CEP250 and PDIA6

		CEP250	PDIA6
Description		centrosomal protein 250	protein disulfide isomerase family A member 6
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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	Extracellular Space Endoplasmic Reticulum Endoplasmic Reticulum Lumen Endoplasmic Reticulum Membrane Endoplasmic Reticulum-Golgi Intermediate Compartment Cytosol Plasma Membrane Endoplasmic Reticulum Chaperone Complex Melanosome Extracellular Exosome
	Molecular Function	Protein Binding Protein C-terminus Binding Protein Kinase Binding Protein Domain Specific Binding	Protein Disulfide Isomerase Activity Protein Binding Protein-disulfide Reductase Activity
	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	Protein Folding
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	XBP1(S) activates chaperone genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
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)	Blood protein levels ( 30072576) Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) ( 31374203) Dental caries (decayed, missing and filled teeth) ( 31533690) Dental caries (decayed, missing and filled tooth surfaces) ( 31533690)
Interacting Genes		14 interacting genes: APP ATF7IP FAM83D FRMD5 ITCH KAT2B KCNG3 MYL9 NEK2 PDIA6 PHF20 PLEKHA5 TTI1 YWHAG	21 interacting genes: ATP13A2 CASP8 CEP250 CLN8 CSNK2A1 GET3 LGALS9 LINC01554 MC4R MTNR1A MTNR1B NPC2 OGT SGTB SLC22A2 SLC2A4 SUMO4 THAP1 TRIM14 UBE3A VKORC1
Entrez ID		11190	10130
HPRD ID		09877	07504
Ensembl ID		ENSG00000126001	ENSG00000143870
Uniprot IDs		Q9BV73	A0A384NPU5 Q15084
PDB IDs		6OQA	1X5D 3VWW 3W8J 4EF0 4GWR
Enriched GO Terms of Interacting Partners?
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