NPHP1

Gene Name		nephronophthisis 1 (juvenile)
Image
Gene Ontology Annotations	Cellular Component	Cytosol Cytoskeleton Cell-cell Junction Adherens Junction Tight Junction Membrane Motile Cilium Photoreceptor Connecting Cilium Ciliary Transition Zone Ciliary Base
	Molecular Function	Structural Molecule Activity Protein Binding
	Biological Process	Organelle Organization Signal Transduction Excretion Visual Behavior Single Organismal Cell-cell Adhesion Cell Projection Organization Actin Cytoskeleton Organization Cellular Protein Localization Photoreceptor Cell Outer Segment Organization Spermatid Differentiation Retina Development In Camera-type Eye
Pathways		Organelle biogenesis and maintenance Assembly of the primary cilium Anchoring of the basal body to the plasma membrane
Drugs
Diseases
GWAS
Protein-protein Interactions		15 interactors: ADAM15 ARHGAP32 BCAR1 FLNA FLNB FLNC INVS KHDRBS1 NPHP3 NPHP4 PAK2 PTK2B TNK2 TUBB UBQLN4
Entrez ID		4867
HPRD ID		09524
Ensembl ID		ENSG00000144061
Uniprot IDs		B4DQY0 C9JNM7 O15259
PDB IDs		1S1N
Enriched GO Terms of Interacting Partners?		Cell Surface Receptor Signaling Pathway Signal Transduction Signaling Cell Communication Movement Of Cell Or Subcellular Component Actin Cytoskeleton Organization Vascular Endothelial Growth Factor Receptor Signaling Pathway Actin Filament-based Process Cytoskeleton Organization Cellular Response To Stimulus Response To Stimulus Integrin-mediated Signaling Pathway Innate Immune Response Regulation Of Signal Transduction Negative Regulation Of Canonical Wnt Signaling Pathway Positive Regulation Of Peptidyl-tyrosine Phosphorylation Tissue Homeostasis Photoreceptor Cell Maintenance Regulation Of Signaling Negative Regulation Of Wnt Signaling Pathway Peptidyl-tyrosine Autophosphorylation Cell Junction Assembly Protein Autophosphorylation Regulation Of Peptidyl-tyrosine Phosphorylation Regulation Of Canonical Wnt Signaling Pathway Developmental Process Multicellular Organismal Homeostasis Tissue Development Cell Differentiation Regulation Of Growth Cell Projection Organization Cell Development Positive Regulation Of Endothelial Cell Migration Epithelial To Mesenchymal Transition Cell Adhesion Intracellular Signal Transduction Transmembrane Receptor Protein Tyrosine Kinase Signaling Pathway Retina Homeostasis Determination Of Stomach Left/right Asymmetry Determination Of Intestine Left/right Asymmetry Locomotion Regulation Of Wnt Signaling Pathway Actin Filament Organization Immune Response Positive Regulation Of Translation Anatomical Structure Development Mitotic Cell Cycle Defense Response Positive Regulation Of Epithelial Cell Migration Regulation Of Cell Growth
Tagcloud ?		ahi1 bardet biedl c2cd3 cc2d2a cc2d2b ccdc135 cep76 cilia ciliogenesis ciliopathies dyneins gruber jbts jouberin joubert meckel midasins mks mks6 moxr nephronophthisis nphp4 rpgrip1 rpgrip1l tgl throw ttl