NPHP3 and DNAJC13

		NPHP3	DNAJC13
Description		nephrocystin 3	DnaJ heat shock protein family (Hsp40) member C13
Image			No pdb structure
GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium Cell Projection Ciliary Inversin Compartment Ciliary Base	Lysosomal Membrane Endosome Early Endosome Cytosol Plasma Membrane Endosome Membrane Membrane Secretory Granule Membrane Early Endosome Membrane Azurophil Granule Membrane Extracellular Exosome WASH Complex
	Molecular Function	Protein Binding	Protein Binding
	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	Osteoblast Differentiation Receptor-mediated Endocytosis Endosome Organization Protein Transport Regulation Of Early Endosome To Recycling Endosome Transport Regulation Of Early Endosome To Late Endosome Transport
Pathways		Trafficking of myristoylated proteins to the cilium	Neutrophil degranulation
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)	Apolipoprotein B levels ( 32203549) Appendicular lean mass ( 33097823) Aspartate aminotransferase levels ( 33547301) Body mass index ( 26426971) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Coronary artery disease ( 29212778) Cortical surface area (MOSTest) ( 32665545) Hematocrit ( 32888494) Hemoglobin ( 32888494) Hemoglobin levels ( 32327693) Iron status biomarkers (total iron binding capacity) ( 28334935) Iron status biomarkers (transferrin saturation) ( 28334935) LDL cholesterol ( 30275531) LDL cholesterol levels ( 32203549) Liver enzyme levels (alkaline phosphatase) ( 33972514) Low density lipoprotein cholesterol levels ( 32154731) Mean corpuscular hemoglobin ( 32888494) Mean corpuscular hemoglobin concentration ( 32888494) Mean corpuscular volume ( 32888494) Neutrophil count ( 32888494) Red cell distribution width ( 32888494 28957414 27863252) Refractive error ( 32231278) Subcortical volume (MOSTest) ( 32665545) Total cholesterol levels ( 30275531) Urate levels ( 31578528) White blood cell count ( 32888494)
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1	7 interacting genes: CALM1 CLK1 DNAJB11 GADD45A GSK3B RNF26 RPS6KA6
Entrez ID		27031	23317
HPRD ID		06417	10915
Ensembl ID		ENSG00000113971	ENSG00000138246
Uniprot IDs		Q7Z494	B3KN02 O75165
PDB IDs		5L7K
Enriched GO Terms of Interacting Partners?		Double-strand Break Repair Via Nonhomologous End Joining	Negative Regulation Of Developmental Process Regulation Of Multicellular Organismal Process Negative Regulation Of High Voltage-gated Calcium Channel Activity Negative Regulation Of Ryanodine-sensitive Calcium-release Channel Activity Regulation Of Calcium-mediated Signaling Protein Serine/threonine Kinase Activity Protein Serine Kinase Activity Negative Regulation Of Peptidyl-serine Phosphorylation Of STAT Protein Superior Temporal Gyrus Development TOR Signaling Negative Regulation Of Type B Pancreatic Cell Development Negative Regulation Of Mesenchymal Stem Cell Differentiation Negative Regulation Of Glycogen (starch) Synthase Activity Regulation Of Microtubule Anchoring At Centrosome Determination Of Stomach Left/right Asymmetry Determination Of Intestine Left/right Asymmetry Negative Regulation Of Embryonic Development Mitotic Cell Cycle Phase Transition Mitochondrion-endoplasmic Reticulum Membrane Tethering Positive Regulation Of Sequestering Of Calcium Ion Regulation Of Ryanodine-sensitive Calcium-release Channel Activity Negative Regulation Of Release Of Sequestered Calcium Ion Into Cytosol Transporter Inhibitor Activity Negative Regulation Of Calcium Ion Export Across Plasma Membrane Regulation Of Calcium Ion Export Across Plasma Membrane Adenylate Cyclase Activator Activity Autophagosome Membrane Docking Cell Cycle Phase Transition Kinase Activity Protein Kinase Activity Negative Regulation Of Catalytic Activity Negative Regulation Of Peptidyl-serine Phosphorylation Signal Transduction In Response To DNA Damage Negative Regulation Of Multicellular Organismal Process Regulation Of Developmental Process Negative Regulation Of Canonical Wnt Signaling Pathway Negative Regulation Of Wnt Signaling Pathway Beta-arrestin-dependent Dopamine Receptor Signaling Pathway Positive Regulation Of Protein Localization To Cilium Negative Regulation Of TORC2 Signaling Negative Regulation Of Cell Differentiation Establishment Or Maintenance Of Cell Polarity Negative Regulation Of Dopaminergic Neuron Differentiation Cellular Response To Interleukin-3 Regulation Of Glycogen (starch) Synthase Activity Positive Regulation Of Protein Localization To Centrosome Maintenance Of Animal Organ Identity Ureter Development Ciliary Inversin Compartment Determination Of Digestive Tract Left/right Asymmetry
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