NPHP3 and TOPBP1

		NPHP3	TOPBP1
Description		nephrocystin 3	DNA topoisomerase II binding protein 1
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GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium Cell Projection Ciliary Inversin Compartment Ciliary Base	Condensed Nuclear Chromosome Spindle Pole Male Germ Cell Nucleus Nucleus Nucleoplasm Chromosome Cytoplasm Centrosome Cytoskeleton Plasma Membrane Actin Cytoskeleton Nuclear Body PML Body Site Of Double-strand Break BRCA1-B Complex Site Of DNA Damage
	Molecular Function	Protein Binding	DNA Binding Protein Binding Identical Protein Binding Protein Serine/threonine Kinase Activator Activity Phosphorylation-dependent Protein Binding Chromatin-protein Adaptor 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	DNA Replication Checkpoint Signaling DNA Damage Checkpoint Signaling Double-strand Break Repair Via Homologous Recombination DNA Metabolic Process DNA Replication Initiation DNA Repair Double-strand Break Repair Chromatin Organization DNA Damage Response Mitotic G2 DNA Damage Checkpoint Signaling Response To Ionizing Radiation Mitotic DNA Replication Checkpoint Signaling Homologous Recombination Chromosome Organization Double-strand Break Repair Via Classical Nonhomologous End Joining Double-strand Break Repair Via Alternative Nonhomologous End Joining Broken Chromosome Clustering Protein Localization To Site Of Double-strand Break
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 Impaired BRCA2 binding to RAD51
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)	Iron status biomarkers ( 19084217)
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1	30 interacting genes: ABL1 AKT1 ATM BMPR2 BRIP1 CDC45 CHEK1 CIP2A CLSTN1 E2F1 ESR1 GINS1 HUS1 NFYA PML POLE PPHLN1 PPP1CC RAD1 RAD9A RAI1 RBBP8 SMARCAD1 TBC1D4 TCFL5 TEX11 TOP2B UBR5 USP13 ZBTB17
Entrez ID		27031	11073
HPRD ID		06417	09678
Ensembl ID		ENSG00000113971	ENSG00000163781
Uniprot IDs		Q7Z494	A0A2R8YD63 A0AV47 A7E2X7 Q05BV8 Q92547
PDB IDs		5L7K	1WF6 2XNH 2XNK 3AL2 3AL3 3JVE 3OLC 3PD7 3UEN 3UEO 6RML 6RMM 7CMZ 8OK2
Enriched GO Terms of Interacting Partners?		Double-strand Break Repair Via Nonhomologous End Joining	DNA Metabolic Process Negative Regulation Of Cell Cycle DNA Damage Response Nucleic Acid Metabolic Process Signal Transduction In Response To DNA Damage Cellular Response To Stress Nucleoplasm DNA Repair Negative Regulation Of Cell Cycle Phase Transition Nucleobase-containing Compound Metabolic Process DNA Damage Checkpoint Signaling Negative Regulation Of Cell Cycle Process Regulation Of Cell Cycle Phase Transition Regulation Of Cell Cycle Chromosome Macromolecule Metabolic Process Checkpoint Clamp Complex Negative Regulation Of Mitotic Cell Cycle DNA Double-strand Break Processing Intracellular Signal Transduction Nucleus Chromosome Organization Regulation Of Mitotic Cell Cycle Reproductive Process Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Regulation Of Cell Cycle Process Homologous Recombination Response To Stress Mitotic G2/M Transition Checkpoint Positive Regulation Of Fibroblast Proliferation Regulation Of Cellular Response To Stress DNA Recombination Cellular Senescence DNA Replication Checkpoint Signaling Regulation Of RNA Biosynthetic Process Response To Ionizing Radiation Regulation Of Double-strand Break Repair Mitotic DNA Damage Checkpoint Signaling Negative Regulation Of G2/M Transition Of Mitotic Cell Cycle Negative Regulation Of Cell Cycle G2/M Phase Transition Mitotic DNA Integrity Checkpoint Signaling Cellular Response To Ionizing Radiation Response To Radiation Regulation Of Nucleobase-containing Compound Metabolic Process Intrinsic Apoptotic Signaling Pathway Positive Regulation Of RNA Biosynthetic Process Developmental Process Involved In Reproduction Regulation Of RNA Metabolic Process Regulation Of Fibroblast Proliferation Regulation Of DNA Metabolic Process
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