SPTBN5 and FBN1

Data Source:
BioGRID (biochemical)

		SPTBN5	FBN1
Description		spectrin beta, non-erythrocytic 5	fibrillin 1
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol Microtubule Associated Complex Spectrin Membrane Photoreceptor Connecting Cilium Apical Cortex Photoreceptor Disc Membrane	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Collagen-containing Extracellular Matrix
	Molecular Function	Opsin Binding Actin Binding Protein C-terminus Binding Kinesin Binding Spectrin Binding Myosin Tail Binding Dynactin Binding Identical Protein Binding Protein Self-association Dynein Intermediate Chain Binding Actin Filament Binding	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
	Biological Process	MAPK Cascade Endoplasmic Reticulum To Golgi Vesicle-mediated Transport Golgi Organization Lysosomal Transport Axon Guidance Actin Cytoskeleton Organization Actin Filament Capping	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
Pathways		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	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
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		Waist circumference adjusted for body mass index ( 28552196) Waist-to-hip ratio adjusted for BMI (additive genetic model) ( 30778226)	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)
Interacting Genes		1 interacting genes: MTDH	16 interacting genes: ATXN7 CALR DCN ELN FBLN2 FBN2 GET4 HGS HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN
Entrez ID		51332	2200
HPRD ID		10438	00618
Ensembl ID		ENSG00000137877	ENSG00000166147
Uniprot IDs		Q9NRC6	P35555
PDB IDs			1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9
Enriched GO Terms of Interacting Partners?
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