FBN1 and MFAP5

Number of citations: 0 (PubMedID 12122015)
Data Source: HPRD (in vivo)

		FBN1	MFAP5
Name		fibrillin 1	microfibril associated protein 5
Structure			No pdb structure
GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix	Microfibril Extracellular Region 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	Extracellular Matrix Structural Constituent
	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	Embryonic Eye Morphogenesis Definitive Hemopoiesis Supramolecular Fiber Organization
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	Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres
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 )	No GWAS studies recorded
Novel Interactors		8 novel interactors: CCPG1 HSCB MYO5C PSMC3 RNF111 SECISBP2L SLBP SPTBN5	None recorded
Interacting Genes		18 interacting genes: ATXN7 CALR DCN DYRK1A ELN FBLN2 FBN2 GET4 HGS HOXA1 HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN	4 interacting genes: FBLN1 FBN1 FBN2 MEGF6
Entrez ID		2200	8076
HPRD ID		00618	03063
Ensembl ID		ENSG00000166147	ENSG00000197614
Uniprot IDs		P35555	B3KW70 F5GYX4 F5H413 Q13361
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9	Not available
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	Sequestering Of TGFbeta In Extracellular Matrix Calcium Ion Binding Extracellular Matrix Structural Constituent Sequestering Of Extracellular Ligand From Receptor Extracellular Negative Regulation Of Signal Transduction Extracellular Matrix Constituent Conferring Elasticity Microfibril Embryonic Eye Morphogenesis Extracellular Matrix Eye Morphogenesis Maintenance Of Protein Location Sensory Organ Morphogenesis Maintenance Of Location Camera-type Eye Development Basement Membrane Extracellular Region Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Hormone Activity Embryonic Organ Morphogenesis Eye Development Glucose Metabolic Process Integrin Binding Negative Regulation Of Transformation Of Host Cell By Virus Activation Of Protein Kinase A Activity Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Hexose Metabolic Process Negative Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Sensory Organ Development Regulation Of Transformation Of Host Cell By Virus Positive Regulation Of Substrate-dependent Cell Migration, Cell Attachment To Substrate Monosaccharide Metabolic Process Carbohydrate Homeostasis Glucose Homeostasis Sequestering Of BMP In Extracellular Matrix Positive Regulation Of Response To Food Positive Regulation Of Appetite Elastic Fiber Negative Regulation Of Osteoclast Development Fibrinogen Binding Post-embryonic Eye Morphogenesis Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Bone Trabecula Formation Negative Regulation Of Signal Transduction Peptidase Activator Activity Blood Coagulation, Fibrin Clot Formation Regulation Of Osteoclast Development Regulation Of Cellular Response To Growth Factor Stimulus Protein-containing Complex Binding Negative Regulation Of Cell Communication Negative Regulation Of Signaling