FBN1 and PSMC3

		FBN1	PSMC3
Description		fibrillin 1	proteasome 26S subunit, ATPase 3
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GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix	Proteasome Complex P-body Extracellular Region Nucleus Nucleoplasm Cytoplasm Cytosol Proteasome Regulatory Particle, Base Subcomplex Membrane Proteasome Accessory Complex Secretory Granule Lumen Ficolin-1-rich Granule Lumen
	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	Nucleotide Binding Protein Binding ATP Binding ATP Hydrolysis Activity Proteasome-activating Activity Identical Protein 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	Blastocyst Development Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Host-mediated Perturbation Of Viral Transcription Positive Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Proteasomal Protein Catabolic Process
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	Activation of NF-kappaB in B cells Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha ER-Phagosome pathway Cross-presentation of soluble exogenous antigens (endosomes) Autodegradation of Cdh1 by Cdh1:APC/C SCF-beta-TrCP mediated degradation of Emi1 APC/C:Cdc20 mediated degradation of Securin APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Cdc20:Phospho-APC/C mediated degradation of Cyclin A Vpu mediated degradation of CD4 Vif-mediated degradation of APOBEC3G SCF(Skp2)-mediated degradation of p27/p21 Degradation of beta-catenin by the destruction complex Downstream TCR signaling Regulation of activated PAK-2p34 by proteasome mediated degradation Separation of Sister Chromatids FCERI mediated NF-kB activation Autodegradation of the E3 ubiquitin ligase COP1 Regulation of ornithine decarboxylase (ODC) ABC-family proteins mediated transport AUF1 (hnRNP D0) binds and destabilizes mRNA Asymmetric localization of PCP proteins Degradation of AXIN Degradation of DVL Hedgehog ligand biogenesis Hh mutants are degraded by ERAD Dectin-1 mediated noncanonical NF-kB signaling CLEC7A (Dectin-1) signaling Degradation of GLI1 by the proteasome Degradation of GLI2 by the proteasome GLI3 is processed to GLI3R by the proteasome Hedgehog 'on' state Regulation of RAS by GAPs TNFR2 non-canonical NF-kB pathway NIK-->noncanonical NF-kB signaling Defective CFTR causes cystic fibrosis MAPK6/MAPK4 signaling UCH proteinases Ub-specific processing proteases Neutrophil degranulation Assembly of the pre-replicative complex Orc1 removal from chromatin CDK-mediated phosphorylation and removal of Cdc6 G2/M Checkpoints Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A Ubiquitin-dependent degradation of Cyclin D The role of GTSE1 in G2/M progression after G2 checkpoint FBXL7 down-regulates AURKA during mitotic entry and in early mitosis RUNX1 regulates transcription of genes involved in differentiation of HSCs Regulation of RUNX2 expression and activity Regulation of RUNX2 expression and activity Regulation of RUNX3 expression and activity Regulation of PTEN stability and activity Neddylation Regulation of expression of SLITs and ROBOs Interleukin-1 signaling Negative regulation of NOTCH4 signaling KEAP1-NFE2L2 pathway GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2 Degradation of CDH1 Somitogenesis Antigen processing: Ubiquitination & Proteasome degradation Proteasome assembly Proteasome assembly GSK3B-mediated proteasomal degradation of PD-L1(CD274) SPOP-mediated proteasomal degradation of PD-L1(CD274) AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274) Degradation of CRY and PER proteins Degradation of CRY and PER proteins Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
Drugs			Phenethyl Isothiocyanate
