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 Cell Projection Anchoring Junction
	Molecular Function	Structural Molecule Activity Protein Binding
	Biological Process	Signal Transduction Spermatogenesis Visual Behavior Cell Projection Organization Actin Cytoskeleton Organization Cell Differentiation Spermatid Differentiation Retina Development In Camera-type Eye Protein Localization Involved In Establishment Of Planar Polarity 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		B4DQY0 C9JNM7 O15259
PDB IDs		1S1N 6O1Q
Enriched GO Terms of Interacting Partners?		Regulation Of Cellular Component Organization Anchoring Junction Vascular Endothelial Growth Factor Receptor Signaling Pathway Focal Adhesion Cell Surface Receptor Signaling Pathway Cytosol Cell Projection Cell Cortex Signal Transduction Endothelin Receptor Signaling Pathway Apical Dendrite Integrin-mediated Signaling Pathway Protein Localization To Cell-cell Junction Actin Cytoskeleton SH3 Domain Binding Developmental Process Cytoplasm Regulation Of Apoptotic Process Cytoskeleton Organization Immune System Process Z Disc Negative Regulation Of Canonical Wnt Signaling Pathway Regulation Of Programmed Cell Death Actin Cytoskeleton Organization Neurotransmitter Receptor Regulator Activity Perinuclear Region Of Cytoplasm Non-membrane Spanning Protein Tyrosine Kinase Activity Regulation Of Membrane Repolarization During Atrial Cardiac Muscle Cell Action Potential Actin Filament-based Process Kidney Development BIM-BCL-2 Complex BIM-BCL-xl Complex Grb2-Sos Complex Glial Cytoplasmic Inclusion Classical Lewy Body Lewy Body Corona Lewy Neurite Determination Of Stomach Left/right Asymmetry Photoreceptor Cell Maintenance Determination Of Intestine Left/right Asymmetry Negative Regulation Of Wnt Signaling Pathway Ciliary Base Protein Localization To Ciliary Inversin Compartment Protein Kinase Binding Actin Filament Binding Cell-cell Junction Regulation Of Cell-substrate Adhesion Cell Adhesion Positive Regulation Of Cellular Component Biogenesis Regulation Of Signal Transduction
Tagcloud ?