NPHP3 and EPC1

		NPHP3	EPC1
Description		nephrocystin 3	enhancer of polycomb 1
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GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium Cell Projection Ciliary Inversin Compartment Ciliary Base	Nucleosome Nucleus Nucleoplasm Nucleolus Cytoplasm Nuclear Body Nuclear Membrane Piccolo Histone Acetyltransferase Complex NuA4 Histone Acetyltransferase Complex Site Of Double-strand Break
	Molecular Function	Protein Binding	Protein Binding Chromatin-protein Adaptor Activity Enzyme-substrate 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	Negative Regulation Of Transcription By RNA Polymerase II Double-strand Break Repair Via Homologous Recombination Double-strand Break Repair Via Nonhomologous End Joining Chromatin Organization DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Spermatogenesis Spermatid Development Cell Differentiation Sperm DNA Condensation Regulation Of Apoptotic Process Negative Regulation Of Gene Expression, Epigenetic Negative Regulation Of DNA-templated Transcription Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Regulation Of Cell Cycle Positive Regulation Of Double-strand Break Repair Via Homologous Recombination Regulation Of Double-strand Break Repair
Pathways		Trafficking of myristoylated proteins to the cilium	HATs acetylate histones Transcriptional Regulation by E2F6
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)	Diastolic blood pressure ( 30224653) Metabolite levels ( 23823483) Platelet distribution width ( 27863252 32888494) Sexual dysfunction (female) ( 22509378) Waist-hip index ( 34021172)
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1	8 interacting genes: CHRM5 E2F6 HOPX KRT15 MBTD1 RINT1 SYCE1L TRIM27
Entrez ID		27031	80314
HPRD ID		06417	09941
Ensembl ID		ENSG00000113971	ENSG00000120616
Uniprot IDs		Q7Z494	Q9H2F5
PDB IDs		5L7K	6NFX 8QR1 8XVG 8XVT 9C57 9C62 9C6N
Enriched GO Terms of Interacting Partners?		Double-strand Break Repair Via Nonhomologous End Joining
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