CEP250

Description		centrosomal protein 250
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GO Annotations	Cellular Component	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	Protein Binding Protein C-terminus Binding Protein Kinase Binding Protein Domain Specific Binding
	Biological 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		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 ( 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		14 interacting genes: APP ATF7IP FAM83D FRMD5 ITCH KAT2B KCNG3 MYL9 NEK2 PDIA6 PHF20 PLEKHA5 TTI1 YWHAG
Entrez ID		11190
HPRD ID		09877
Ensembl ID		ENSG00000126001
Uniprot IDs		Q9BV73
PDB IDs		6OQA
Enriched GO Terms of Interacting Partners?
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