NPHP3 and NPHP1

Data Source:
BioGRID (affinity chromatography technology)
HPRD (in vivo, in vitro)

		NPHP3	NPHP1
Description		nephrocystin 3	nephrocystin 1
Image
GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium	Cytoplasm Cytosol Cytoskeleton Cell-cell Junction Adherens Junction Bicellular Tight Junction Cilium Membrane Motile Cilium Photoreceptor Connecting Cilium
	Molecular Function	Protein Binding	Structural Molecule Activity Protein 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	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		Trafficking of myristoylated proteins to the cilium	Anchoring of the basal body to the plasma membrane
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	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		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		3 interacting genes: ATXN1 DYSF NPHP1	16 interacting genes: ADAM15 ARHGAP32 BCAR1 FBXO7 FLNA FLNB FLNC INVS KHDRBS1 NPHP3 NPHP4 PAK2 PTK2B TNK2 TUBB UBQLN4
Entrez ID		27031	4867
HPRD ID		06417	09524
Ensembl ID		ENSG00000113971	ENSG00000144061
Uniprot IDs		Q7Z494	C9JNM7 O15259
PDB IDs		5L7K	1S1N 6O1Q
Enriched GO Terms of Interacting Partners?
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