NPHP3

Gene Name		nephronophthisis 3 (adolescent)
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Cytosol Cilium Primary Cilium
	Molecular Function	Protein Binding
	Biological Process	Kidney Development Heart Looping Atrial Septum Development Organelle Organization Determination Of Left/right Symmetry Wnt Signaling Pathway Lung Development Determination Of Pancreatic Left/right Asymmetry Photoreceptor Cell Maintenance Maintenance Of Organ Identity Convergent Extension Involved In Gastrulation Cilium Morphogenesis 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		Cargo trafficking to the periciliary membrane Organelle biogenesis and maintenance Trafficking of myristoylated proteins to the cilium Assembly of the primary cilium
Drugs
Diseases
GWAS		Menarche (age at onset) ( 21102462)
Protein-protein Interactions		2 interactors: ATXN1 NPHP1
Entrez ID		27031
HPRD ID		06417
Ensembl ID		ENSG00000113971
Uniprot IDs		Q7Z494
PDB IDs
Enriched GO Terms of Interacting Partners?		Visual Behavior Response To Light Stimulus Response To Radiation Single-organism Behavior Photoreceptor Cell Outer Segment Organization Behavior Negative Regulation Of Insulin-like Growth Factor Receptor Signaling Pathway Regulation Of Insulin-like Growth Factor Receptor Signaling Pathway Response To Abiotic Stimulus
Tagcloud ?		3q21 adolescent amaurosis autosomal boundaries cha cystic descent exons haplotypes homozygosity indicative intron kiaa0678 leber loken mapped mutational nephronophthisis nph3 perones q22 recessive senior sequenced sls sls3 slsn3