EPC1 and NPHP3

		EPC1	NPHP3
Description		enhancer of polycomb 1	nephrocystin 3
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GO Annotations	Cellular Component	Nucleosome Nucleus Nucleoplasm Nucleolus Cytoplasm Nuclear Body Nuclear Membrane Piccolo Histone Acetyltransferase Complex NuA4 Histone Acetyltransferase Complex Site Of Double-strand Break	Extracellular Region Cytosol Cilium Cell Projection Ciliary Inversin Compartment Ciliary Base
	Molecular Function	Protein Binding Chromatin-protein Adaptor Activity Enzyme-substrate Adaptor Activity	Protein Binding
	Biological Process	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	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
Pathways		HATs acetylate histones Transcriptional Regulation by E2F6	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		Diastolic blood pressure ( 30224653) Metabolite levels ( 23823483) Platelet distribution width ( 27863252 32888494) Sexual dysfunction (female) ( 22509378) Waist-hip index ( 34021172)	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)
Interacting Genes		9 interacting genes: CHRM5 E2F6 HOPX KRT15 MBTD1 NPHP3 RINT1 SYCE1L TRIM27	18 interacting genes: ANAPC13 ASTE1 ATXN1 CCDC50 CDV3 COL7A1 DDX3Y DNAJC13 DPP7 DYSF EPC1 NAA50 NPHP1 PARP14 PIK3R4 PPP2R3A RAB6B TOPBP1
Entrez ID		80314	27031
HPRD ID		09941	06417
Ensembl ID		ENSG00000120616	ENSG00000113971
Uniprot IDs		Q9H2F5	Q7Z494
PDB IDs		6NFX 8QR1 8XVG 8XVT 9C57 9C62 9C6N	5L7K
Enriched GO Terms of Interacting Partners?			Double-strand Break Repair Via Nonhomologous End Joining
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