CEP250 and KCNG3

		CEP250	KCNG3
Description		centrosomal protein 250	potassium voltage-gated channel modifier subfamily G member 3
Image			No pdb structure
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	Cytoplasm Endoplasmic Reticulum Plasma Membrane Voltage-gated Potassium Channel Complex Membrane Monoatomic Ion Channel Complex
	Molecular Function	Protein Binding Protein Domain Specific Binding	Monoatomic Ion Channel Activity Voltage-gated Potassium Channel Activity Potassium Channel Activity Protein Binding Potassium Channel Regulator Activity
	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	Action Potential Monoatomic Ion Transport Potassium Ion Transport Monoatomic Ion Transmembrane Transport Regulation Of Potassium Ion Transport Protein Homooligomerization Transmembrane Transport Potassium Ion Transmembrane Transport Regulation Of Potassium Ion Transmembrane Transport
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	Voltage gated Potassium channels
Drugs			Enflurane Promethazine Miconazole
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)	Body mass index ( 25673413) Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) ( 29455858) Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) ( 29455858) Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) ( 29455858) Systolic blood pressure x smoking status (ever vs never) interaction (2df test) ( 29455858) Thrombosis ( 26908601)
Interacting Genes		15 interacting genes: APP ATF7IP FAM83D FRMD5 ITCH KAT2B KCNG3 MYL9 NEK2 PDIA6 PHF20 PLEKHA5 TTI1 USP7 YWHAG	6 interacting genes: CEP250 KCNB1 KCNB2 KCNC1 KCNF1 SNX17
Entrez ID		11190	170850
HPRD ID		09877	16232
Ensembl ID		ENSG00000126001	ENSG00000171126
Uniprot IDs		A0A9L9PXD2 Q9BV73	Q8TAE7
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	Voltage-gated Potassium Channel Activity Potassium Channel Activity Voltage-gated Potassium Channel Complex Action Potential Delayed Rectifier Potassium Channel Activity Monoatomic Ion Channel Complex Neuronal Cell Body Membrane Potassium Ion Transmembrane Transport Monoatomic Ion Channel Activity Potassium Ion Transport Protein Homooligomerization Potassium Channel Regulator Activity Protein Complex Oligomerization Regulation Of Membrane Potential Metal Ion Transport Monoatomic Cation Transmembrane Transport Inorganic Cation Transmembrane Transport Inorganic Ion Transmembrane Transport Dendrite Membrane Monoatomic Cation Transport Monoatomic Ion Transmembrane Transport Monoatomic Ion Transport Non-motile Cilium Assembly Neuronal Cell Body Transmembrane Transport Cellular Component Assembly Dendrite Cell Projection Protein-containing Complex Assembly Regulation Of Potassium Ion Transport Localization Within Membrane Protein-containing Complex Organization Transmembrane Transporter Binding Perikaryon Regulation Of Transport Positive Regulation Of Norepinephrine Secretion Globus Pallidus Development Gated Channel Activity Neuron Projection Membrane Regulation Of Centriole-centriole Cohesion Clustering Of Voltage-gated Potassium Channels Intracellular Protein Localization Protein Localization To Plasma Membrane Positive Regulation Of Long-term Synaptic Depression Positive Regulation Of Protein Localization To Centrosome Protein Localization To Cell Periphery Postsynaptic Membrane Proximal Dendrite Cholesterol Catabolic Process Cilium Assembly
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