CEP250 and FRMD5

		CEP250	FRMD5
Description		centrosomal protein 250	FERM domain containing 5
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	Cytoskeleton Adherens Junction Membrane Anchoring Junction
	Molecular Function	Protein Binding Protein Domain Specific Binding	Integrin Binding Protein Binding Cytoskeletal Protein 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	Regulation Of Cell Migration Actomyosin Structure Organization Positive Regulation Of Cell Adhesion Negative Regulation Of Cell Motility
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)	Appendicular lean mass ( 33097823) Hemoglobin levels ( 32327693) Lipoprotein phospholipase A2 activity in cardiovascular disease ( 28753643) Serum albumin levels ( 23022100) Serum alkaline phosphatase levels ( 33547301) Triglyceride levels ( 28334899) Triglycerides ( 20686565 24097068 25961943) Urinary tract infection frequency ( 28928442) Uterine fibroid number (single vs multiple) ( 30196971)
Interacting Genes		15 interacting genes: APP ATF7IP FAM83D FRMD5 ITCH KAT2B KCNG3 MYL9 NEK2 PDIA6 PHF20 PLEKHA5 TTI1 USP7 YWHAG	3 interacting genes: CEP250 NELFCD SC5D
Entrez ID		11190	84978
HPRD ID		09877	17493
Ensembl ID		ENSG00000126001	ENSG00000171877
Uniprot IDs		A0A9L9PXD2 Q9BV73	A0A087WVP2 A8K1U8 B3KVN9 B5MC67 H0YKW6 Q7Z6J6
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	Cholesterol Biosynthetic Process Via Lathosterol Cholesterol Biosynthetic Process Via Desmosterol C-5 Sterol Desaturase Activity Delta7-sterol 5(6)-desaturase Activity Regulation Of Centriole-centriole Cohesion NELF Complex Positive Regulation Of Protein Localization To Centrosome Regulation Of Ferroptosis Negative Regulation Of Ferroptosis Spindle Pole Centrosome Centriole-centriole Cohesion Regulation Of Protein Localization To Centrosome Detection Of Light Stimulus Involved In Visual Perception Protein Localization To Centrosome Negative Regulation Of DNA-templated Transcription, Elongation Negative Regulation Of Transcription Elongation By RNA Polymerase II Cholesterol Biosynthetic Process Sterol Biosynthetic Process Protein Localization To Cytoskeleton Non-motile Cilium Assembly Photoreceptor Inner Segment Detection Of Light Stimulus
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