PIK3R4 and NPHP3

		PIK3R4	NPHP3
Description		phosphoinositide-3-kinase regulatory subunit 4	nephrocystin 3
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GO Annotations	Cellular Component	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	Extracellular Region Cytosol Cilium Cell Projection Ciliary Inversin Compartment Ciliary Base
	Molecular Function	Nucleotide Binding Protein Kinase Activity Protein Serine/threonine Kinase Activity Protein Binding ATP Binding Kinase Activity Transferase Activity Protein Serine Kinase Activity	Protein Binding
	Biological Process	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	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
Pathways		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	Trafficking of myristoylated proteins to the cilium
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		Abdominal aortic calcification levels ( 31659325) Refractive error ( 32231278)	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)
Interacting Genes		8 interacting genes: DSCR9 FNDC3B MAPRE1 NPHP3 PIK3C3 RACK1 SMAD6 YWHAB	18 interacting genes: ANAPC13 ASTE1 ATXN1 CCDC50 CDV3 COL7A1 DDX3Y DNAJC13 DPP7 DYSF EPC1 NAA50 NPHP1 PARP14 PIK3R4 PPP2R3A RAB6B TOPBP1
Entrez ID		30849	27031
HPRD ID		04010	06417
Ensembl ID		ENSG00000196455	ENSG00000113971
Uniprot IDs		Q99570	Q7Z494
PDB IDs		7BL1 8SOR 9C82 9MHF 9MHG 9MHH	5L7K
Enriched GO Terms of Interacting Partners?		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	Double-strand Break Repair Via Nonhomologous End Joining
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