FBN1 and LTBP1

Data Source:
HPRD (in vivo, in vitro)

		FBN1	LTBP1
Description		fibrillin 1	latent transforming growth factor beta binding protein 1
Image
GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Collagen-containing Extracellular Matrix	Microfibril Extracellular Region Endoplasmic Reticulum Lumen Extracellular Matrix Protein-containing Complex Collagen-containing Extracellular Matrix
	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	Transforming Growth Factor Beta-activated Receptor Activity Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Transforming Growth Factor Beta Binding Microfibril 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	Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Sequestering Of TGFbeta In Extracellular Matrix Post-translational Protein Modification Cellular Protein Metabolic Process Regulation Of Transforming Growth Factor Beta Activation
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	Molecules associated with elastic fibres Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
Drugs
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
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)	Carpal tunnel syndrome ( 30833571) Central corneal thickness ( 32528159 29760442) Diverticular disease ( 30177863) Height ( 28552196 20881960 25282103 25429064 19893584 23563607 31562340 20189936) Hip circumference adjusted for BMI ( 25673412) Immune reponse to smallpox (secreted IFN-alpha) ( 22610502) Immune response to smallpox vaccine (IL-6) ( 22610502) Intraocular pressure ( 29617998 29785010 29235454) Knee osteoarthritis ( 30374069) Male-pattern baldness ( 28196072) Optic disc size ( 31809533) Rosacea symptom severity ( 29771307) Waist circumference adjusted for BMI (adjusted for smoking behaviour) ( 28443625) Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) ( 28448500) Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) ( 28443625) Waist circumference adjusted for BMI in active individuals ( 28448500) Waist circumference adjusted for BMI in non-smokers ( 28443625) Waist circumference adjusted for body mass index ( 25673412 28448500)
Interacting Genes		16 interacting genes: ATXN7 CALR DCN ELN FBLN2 FBN2 GET4 HGS HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN	11 interacting genes: ATN1 CACNA1A FBN1 FBN2 FN1 HTRA1 IGFBP3 IGFBP5 ITGB5 TGFB1 TGM2
Entrez ID		2200	4052
HPRD ID		00618	01039
Ensembl ID		ENSG00000166147	ENSG00000049323
Uniprot IDs		P35555	B7ZLY3 Q14766
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9	1KSQ
Enriched GO Terms of Interacting Partners?
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