NPHP3 and PIK3R4

		NPHP3	PIK3R4
Description		nephrocystin 3	phosphoinositide-3-kinase regulatory subunit 4
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GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium Cell Projection Ciliary Inversin Compartment Ciliary Base	Cytoplasm Endosome Late Endosome Autophagosome Cytosol Cytoskeleton Cilium Axoneme Microtubule Cytoskeleton Membrane Phagocytic Vesicle Membrane Cytoplasmic Vesicle Phosphatidylinositol 3-kinase Complex, Class III, Type I Phosphatidylinositol 3-kinase Complex, Class III, Type II Phosphatidylinositol 3-kinase Complex, Class III Ciliary Basal Body Intercellular Bridge Nucleus-vacuole Junction
	Molecular Function	Protein Binding	Nucleotide Binding Protein Kinase Activity Protein Serine/threonine Kinase Activity Protein Binding ATP Binding Kinase Activity Transferase Activity Protein Serine Kinase Activity
	Biological Process	Kidney Development Heart Looping Atrial Septum Development Lipid Metabolic Process Establishment Or Maintenance Of Cell Polarity Determination Of Left/right Symmetry Wnt Signaling Pathway Extracellular Matrix Organization Lung Development Determination Of Pancreatic Left/right Asymmetry Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity Convergent Extension Convergent Extension Involved In Gastrulation Cilium Assembly Epithelial Cilium Movement Involved In Determination Of Left/right Asymmetry Kidney Morphogenesis Determination Of Intestine Left/right Asymmetry Determination Of Stomach Left/right Asymmetry Determination Of Liver Left/right Asymmetry Ureter Development Negative Regulation Of Canonical Wnt Signaling Pathway Non-motile Cilium Assembly Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway	Pexophagy Protein Phosphorylation Protein Targeting To Lysosome Protein Targeting To Vacuole Regulation Of Autophagy Macroautophagy Regulation Of Macroautophagy Regulation Of Cytokinesis Receptor Catabolic Process Phosphatidylinositol-3-phosphate Biosynthetic Process Cellular Response To Glucose Starvation Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Early Endosome To Late Endosome Transport Late Endosome To Vacuole Transport Autophagosome Maturation
Pathways		Trafficking of myristoylated proteins to the cilium	PI3K Cascade Macroautophagy Synthesis of PIPs at the Golgi membrane Synthesis of PIPs at the early endosome membrane Synthesis of PIPs at the late endosome membrane Toll Like Receptor 9 (TLR9) Cascade RHO GTPases Activate NADPH Oxidases Translation of Replicase and Assembly of the Replication Transcription Complex Translation of Replicase and Assembly of the Replication Transcription Complex SARS-CoV-2 activates/modulates innate and adaptive immune responses Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Drugs
Diseases		Renal-hepatic-pancreatic dysplasia Meckel syndrome (MKS); Meckel-Gruber syndrome Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Senior-Loken syndrome
GWAS		Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Mean corpuscular hemoglobin ( 27863252) Mean corpuscular volume ( 27863252) Menarche (age at onset) ( 21102462 27182965) Serum alkaline phosphatase levels ( 33547301) Subcortical volume (MOSTest) ( 32665545)	Abdominal aortic calcification levels ( 31659325) Refractive error ( 32231278)
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1	6 interacting genes: DSCR9 FNDC3B MAPRE1 PIK3C3 RACK1 YWHAB
Entrez ID		27031	30849
HPRD ID		06417	04010
Ensembl ID		ENSG00000113971	ENSG00000196455
Uniprot IDs		Q7Z494	Q99570
PDB IDs		5L7K	7BL1 8SOR 9C82 9MHF 9MHG 9MHH
Enriched GO Terms of Interacting Partners?		Double-strand Break Repair Via Nonhomologous End Joining	Cardiac Septum Development Type I Activin Receptor Binding Protein Sequestering Activity Cadherin Binding IRE1-RACK1-PP2A Complex Negative Regulation Of Translational Frameshifting Non-motile Cilium Assembly Protein Localization To Mitotic Spindle Protein Localization To Astral Microtubule Protein Localization To Spindle Microtubule Determination Of Stomach Left/right Asymmetry Determination Of Intestine Left/right Asymmetry
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