CCDC50 and NPHP3

Data Source:
BioGRID (proximity labelling technology)

		CCDC50	NPHP3
Description		coiled-coil domain containing 50	nephrocystin 3
Image
GO Annotations	Cellular Component	Cytosol	Extracellular Region Cytosol Cilium
	Molecular Function	Protein Binding Ubiquitin Protein Ligase Binding	Protein Binding
	Biological Process	Sensory Perception Of Sound	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
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		Alzheimer's disease biomarkers ( 23562540) Lung cancer in never smokers ( 28604730)	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)
Interacting Genes		7 interacting genes: ARRDC3 RIPK1 RNF8 RPS3A SH3GL1 TNFAIP3 UBC	3 interacting genes: ATXN1 DYSF NPHP1
Entrez ID		152137	27031
HPRD ID		06463	06417
Ensembl ID		ENSG00000152492	ENSG00000113971
Uniprot IDs		Q8IVM0	Q7Z494
PDB IDs		6LAN	5L7K
Enriched GO Terms of Interacting Partners?
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