ITCH and CEP250

		ITCH	CEP250
Description		itchy E3 ubiquitin protein ligase	centrosomal protein 250
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GO Annotations	Cellular Component	Nucleoplasm Cytoplasm Early Endosome Cytosol Plasma Membrane Cell Cortex Membrane Cytoplasmic Vesicle Early Endosome Membrane Protein-containing Complex Intracellular Membrane-bounded Organelle Extracellular Exosome	Photoreceptor Outer Segment Photoreceptor Inner Segment Centrosome Centriole Microtubule Organizing Center Cytosol Protein-containing Complex Ciliary Basal Body Perinuclear Region Of Cytoplasm Extracellular Exosome
	Molecular Function	Ubiquitin-protein Transferase Activity Protein Binding Ligase Activity Ubiquitin-like Protein Transferase Activity Ribonucleoprotein Complex Binding Ubiquitin-like Protein Ligase Binding CXCR Chemokine Receptor Binding Ubiquitin Protein Ligase Activity Arrestin Family Protein Binding	Protein Binding Protein C-terminus Binding Protein Kinase Binding Protein Domain Specific Binding
	Biological Process	Protein Polyubiquitination Regulation Of Cell Growth Positive Regulation Of T Cell Anergy Ubiquitin-dependent Protein Catabolic Process Apoptotic Process Inflammatory Response Protein Ubiquitination Negative Regulation Of NF-kappaB Transcription Factor Activity Negative Regulation Of Type I Interferon Production Protein K29-linked Ubiquitination Negative Regulation Of Apoptotic Process Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Innate Immune Response Positive Regulation Of Protein Catabolic Process Negative Regulation Of JNK Cascade Negative Regulation Of Alpha-beta T Cell Proliferation Viral Entry Into Host Cell Negative Regulation Of Defense Response To Virus Defense Response To Virus Protein Autoubiquitination Nucleotide-binding Oligomerization Domain Containing Signaling Pathway Protein K63-linked Ubiquitination Protein K48-linked Ubiquitination Regulation Of Protein Deubiquitination Regulation Of Hematopoietic Stem Cell Differentiation Positive Regulation Of Receptor Catabolic Process	Mitotic Cell Cycle Protein Localization Centriole-centriole Cohesion Regulation Of Centriole-centriole Cohesion Protein Localization To Organelle Detection Of Light Stimulus Involved In Visual Perception Cilium Assembly Positive Regulation Of Protein Localization To Centrosome Non-motile Cilium Assembly
Pathways		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 RUNX1 regulates transcription of genes involved in differentiation of HSCs Negative regulators of DDX58/IFIH1 signaling Antigen processing: Ubiquitination & Proteasome degradation	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
Drugs
Diseases
GWAS		Bipolar disorder ( 31043756) Colorectal cancer or advanced adenoma ( 30510241) Estimated glomerular filtration rate ( 31152163 31015462) 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)	Amyotrophic lateral sclerosis (sporadic) ( 24529757) Brain morphology (MOSTest) ( 32665545) Height ( 25429064 18391951) 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)
Interacting Genes		108 interacting genes: AGO2 ARHGEF7 ARID1A ARRB2 ARRDC3 ATN1 BECN1 BIN1 BRAF CBL CBLC CDC34 CEP250 CPSF6 CPSF7 CSNK2A1 CXCR4 CYLD DAZAP1 DTX1 DTX3L ERBB4 EWSR1 FYN GLIS3 GNAI2 HNRNPL HNRNPUL1 JUN JUNB KPNB1 KSR1 LAPTM5 LITAF LRRK1 MAP2K1 MAP2K4 MAPK8 MLANA N4BP1 NDFIP1 NDFIP2 NEDD9 NFE2 NOTCH1 NRAS NUDT21 NUMB PABPC1 PACSIN1 POLR2A POLR2B POLR2C POLR2E POU5F1 PRKACA PRRG4 RAF1 RIPK1 RNF11 RPAP2 RPAP3 SCNN1A SCNN1B SF1 SGK3 SH3GL1 SH3GL2 SMAD2 SMAD3 SMARCC1 SMARCC2 SMARCE1 SMN1 SNX9 SPART STAM2 SUFU TAB1 TP63 TP73 TRPC4 TRPV1 TRPV4 UBAP2 UBAP2L UBC UBE2C UBE2D1 UBE2D2 UBE2D3 UBE2D4 UBE2E1 UBE2E2 UBE2E3 UBE2G1 UBE2J2 UBE2K UBE2L3 UBE2M UBE2O UBE2Q1 UBE2Q2 UBE2R2 URI1 WASL WBP2 YWHAQ	14 interacting genes: APP ATF7IP FAM83D FRMD5 ITCH KAT2B KCNG3 MYL9 NEK2 PDIA6 PHF20 PLEKHA5 TTI1 YWHAG
Entrez ID		83737	11190
HPRD ID		07565	09877
Ensembl ID		ENSG00000078747	ENSG00000126001
Uniprot IDs		A0A590UJQ1 Q96J02	Q9BV73
PDB IDs		2DMV 2KYK 2NQ3 2P4R 2YSF 3TUG 4ROF 5C7M 5CQ2 5DWS 5DZD 5SXP	6OQA
Enriched GO Terms of Interacting Partners?
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