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