CEP250 and ITCH

		CEP250	ITCH
Description		centrosomal protein 250	itchy E3 ubiquitin protein ligase
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GO Annotations	Cellular Component	Photoreceptor Outer Segment Photoreceptor Inner Segment Cytoplasm Centrosome Centriole Microtubule Organizing Center Cytosol Cytoskeleton Cilium Spindle Pole Centrosome Protein-containing Complex Ciliary Basal Body Cell Projection Perinuclear Region Of Cytoplasm Extracellular Exosome	Nucleus Nucleoplasm Cytoplasm Mitochondrion Endosome Early Endosome Cytosol Plasma Membrane Cell Cortex Endosome Membrane Membrane Cytoplasmic Vesicle Early Endosome Membrane Protein-containing Complex Extracellular Exosome Cell Periphery
	Molecular Function	Protein Binding Protein Domain Specific Binding	Ubiquitin-protein Transferase Activity Protein Binding Transferase Activity Ligase Activity Ubiquitin-like Protein Transferase Activity Ubiquitin-ubiquitin Ligase Activity Ribonucleoprotein Complex Binding Ubiquitin-like Protein Ligase Binding CXCR Chemokine Receptor Binding Ubiquitin Protein Ligase Activity Arrestin Family Protein Binding
	Biological Process	Mitotic Cell Cycle Intracellular Protein Localization Centriole-centriole Cohesion Cell Projection Organization Regulation Of Centriole-centriole Cohesion Protein Localization To Organelle Detection Of Light Stimulus Involved In Visual Perception Cilium Assembly Protein Localization To Centrosome Positive Regulation Of Protein Localization To Centrosome Non-motile Cilium Assembly	Protein Polyubiquitination Regulation Of Cell Growth Immune System Process Positive Regulation Of T Cell Anergy Negative Regulation Of Immune System Process Positive Regulation Of Immune System Process Cytoplasmic Pattern Recognition Receptor Signaling Pathway T Cell Anergy Ubiquitin-dependent Protein Catabolic Process Protein Monoubiquitination Apoptotic Process Inflammatory Response Response To Oxidative Stress Positive Regulation Of Catabolic Process Regulation Of Gene Expression Positive Regulation Of Macromolecule Metabolic Process Protein Ubiquitination Protein Catabolic Process Receptor Internalization Negative Regulation Of Type I Interferon Production Protein K29-linked Ubiquitination CD4-positive, Alpha-beta T Cell Proliferation Nucleotide-binding Domain, Leucine Rich Repeat Containing Receptor Signaling Pathway CXCL12-activated CXCR4 Signaling Pathway Negative Regulation Of Cytoplasmic Pattern Recognition Receptor Signaling Pathway Negative Regulation Of Apoptotic Process Negative Regulation Of Canonical NF-kappaB Signal Transduction Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Innate Immune Response Positive Regulation Of Protein Catabolic Process Negative Regulation Of JNK Cascade Symbiont Entry Into Host Cell Negative Regulation Of Defense Response To Virus Negative Regulation Of Multicellular Organismal Process Defense Response To Virus Protein Autoubiquitination Regulation Of Necroptotic Process Protein K63-linked Ubiquitination Protein K48-linked Ubiquitination Regulation Of Protein Deubiquitination Protein Branched Polyubiquitination Regulation Of Hematopoietic Stem Cell Differentiation Negative Regulation Of Intracellular Signal Transduction Negative Regulation Of CD4-positive, Alpha-beta T Cell Proliferation Positive Regulation Of Receptor Catabolic Process
Pathways		Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2	Downregulation of ERBB4 signaling NOD1/2 Signaling Pathway Activated NOTCH1 Transmits Signal to the Nucleus Activated NOTCH1 Transmits Signal to the Nucleus Degradation of GLI1 by the proteasome Hedgehog 'on' state Regulation of necroptotic cell death RUNX1 regulates transcription of genes involved in differentiation of HSCs Negative regulators of DDX58/IFIH1 signaling SARS-CoV-1 activates/modulates innate immune responses Antigen processing: Ubiquitination & Proteasome degradation
Drugs
Diseases
GWAS		Amyotrophic lateral sclerosis (sporadic) ( 24529757) Brain morphology (MOSTest) ( 32665545) Height ( 18391951 25429064 34270706) Hip circumference adjusted for BMI ( 34021172) Refractive error ( 32231278) Ulcerative colitis ( 23128233) Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI (age >50) ( 26426971) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971)	Appendicular lean mass ( 33097823) Bipolar disorder ( 31043756) Colorectal cancer or advanced adenoma ( 30510241) Estimated glomerular filtration rate ( 31015462 31152163) Fish- and plant-related diet ( 32066663) Heel bone mineral density ( 28869591) Hip circumference adjusted for BMI ( 34021172) Oily fish consumption ( 32066663) Pork consumption ( 32066663) Vitiligo ( 27723757)
