RNF111 and FBN1

		RNF111	FBN1
Description		ring finger protein 111	fibrillin 1
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GO Annotations	Cellular Component	Nucleus Nucleoplasm Cytoplasm Cytosol PML Body Protein-containing Complex	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Collagen-containing Extracellular Matrix
	Molecular Function	Protein Binding SUMO Polymer Binding SMAD Binding Metal Ion Binding Ubiquitin Protein Ligase Activity	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	Protein Polyubiquitination Ubiquitin-dependent Protein Catabolic Process Pattern Specification Process Protein Ubiquitination Positive Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Ubiquitin-dependent SMAD Protein Catabolic Process Positive Regulation Of Protein Ubiquitination Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Global Genome Nucleotide-excision Repair	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		Downregulation of SMAD2/3:SMAD4 transcriptional activity SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Formation of Incision Complex in GG-NER Antigen processing: Ubiquitination & Proteasome degradation	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		Asperger disorder ( 21182207) Atopic dermatitis ( 25865352) Cerebrospinal fluid AB1-42 levels ( 28247064) Metabolite levels ( 22916037) Social communication problems ( 24047820)	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)
Interacting Genes		44 interacting genes: ACTN3 ANAPC11 AXIN1 CREB1 CREBBP CSNK2A1 CTBP1 DTX3L EDARADD FBN1 KRTAP5-9 LCE4A LRSAM1 MARCHF7 MVP PHF7 PML SMAD3 SMAD6 SMAD7 SMURF2 SUMO1 SUMO2 SUMO3 TRAF5 TRIM21 TRIM8 TSG101 UBC UBE2D1 UBE2D2 UBE2D3 UBE2D4 UBE2E1 UBE2E2 UBE2E3 UBE2G2 UBE2I UBE2K UBE2M UBE2N UBE2Q2 UBE2V1 UBE2W	21 interacting genes: ATXN7 CALR CCPG1 DCN ELN FBLN2 FBN2 HSCB HSPG2 LTBP1 MFAP2 MFAP5 MYO5C MYOC PSMC3 RNF111 SECISBP2L SLBP SPRY2 SPTBN5 VCAN
Entrez ID		54778	2200
HPRD ID		09318	00618
Ensembl ID		ENSG00000157450	ENSG00000166147
Uniprot IDs		A0A024R5T5 Q6ZNA4	P35555
PDB IDs		2KIZ 5LG0 5LG7	1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9
Enriched GO Terms of Interacting Partners?
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