, including: Marfan syndrome (MFS); Neonatal MFS; Atypically severe MFS; New variant of MFS Weill-Marchesani syndrome, including: Weill-Marchesani syndrome; Weill-Marchesani-like syndrome Geleophysic dysplasia	Congenital supravalvar aortic stenosis Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
GWAS		Breast cancer ( 17903305) Central corneal thickness ( 32528159 29760442) Height ( 31562340 32499652) Hepcidin/ferritin ratio ( 27846281) Hip circumference adjusted for BMI ( 28552196) Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy) ( 27418160) Intraocular pressure ( 29617998) Macular thickness ( 30535121) Pulse pressure ( 27841878 28739976 30578418) 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)	Diverticular disease ( 30177863) Height ( 31562340)
Interacting Genes		16 interacting genes: ATXN7 CALR DCN ELN FBLN2 FBN2 GET4 HGS HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN	22 interacting genes: ASS1 BGN CKMT2 CLU DCN ELANE FBLN1 FBLN2 FBN1 FBN2 FCN1 FKBP10 LGALS3 LOX LOXL1 LYZ MAGEH1 MFAP2 MTDH NID2 PRTN3 SPINK1
Entrez ID		2200	2006
HPRD ID		00618	00556
Ensembl ID		ENSG00000166147	ENSG00000049540
Uniprot IDs		P35555	B3KRT8 B4E3S4 E7EN65 E7ENM0 G3V0G6 G5E950 P15502 Q59H17 Q6ZUN2 Q8NBI4
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9
Enriched GO Terms of Interacting Partners?
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