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NPHP3 and TOPBP1
Data Source:
BioGRID
(biochemical)
NPHP3
TOPBP1
Description
nephrocystin 3
DNA topoisomerase II binding protein 1
Image
GO Annotations
Cellular Component
Extracellular Region
Cytosol
Cilium
Condensed Nuclear Chromosome
Spindle Pole
Male Germ Cell Nucleus
Nucleus
Nucleoplasm
Chromosome
Cytoplasm
Microtubule Organizing Center
Plasma Membrane
Actin Cytoskeleton
Nuclear Body
PML Body
Intracellular Membrane-bounded Organelle
Molecular Function
Protein Binding
DNA Binding
Protein Binding
Protein C-terminus Binding
Identical Protein Binding
Biological Process
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
DNA Metabolic Process
DNA Replication
DNA Replication Initiation
DNA Repair
Cellular Response To DNA Damage Stimulus
Mitotic G2 DNA Damage Checkpoint
Response To Ionizing Radiation
Mitotic DNA Replication Checkpoint
Regulation Of Signal Transduction By P53 Class Mediator
Pathways
Trafficking of myristoylated proteins to the cilium
HDR through Single Strand Annealing (SSA)
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Drugs
Diseases
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
)
Iron status biomarkers (
19084217
)
Interacting Genes
3 interacting genes:
ATXN1
DYSF
NPHP1
32 interacting genes:
ABL1
AKT1
ATM
BLM
BMPR2
BRIP1
CDC45
CHEK1
CLSTN1
E2F1
ESR1
FHL3
GINS1
HUS1
PML
POLE
PPHLN1
PPP1CC
RAD1
RAD9A
RAI1
RBBP8
RHNO1
SF3B2
SMARCAD1
TBC1D4
TCFL5
TEX11
TICRR
TOP2B
UBR5
ZBTB17
Entrez ID
27031
11073
HPRD ID
06417
09678
Ensembl ID
ENSG00000113971
ENSG00000163781
Uniprot IDs
Q7Z494
A0AV47
A7E2X7
Q05BV8
Q92547
PDB IDs
5L7K
1WF6
2XNH
2XNK
3AL2
3AL3
3JVE
3OLC
3PD7
3UEN
3UEO
6RML
6RMM
Enriched GO Terms of Interacting Partners
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Tagcloud (Intersection)
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