FBN1 and SPTBN5

		FBN1	SPTBN5
Description		fibrillin 1	spectrin beta, non-erythrocytic 5
Image			No pdb structure
GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Collagen-containing Extracellular Matrix	Cytoplasm Cytosol Spectrin Membrane Photoreceptor Connecting Cilium Photoreceptor Disc Membrane
	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	Actin Binding Kinesin Binding Spectrin Binding Myosin Tail Binding Dynactin Binding Identical Protein Binding Protein Self-association Dynein Intermediate Chain 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	MAPK Cascade ER To Golgi Vesicle-mediated Transport Golgi Organization Lysosomal Transport Axon Guidance Actin Cytoskeleton Organization Actin Filament Capping
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	NCAM signaling for neurite out-growth NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins RAF/MAP kinase cascade COPI-mediated anterograde transport
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 ( 29760442) Height ( 31562340) 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) Spherical equivalent (joint analysis main effects and education interaction) ( 27020472) Spherical equivalent or myopia (age of diagnosis) ( 29808027) 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 ( 28552196) Waist-to-hip ratio adjusted for BMI (additive genetic model) ( 30778226)
Interacting Genes		21 interacting genes: ATXN7 CALR CCPG1 DCN ELN FBLN2 FBN2 HSCB HSPG2 LTBP1 MFAP2 MFAP5 MYO5C MYOC PSMC3 RNF111 SECISBP2L SLBP SPRY2 SPTBN5 VCAN	3 interacting genes: FBN1 MTDH TCF12
Entrez ID		2200	51332
HPRD ID		00618	10438
Ensembl ID		ENSG00000166147	ENSG00000137877
Uniprot IDs		P35555	Q9NRC6
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9
Enriched GO Terms of Interacting Partners?
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