FBN1 and SLBP

		FBN1	SLBP
Description		fibrillin 1	stem-loop histone mRNA binding protein
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GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix	Nucleus Nucleoplasm Nucleolus Cytoplasm Cytosol Histone MRNA Stem-loop Binding Complex Histone Pre-mRNA 3'end Processing Complex Ribonucleoprotein 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	RNA Binding MRNA Binding Protein Binding Identical Protein Binding Histone Pre-mRNA Stem-loop Binding Histone Pre-mRNA DCP 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	Cap-dependent Translational Initiation MRNA Processing MRNA 3'-end Processing By Stem-loop Binding And Cleavage MRNA Transport
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	Transport of the SLBP Dependant Mature mRNA RNA Polymerase II Transcription Termination SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
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)	Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Hip circumference adjusted for BMI ( 25673412 34021172) Hip index ( 34021172) Hip minimal joint space width ( 27701424) Liver enzyme levels (gamma-glutamyl transferase) ( 33972514) Mean reticulocyte volume ( 32888494) Metabolite levels ( 23823483) Subcortical volume (MOSTest) ( 32665545) Urinary bladder cancer ( 20348956)
Interacting Genes		18 interacting genes: ATXN7 CALR DCN DYRK1A ELN FBLN2 FBN2 GET4 HGS HOXA1 HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN	12 interacting genes: CDK1 CDK2 CDK4 CDK6 CEBPA CSNK2A1 DCAF11 ERI1 LSM10 PTGER4 USP8 ZNF473
Entrez ID		2200	7884
HPRD ID		00618	03884
Ensembl ID		ENSG00000166147	ENSG00000163950
Uniprot IDs		P35555	B3KSC5 B3KST9 B4DUW7 E7EUV9 Q14493 Q53XR2
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9	2KJM 4L8R 4QOZ
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	Cyclin Binding Cyclin-dependent Protein Serine/threonine Kinase Activity Cyclin-dependent Protein Kinase Holoenzyme Complex Cell Cycle G1/S Phase Transition G1/S Transition Of Mitotic Cell Cycle Regulation Of Cell Cycle Phase Transition Histone MRNA Metabolic Process Regulation Of G2/M Transition Of Mitotic Cell Cycle Cyclin-dependent Protein Kinase Activity Regulation Of Cell Cycle G2/M Phase Transition Mitotic Cell Cycle Phase Transition Regulation Of Mitotic Cell Cycle Phase Transition Protein Serine Kinase Activity Negative Regulation Of Cell Cycle Cell Cycle Phase Transition Regulation Of Cell Cycle Histone Kinase Activity MRNA 3'-end Processing By Stem-loop Binding And Cleavage Protein Serine/threonine Kinase Activity Regulation Of Cell Cycle Process Cajal Body Response To Ketone Cellular Response To Oxygen-containing Compound Negative Regulation Of Macromolecule Metabolic Process Regulation Of Mitotic Cell Cycle Protein Kinase Activity RNA 3'-end Processing Regulation Of Macromolecule Metabolic Process Nucleic Acid Metabolic Process Positive Regulation Of Mitotic Cell Cycle Phase Transition Negative Regulation Of Metabolic Process DNA Damage Checkpoint Signaling Kinase Activity Negative Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of Cell Cycle Phase Transition Negative Regulation Of Hemopoiesis Macromolecule Metabolic Process Negative Regulation Of Biosynthetic Process Regulation Of Metabolic Process Positive Regulation Of Mitotic Cell Cycle Nucleoplasm Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Positive Regulation Of Macromolecule Metabolic Process Regulation Of Protein Catabolic Process Protein Localization To Site Of Double-strand Break Intracellular Signal Transduction Regulation Of Transcription By RNA Polymerase II Signal Transduction In Response To DNA Damage Positive Regulation Of G2/M Transition Of Mitotic Cell Cycle DNA Damage Response
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