Interacting Genes		15 interacting genes: APP ATF7IP FAM83D FRMD5 ITCH KAT2B KCNG3 MYL9 NEK2 PDIA6 PHF20 PLEKHA5 TTI1 USP7 YWHAG	133 interacting genes: AGO2 AKT1 ARHGEF7 ARID1A ARRB2 ARRDC3 ATN1 BECN1 BIN1 BRAF CBL CBLC CDC34 CEP250 CPSF6 CPSF7 CSNK2A1 CXCR4 CYLD DAZAP1 DSCR9 DTX1 DTX3L ERBB4 ESS2 EWSR1 FYN GJA1 GLIS3 GNAI2 H1-2 HNRNPUL1 JUN JUNB KIAA1210 KPNB1 KSR1 LAPTM5 LITAF LRRK1 MAP2 MAP2K1 MAP2K4 MAP3K2 MAPK8 MLANA MLKL MYCT1 N4BP1 NDFIP1 NDFIP2 NEDD9 NFE2 NOTCH1 NRAS NUDT21 NUMB PABPC1 PACSIN1 PIP4P2 POLR2A POLR2B POLR2C POLR2E POU5F1 PRKACA PRRG4 RAF1 RBM14 REPS2 RHBDD1 RIPK1 RNF11 RORA RPAP2 RPAP3 SCNN1A SCNN1B SF1 SGK3 SH3GL1 SH3GL2 SIK1 SMAD2 SMAD3 SMARCC1 SMARCC2 SMARCE1 SMN1 SNX9 SPART SPEN STAM2 STRIP2 SUFU TAB1 TAF15 TGFB1I1 TMEM51 TP73 TRERF1 TRPC4 TRPV1 TRPV4 TTYH3 UBAP2 UBAP2L UBC UBE2C UBE2D1 UBE2D2 UBE2D3 UBE2D4 UBE2E1 UBE2E2 UBE2E3 UBE2G1 UBE2J2 UBE2K UBE2L3 UBE2L6 UBE2M UBE2O UBE2Q1 UBE2Q2 UBE2R2 URI1 UVRAG WASL WBP2 YWHAQ YY1 ZC3H14
Entrez ID		11190	83737
HPRD ID		09877	07565
Ensembl ID		ENSG00000126001	ENSG00000078747
Uniprot IDs		A0A9L9PXD2 Q9BV73	Q96J02
PDB IDs		6OQA	2DMV 2KYK 2NQ3 2P4R 2YSF 3TUG 4ROF 5C7M 5CQ2 5DWS 5DZD 5SXP
Enriched GO Terms of Interacting Partners?		Regulation Of TOR Signaling Negative Regulation Of Gene Expression Epigenetic Regulation Of Gene Expression Regulation Of Protein Catabolic Process Positive Regulation Of Glycolytic Process Regulation Of Attachment Of Spindle Microtubules To Kinetochore Histone Acetyltransferase Complex Protein-containing Complex Chromatin Organization Positive Regulation Of ATP Metabolic Process Positive Regulation Of Gene Expression, Epigenetic Amyloid-beta Complex Growth Cone Lamellipodium Regulation Of Response To Calcium Ion Regulation Of Glycolytic Process Amylin Binding Positive Regulation Of Toll Signaling Pathway Cytosol Negative Regulation Of Centriole-centriole Cohesion Regulation Of Gluconeogenesis Protein Stabilization Positive Regulation Of Catabolic Process Regulation Of Chromosome Organization Acetylcholine Receptor Activator Activity PTB Domain Binding Regulation Of ATP Metabolic Process Chromatin Remodeling Collateral Sprouting In Absence Of Injury Regulation Of Protein Import Regulation Of Carbohydrate Catabolic Process Regulation Of Purine Nucleotide Metabolic Process Endosome To Plasma Membrane Transport Vesicle Positive Regulation Of Endothelin Production Growth Cone Filopodium Regulation Of Small Molecule Metabolic Process Lipoprotein Particle Positive Regulation Of Cell Cycle Phospholipase D-activating G Protein-coupled Receptor Signaling Pathway Positive Regulation Of Protein Import Microglia Development Positive Regulation Of G Protein-coupled Receptor Internalization Regulation Of Cell Cycle Regulation Of Centriole-centriole Cohesion Negative Regulation Of TORC1 Signaling TOR Signaling Protein Kinase C Inhibitor Activity Cellular Response To Nutrient Levels TORC1 Signaling Symbiont-mediated Disruption Of Host Cell PML Body Negative Regulation Of RRNA Processing	Ubiquitin Conjugating Enzyme Activity Ubiquitin-protein Transferase Activity Protein Polyubiquitination Protein K48-linked Ubiquitination Protein Ubiquitination Post-translational Protein Modification Protein Modification By Small Protein Conjugation Modification-dependent Protein Catabolic Process Ubiquitin Protein Ligase Binding Nucleus Cytosol Ubiquitin-dependent Protein Catabolic Process Macromolecule Catabolic Process Proteolysis Involved In Protein Catabolic Process ATP Binding Transferase Activity Regulation Of Macromolecule Metabolic Process Positive Regulation Of Metabolic Process Nucleoplasm Regulation Of Gene Expression Regulation Of Macromolecule Biosynthetic Process Regulation Of Metabolic Process Protein Modification Process Positive Regulation Of Macromolecule Metabolic Process Nucleotide Binding WW Domain Binding Regulation Of Primary Metabolic Process Protein Binding Intracellular Signal Transduction Regulation Of RNA Metabolic Process Positive Regulation Of Signal Transduction Regulation Of Protein Modification Process Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Intracellular Signaling Cassette Cytoplasm Positive Regulation Of Intracellular Signal Transduction Positive Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of Biosynthetic Process Regulation Of Cell Differentiation Macromolecule Metabolic Process Positive Regulation Of RNA Metabolic Process Protein K11-linked Ubiquitination Regulation Of Protein Metabolic Process Positive Regulation Of Protein Modification Process Negative Regulation Of Macromolecule Metabolic Process Negative Regulation Of Macromolecule Biosynthetic Process Regulation Of Protein Ubiquitination Negative Regulation Of Metabolic Process
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