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NPHP3 and ASTE1
NPHP3
ASTE1
Description
nephrocystin 3
asteroid structure-specific endonuclease 1
Image
No pdb structure
GO Annotations
Cellular Component
Extracellular Region
Cytosol
Cilium
Cell Projection
Ciliary Inversin Compartment
Ciliary Base
Molecular Function
Protein Binding
Single-stranded DNA Endodeoxyribonuclease Activity
Nuclease Activity
DNA Endonuclease Activity
Protein Binding
Hydrolase Activity
3' Overhang Single-stranded DNA Endodeoxyribonuclease Activity
Biological Process
Kidney Development
Heart Looping
Atrial Septum Development
Lipid Metabolic Process
Establishment Or Maintenance Of Cell Polarity
Determination Of Left/right Symmetry
Wnt Signaling Pathway
Extracellular Matrix Organization
Lung Development
Determination Of Pancreatic Left/right Asymmetry
Photoreceptor Cell Maintenance
Maintenance Of Animal Organ Identity
Convergent Extension
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
Non-motile Cilium Assembly
Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway
Double-strand Break Repair Via Homologous Recombination
Double-strand Break Repair Via Nonhomologous End Joining
DNA Recombination
Pathways
Trafficking of myristoylated proteins to the cilium
Drugs
Diseases
Renal-hepatic-pancreatic dysplasia
Meckel syndrome (MKS); Meckel-Gruber 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
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) (
21102462
27182965
)
Serum alkaline phosphatase levels (
33547301
)
Subcortical volume (MOSTest) (
32665545
)
Phenylephrine infusion rate during anesthesia (
31455332
)
Restless legs syndrome (
29029846
)
Interacting Genes
3 interacting genes:
ATXN1
DYSF
NPHP1
1 interacting genes:
XRCC4
Entrez ID
27031
28990
HPRD ID
06417
11038
Ensembl ID
ENSG00000113971
ENSG00000034533
Uniprot IDs
Q7Z494
D6RG30
Q2TB18
PDB IDs
5L7K
Enriched GO Terms of Interacting Partners
?
Double-strand Break Repair Via Nonhomologous End Joining
FHA Domain Binding
Determination Of Stomach Left/right Asymmetry
Determination Of Intestine Left/right Asymmetry
Positive Regulation Of Phosphatidylserine Exposure On Apoptotic Cell Surface
Positive Regulation Of Phospholipid Translocation
DNA-dependent Protein Kinase-DNA Ligase 4 Complex
Positive Regulation Of Ligase Activity
DNA Ligase IV Complex
Maintenance Of Animal Organ Identity
Ureter Development
Ciliary Inversin Compartment
Determination Of Digestive Tract Left/right Asymmetry
Determination Of Pancreatic Left/right Asymmetry
Convergent Extension Involved In Gastrulation
Determination Of Liver Left/right Asymmetry
Immunoglobulin V(D)J Recombination
Nonhomologous End Joining Complex
Atrial Septum Development
Positive Regulation Of Phospholipid Transport
Epithelial Cilium Movement Involved In Determination Of Left/right Asymmetry
Convergent Extension
Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway
Kidney Morphogenesis
Cellular Response To Lithium Ion
Regulation Of Plasma Membrane Organization
Response To Lithium Ion
V(D)J Recombination
Regulation Of Non-canonical Wnt Signaling Pathway
Protein Localization To Site Of Double-strand Break
Response To X-ray
Somatic Recombination Of Immunoglobulin Gene Segments
Condensed Chromosome
Base-excision Repair
Photoreceptor Cell Maintenance
Regulation Of Membrane Lipid Distribution
Somatic Cell DNA Recombination
Somatic Diversification Of Immunoglobulins
Epithelial Cilium Movement Involved In Extracellular Fluid Movement
Cardiac Septum Development
Extracellular Transport
Ciliary Base
Non-motile Cilium Assembly
Double-strand Break Repair Via Nonhomologous End Joining
Heart Looping
Embryonic Heart Tube Morphogenesis
Positive Regulation Of Lipid Transport
Determination Of Bilateral Symmetry
Determination Of Left/right Symmetry
Site Of Double-strand Break
Lung Development
Tagcloud
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Tagcloud (Difference)
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Tagcloud (Intersection)
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