NPHP3 and CCDC50

		NPHP3	CCDC50
Description		nephrocystin 3	coiled-coil domain containing 50
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GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium Cell Projection Ciliary Inversin Compartment Ciliary Base	Cytoplasm Cytosol Ciliary Basal Body
	Molecular Function	Protein Binding	Protein Binding Ubiquitin Protein Ligase Binding
	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	Sensory Perception Of Sound
Pathways		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		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)	Alzheimer's disease biomarkers ( 23562540) Lung cancer in never smokers ( 28604730)
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1	14 interacting genes: ARRDC3 HNRNPA1 IFIH1 MAP1LC3B MAVS RIGI RIPK1 RNF26 RNF8 RPS3A SH3GL1 STING1 TNFAIP3 UBC
Entrez ID		27031	152137
HPRD ID		06417	06463
Ensembl ID		ENSG00000113971	ENSG00000152492
Uniprot IDs		Q7Z494	Q8IVM0
PDB IDs		5L7K	6LAN
Enriched GO Terms of Interacting Partners?		Double-strand Break Repair Via Nonhomologous End Joining	Regulation Of Defense Response To Virus Positive Regulation Of Response To Cytokine Stimulus Cellular Response To DsRNA Cellular Response To Exogenous DsRNA Cytoplasmic Pattern Recognition Receptor Signaling Pathway Response To Exogenous DsRNA Positive Regulation Of Interferon-beta Production Regulation Of Defense Response To Virus By Host Response To DsRNA Regulation Of Type I Interferon Production Ubiquitin Protein Ligase Binding Regulation Of Interferon-beta Production Pattern Recognition Receptor Signaling Pathway Regulation Of Tumor Necrosis Factor Production Innate Immune Response-activating Signaling Pathway Antiviral Innate Immune Response Activation Of Innate Immune Response Positive Regulation Of Type I Interferon Production Intracellular Receptor Signaling Pathway Positive Regulation Of Defense Response Positive Regulation Of Interferon-alpha Production Positive Regulation Of Tumor Necrosis Factor Production Positive Regulation Of Tumor Necrosis Factor Superfamily Cytokine Production Regulation Of Cytokine Production Regulation Of Defense Response Positive Regulation Of Defense Response To Virus By Host Identical Protein Binding Detection Of Virus Positive Regulation Of Innate Immune Response Regulation Of Interleukin-6 Production Single-stranded RNA Binding Immune Response-activating Signaling Pathway Regulation Of Type III Interferon Production Regulation Of Cytokine-mediated Signaling Pathway Positive Regulation Of Myeloid Dendritic Cell Cytokine Production MRNA Transcription Immune Response-regulating Signaling Pathway Positive Regulation Of Interleukin-8 Production Activation Of Immune Response Positive Regulation Of Cytokine-mediated Signaling Pathway Regulation Of Innate Immune Response Signaling Adaptor Activity Positive Regulation Of Dendritic Cell Cytokine Production Positive Regulation Of Cytokine Production Regulation Of Interleukin-8 Production Positive Regulation Of Interleukin-6 Production Defense Response To Virus Regulation Of Dendritic Cell Cytokine Production Positive Regulation Of Type I Interferon-mediated Signaling Pathway Positive Regulation Of Immune System Process
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