CEP250

Description		centrosomal protein 250
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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
	Molecular Function	Protein Binding Protein Domain Specific 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
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
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)
Novel Interacting Genes		8 novel interacting genes: FAM83D FRMD5 ITCH KCNG3 MYL9 PDIA6 PHF20 TTI1
Interacting Genes		7 interacting genes: APP ATF7IP KAT2B NEK2 PLEKHA5 USP7 YWHAG
Entrez ID		11190
HPRD ID		09877
Ensembl ID		ENSG00000126001
Uniprot IDs		A0A9L9PXD2 Q9BV73
PDB IDs		6OQA
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
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