NPHP1

Description		nephrocystin 1
Image
GO Annotations	Cellular Component	Cytoplasm Cytosol Cytoskeleton Cell-cell Junction Adherens Junction Bicellular Tight Junction Cilium Membrane Motile Cilium Photoreceptor Connecting Cilium
	Molecular Function	Structural Molecule Activity Protein Binding
	Biological Process	Signal Transduction Excretion Visual Behavior Cell Projection Organization Actin Cytoskeleton Organization Spermatid Differentiation Retina Development In Camera-type Eye Protein Localization Involved In Establishment Of Planar Polarity Ciliary Basal Body-plasma Membrane Docking Cell-cell Adhesion Positive Regulation Of Bicellular Tight Junction Assembly
Pathways		Anchoring of the basal body to the plasma membrane
Drugs
Diseases		Joubert 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
Novel Interacting Genes		2 novel interacting genes: BCL2L11 COX5B
Interacting Genes		16 interacting genes: ADAM15 ARHGAP32 BCAR1 FBXO7 FLNA FLNB FLNC INVS KHDRBS1 NPHP3 NPHP4 PAK2 PTK2B TNK2 TUBB UBQLN4
Entrez ID		4867
HPRD ID		09524
Ensembl ID		ENSG00000144061
Uniprot IDs		C9JNM7 O15259
PDB IDs		1S1N 6O1Q
Enriched GO Terms of Interacting Partners?
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