NPHP3 and CCDC50

Data Source:
BioGRID (proximity labelling technology)

		NPHP3	CCDC50
Description		nephrocystin 3	coiled-coil domain containing 50
Image
GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium	Cytosol
	Molecular Function	Protein Binding	Protein Binding Ubiquitin Protein Ligase Binding
	Biological Process	Kidney Development Heart Looping Atrial Septum Development Determination Of Left/right Symmetry Wnt Signaling Pathway Lung Development Determination Of Pancreatic Left/right Asymmetry Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity 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 Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway Regulation Of Planar Cell Polarity Pathway Involved In Neural Tube Closure	Sensory Perception Of Sound
Pathways		Trafficking of myristoylated proteins to the cilium
Drugs
Diseases		Senior-Loken syndrome Renal-hepatic-pancreatic dysplasia Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Meckel syndrome (MKS); Meckel-Gruber syndrome
GWAS		Blood protein levels ( 28240269) 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) ( 27182965 21102462) Subcortical volume (MOSTest) ( 32665545)	Alzheimer's disease biomarkers ( 23562540) Lung cancer in never smokers ( 28604730)
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1	7 interacting genes: ARRDC3 RIPK1 RNF8 RPS3A SH3GL1 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?
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