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)	Alcohol use disorder (total score) ( 30336701) Alzheimer's disease or fasting glucose levels (pleiotropy) ( 30805717) Body fat distribution (arm fat ratio) ( 30664634) Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Brain morphology (MOSTest) ( 32665545) Diastolic blood pressure ( 27618452 28739976) Fruit consumption ( 32066663) Global electrical heterogeneity phenotypes ( 29622589) Height ( 23563607 31562340) Hypertension ( 31879980) Insomnia ( 32332799) Insomnia symptoms (never/rarely vs. usually) ( 30804566) Intraocular pressure ( 29617998 29235454) Lacunar stroke ( 33773637) Loneliness ( 29970889) Loneliness (MTAG) ( 29970889) Medication use (thyroid preparations) ( 31015401) Neuroticism ( 29255261) Refractive error ( 32231278) Serum albumin levels ( 23022100) Sleep duration (short sleep) ( 30846698) Systolic blood pressure ( 28739976 27618452) White blood cell count ( 29403010)
Interacting Genes		26 interacting genes: ATXN7 CALR CCPG1 DCN DYRK1A ELN FBLN2 FBN2 GET4 HGS HOXA1 HSCB HSPG2 LTBP1 MFAP2 MFAP5 MYO5C MYOC PSMC3 RNF111 SECISBP2L SGTB SLBP SPRY2 SPTBN5 VCAN	35 interacting genes: AGO2 AMOTL2 ATXN1 BDNF CAPN3 CDKN2A CEBPA CKMT1A CKMT1B DPY30 EPM2A ERBB2 F2RL1 FBN1 FBXO28 FXR1 GADD45A INSIG1 INSIG2 KDM1A MYC NDRG1 NDUFAB1 OGT PSMC3IP PSMC4 PSMC5 STX11 SUMO2 TRAF4 TRAF6 TXNL1 TXNRD2 UBE2I VHL
Entrez ID		2200	5702
HPRD ID		00618	01733
Ensembl ID		ENSG00000166147	ENSG00000165916
Uniprot IDs		P35555	A0A140VK42 P17980
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9	5GJQ 5GJR 5L4G 5LN3 5M32 5T0C 5T0G 5T0H 5T0I 5T0J 5VFP 5VFQ 5VFR 5VFS 5VFT 5VFU 5VGZ 5VHF 5VHH 5VHI 5VHJ 5VHM 5VHN 5VHO 5VHP 5VHQ 5VHR 5VHS 6MSB 6MSD 6MSE 6MSG 6MSH 6MSJ 6MSK 6WJD 6WJN 7QXN 7QXP 7QXU 7QXW 7QXX 7QY7 7QYA 7QYB 7W37 7W38 7W39 7W3A 7W3B 7W3C 7W3F 7W3G 7W3H 7W3I 7W3J 7W3K 7W3M 8CVT 8JRI 8JRT 8JTI 8K0G 8USB 8USC 9E8G 9E8H 9E8I 9E8J 9E8K 9E8L 9E8N 9E8O 9E8Q
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	Positive Regulation Of Protein Metabolic Process Positive Regulation Of Metabolic Process Negative Regulation Of Biosynthetic Process Regulation Of Protein Metabolic Process Negative Regulation Of RNA Metabolic Process Positive Regulation Of Biosynthetic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Positive Regulation Of RNA Metabolic Process Regulation Of Primary Metabolic Process Positive Regulation Of Macromolecule Metabolic Process Negative Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of RNA Biosynthetic Process Negative Regulation Of Metabolic Process Positive Regulation Of DNA-templated Transcription Regulation Of Protein Modification Process Positive Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Intracellular Signal Transduction Protein Metabolic Process Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Regulation Of Proteolysis Macromolecule Metabolic Process Regulation Of Signal Transduction Regulation Of Multicellular Organismal Development Regulation Of Metabolic Process Negative Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Macromolecule Biosynthetic Process Negative Regulation Of Macromolecule Metabolic Process Regulation Of Programmed Cell Death Positive Regulation Of Proteolysis Regulation Of Proteasomal Protein Catabolic Process Regulation Of Cell Development Negative Regulation Of Hemopoiesis Regulation Of Cell Differentiation Positive Regulation Of Developmental Process Regulation Of Developmental Process Regulation Of RNA Metabolic Process Regulation Of Protein Kinase Activity Regulation Of Cell Communication Regulation Of Protein Localization Regulation Of Signaling Regulation Of DNA-templated Transcription Regulation Of Post-translational Protein Modification Regulation Of Macromolecule Metabolic Process SUMO Transferase Activity Regulation Of RNA Biosynthetic Process Middle Ear Morphogenesis Regulation Of Kinase Activity SREBP-SCAP-Insig Complex Negative Regulation Of Signal Transduction
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