CEP250 and FAM83D

		CEP250	FAM83D
Description		centrosomal protein 250	family with sequence similarity 83 member D
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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	Spindle Pole Cytoplasm Spindle Cytosol Cytoskeleton Microtubule Cytoskeleton Intercellular Bridge Mitotic Spindle Mitotic Spindle Pole
	Molecular Function	Protein Binding Protein Domain Specific Binding	Protein Binding Microtubule Binding Kinesin Binding Protein Kinase 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	Epithelial To Mesenchymal Transition Signal Transduction Cell Population Proliferation Cell Migration Regulation Of TOR Signaling Regulation Of Protein Catabolic Process Cell Division Metaphase Chromosome Alignment Regulation Of ERK1 And ERK2 Cascade Protein Localization To Mitotic Spindle Positive Regulation Of Cell Cycle G1/S Phase Transition
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	Signaling by EGFR
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)	Alcohol dependence or chronic alcoholic pancreatitis or alcohol-related liver cirrhosis ( 28714907) Huntington's disease progression ( 28642124)
Interacting Genes		15 interacting genes: APP ATF7IP FAM83D FRMD5 ITCH KAT2B KCNG3 MYL9 NEK2 PDIA6 PHF20 PLEKHA5 TTI1 USP7 YWHAG	7 interacting genes: CEP250 CSNK1E DYNC1I1 GADD45A GSK3B PPP1R16B PRMT1
Entrez ID		11190	81610
HPRD ID		09877	12744
Ensembl ID		ENSG00000126001	ENSG00000101447
Uniprot IDs		A0A9L9PXD2 Q9BV73	Q9H4H8
PDB IDs		6OQA	5E0L 5E0M
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	Positive Regulation Of Protein Localization To Centrosome Regulation Of Protein Localization To Centrosome Positive Regulation Of P38MAPK Cascade Viral Protein Processing Regulation Of P38MAPK Cascade Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Canonical Wnt Signaling Pathway Positive Regulation Of Ubiquitin-dependent Protein Catabolic Process Regulation Of Intracellular Signal Transduction Regulation Of Circadian Rhythm DNA Repair Positive Regulation Of Proteasomal Protein Catabolic Process Negative Regulation Of Peptidyl-serine Phosphorylation Of STAT Protein Negative Regulation Of TOR Signaling Superior Temporal Gyrus Development TOR Signaling Negative Regulation Of Type B Pancreatic Cell Development Negative Regulation Of Mesenchymal Stem Cell Differentiation Negative Regulation Of Glycogen (starch) Synthase Activity Regulation Of Microtubule Anchoring At Centrosome GATOR1 Complex Binding Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Positive Regulation Of Signal Transduction Cytoplasm Regulation Of Ubiquitin-dependent Protein Catabolic Process Cellular Response To Stress Positive Regulation Of Proteolysis Involved In Protein Catabolic Process Circadian Rhythm Negative Regulation Of Wnt Signaling Pathway Regulation Of Protein Metabolic Process Negative Regulation Of Catalytic Activity Regulation Of JNK Cascade Negative Regulation Of Protein Metabolic Process Perinuclear Region Of Cytoplasm Beta-arrestin-dependent Dopamine Receptor Signaling Pathway Regulation Of TOR Signaling Negative Regulation Of TORC2 Signaling Positive Regulation Of Translation Negative Regulation Of Dopaminergic Neuron Differentiation Regulation Of Glycogen (starch) Synthase Activity Viral Process Protein-arginine Omega-N Monomethyltransferase Activity N-methyltransferase Activity Histone H4R3 Methyltransferase Activity Positive Regulation Of Hemoglobin Biosynthetic Process Peptidyl-arginine Methylation Regulation Of Centriole-centriole Cohesion Positive Regulation Of Proteolysis DNA Metabolic Process Regulation Of Signal Transduction
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