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
	Molecular Function	Protein Binding Zinc Ion Binding Transferase Activity 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 DNA Repair Ubiquitin-dependent Protein Catabolic Process DNA Damage Response Pattern Specification Process Protein Ubiquitination Positive Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Positive Regulation Of Protein Ubiquitination Global Genome Nucleotide-excision Repair	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
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 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
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		Apolipoprotein A1 levels ( 32203549) 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 ( 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)
Interacting Genes		57 interacting genes: ACTN3 ANAPC11 AP2M1 AXIN1 CREB1 CREBBP CTBP1 DTX3L EDARADD ERG ESR1 KRTAP1-1 KRTAP5-9 LCE4A LRSAM1 MARCHF7 MDFI MVP NBPF19 NOTCH2NLA PAX6 PHF7 PSME3 PTPN3 SDCBP2 SMAD3 SMAD6 SMAD7 SMURF2 SUMO1 SUMO2 SUMO3 TRAF5 TRIM21 TRIM8 TSG101 TSPYL1 UBC UBE2D1 UBE2D2 UBE2D3 UBE2D4 UBE2E1 UBE2E2 UBE2E3 UBE2G2 UBE2I UBE2K UBE2L3 UBE2M UBE2N UBE2Q2 UBE2V1 UBE2V2 UBE2W UBXN7 VAPB	18 interacting genes: ATXN7 CALR DCN DYRK1A ELN FBLN2 FBN2 GET4 HGS HOXA1 HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN
Entrez ID		54778	2200
HPRD ID		09318	00618
Ensembl ID		ENSG00000157450	ENSG00000166147
Uniprot IDs		Q6ZNA4	P35555
PDB IDs		2KIZ 5LG0 5LG7 7P2K	1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9
Enriched GO Terms of Interacting Partners?		Ubiquitin Conjugating Enzyme Activity Protein Modification By Small Protein Conjugation Post-translational Protein Modification Protein Polyubiquitination Ubiquitin-protein Transferase Activity Protein Ubiquitination Protein Modification Process Protein K48-linked Ubiquitination Protein Metabolic Process Modification-dependent Protein Catabolic Process Proteolysis Involved In Protein Catabolic Process Ubiquitin Protein Ligase Binding Ubiquitin-dependent Protein Catabolic Process Cytosol Macromolecule Catabolic Process Protein Monoubiquitination Protein K11-linked Ubiquitination Macromolecule Metabolic Process Protein K63-linked Ubiquitination Proteolysis Nucleus Transferase Activity Positive Regulation Of Protein Polyubiquitination Nucleoplasm Ubiquitin Protein Ligase Activity UBC13-MMS2 Complex Regulation Of Protein Polyubiquitination Positive Regulation Of Protein Ubiquitination Enzyme Binding Negative Regulation Of BMP Signaling Pathway Dorsal/ventral Axis Specification Regulation Of Post-translational Protein Modification Protein Autoubiquitination Ubiquitin Conjugating Enzyme Complex Protein Tag Activity Regulation Of Protein Modification Process I-SMAD Binding Regulation Of Protein Metabolic Process Positive Regulation Of Post-translational Protein Modification Regulation Of Protein Ubiquitination Proteasomal Protein Catabolic Process Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Catabolic Process Protein Catabolic Process Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Negative Regulation Of Macromolecule Metabolic Process Negative Regulation Of Metabolic Process Regulation Of Signal Transduction Regulation Of Primary Metabolic Process Ubiquitin-like Protein Ligase Binding	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
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