NPHP3 and EPC1

Data Source:
BioGRID (affinity chromatography technology, affinity chromatography technology)

		NPHP3	EPC1
Description		nephrocystin 3	enhancer of polycomb homolog 1
Image
GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium	Nucleus Nucleoplasm Nuclear Membrane Piccolo NuA4 Histone Acetyltransferase Complex NuA4 Histone Acetyltransferase Complex Intracellular Membrane-bounded Organelle
	Molecular Function	Protein Binding	Histone Acetyltransferase Activity 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	Negative Regulation Of Transcription By RNA Polymerase II Transcription, DNA-templated Regulation Of Transcription By RNA Polymerase II Vascular Associated Smooth Muscle Cell Differentiation Regulation Of Growth Histone H4 Acetylation Histone H2A Acetylation Negative Regulation Of Gene Expression, Epigenetic Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Negative Regulation Of G0 To G1 Transition
Pathways		Trafficking of myristoylated proteins to the cilium	HATs acetylate histones Transcriptional Regulation by E2F6
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)	Diastolic blood pressure ( 30224653) Metabolite levels ( 23823483) Platelet distribution width ( 32888494 27863252) Sexual dysfunction (female) ( 22509378)
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1	9 interacting genes: CHRM5 E2F6 HOPX KAT5 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
Enriched GO Terms of Interacting Partners?
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