FBN1 and LTBP1

Number of citations: 0 (PubMedID 12429738)
Data Source: HPRD (in vitro, in vivo)

		FBN1	LTBP1
Name		fibrillin 1	latent transforming growth factor beta binding protein 1
Structure
GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix	Microfibril Extracellular Region Endoplasmic Reticulum Lumen Extracellular Matrix Protein-containing Complex
	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 Receptor Activity Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Growth Factor Binding Transforming Growth Factor Beta Binding Microfibril Binding Molecular Adaptor Activity Receptor Ligand Inhibitor Activity
	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	Cell Surface Receptor Protein Serine/threonine Kinase Signaling Pathway Sequestering Of TGFbeta In Extracellular Matrix Establishment Of Protein Localization To Extracellular Region
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	Molecules associated with elastic fibres 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
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	None
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 )	Appendicular lean mass ( 33097823 ) Arthritis (juvenile idiopathic) ( 34101054 ) Carpal tunnel syndrome ( 30833571 ) Central corneal thickness ( 32528159 29760442 ) Diverticular disease ( 30177863 ) Height ( 28552196 31562340 19893584 20189936 20881960 23563607 25282103 25429064 ) Hip circumference adjusted for BMI ( 34021172 25673412 ) Immune reponse to smallpox (secreted IFN-alpha) ( 22610502 ) Immune response to smallpox vaccine (IL-6) ( 22610502 ) Intraocular pressure ( 29785010 29617998 29235454 ) Knee osteoarthritis ( 30374069 ) L1-L4 bone mineral density x serum urate levels interaction ( 34046847 ) Male-pattern baldness ( 28196072 ) Optic disc size ( 31809533 ) Rosacea symptom severity ( 29771307 ) Total cholesterol levels ( 33339817 ) 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 34021172 )
Novel Interactors		8 novel interactors: CCPG1 HSCB MYO5C PSMC3 RNF111 SECISBP2L SLBP SPTBN5	3 novel interactors: CAD FOXN2 ZFP36L2
Interacting Genes		18 interacting genes: ATXN7 CALR DCN DYRK1A ELN FBLN2 FBN2 GET4 HGS HOXA1 HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN	13 interacting genes: ATN1 CACNA1A FBN1 FBN2 FN1 HOXA1 HTRA1 IGFBP3 IGFBP5 ITGB5 NOTCH3 TGFB1 TGM2
Entrez ID		2200	4052
HPRD ID		00618	01039
Ensembl ID		ENSG00000166147	ENSG00000049323
Uniprot IDs		P35555	B7ZLY3 E7EV71 Q14766
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9	1KSQ
GO Terms Enriched among Interactors		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	Developmental Process Regulation Of Cell Differentiation Extracellular Matrix Sequestering Of TGFbeta In Extracellular Matrix Insulin-like Growth Factor Binding Protein Complex Anatomical Structure Formation Involved In Morphogenesis Insulin-like Growth Factor Ternary Complex Regulation Of Smooth Muscle Cell Proliferation Growth Factor Binding Lung Alveolus Development Animal Organ Development Insulin-like Growth Factor II Binding Cellular Response To Transforming Growth Factor Beta Stimulus Sequestering Of Extracellular Ligand From Receptor Carbohydrate Homeostasis Glucose Homeostasis Extracellular Region Response To Transforming Growth Factor Beta Extracellular Negative Regulation Of Signal Transduction Cellular Response To Insulin-like Growth Factor Stimulus Extracellular Matrix Constituent Conferring Elasticity Insulin-like Growth Factor Binding Female Pregnancy Positive Regulation Of Insulin-like Growth Factor Receptor Signaling Pathway Negative Regulation Of Muscle Tissue Development Microfibril Insulin-like Growth Factor I Binding Positive Regulation Of Smooth Muscle Cell Proliferation Cell Differentiation Heart Development Regulation Of Developmental Process Cellular Response To Growth Factor Stimulus Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Type B Pancreatic Cell Proliferation Endoplasmic Reticulum Lumen Response To Peptide Hormone Extracellular Matrix Structural Constituent Response To Growth Factor Anatomical Structure Morphogenesis Response To Hormone Extracellular Space Tube Formation Regulation Of Insulin-like Growth Factor Receptor Signaling Pathway Response To Glucocorticoid Embryonic Eye Morphogenesis Negative Regulation Of Cell Differentiation Cell Adhesion Mediated By Integrin Integrin Binding Fibronectin Binding