NPHP3 and COL7A1

Data Source:
BioGRID (affinity chromatography technology)

		NPHP3	COL7A1
Description		nephrocystin 3	collagen type VII alpha 1 chain
Image			No pdb structure
GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium	Golgi Membrane Extracellular Region Collagen Type VII Trimer Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen COPII-coated ER To Golgi Transport Vesicle Endoplasmic Reticulum-Golgi Intermediate Compartment Membrane Collagen-containing Extracellular Matrix
	Molecular Function	Protein Binding	Serine-type Endopeptidase Inhibitor Activity Protein Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength
	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	Endoplasmic Reticulum To Golgi Vesicle-mediated Transport Cell Adhesion Epidermis Development Negative Regulation Of Endopeptidase Activity Extracellular Matrix Organization Endodermal Cell Differentiation COPII Vesicle Coating
Pathways		Trafficking of myristoylated proteins to the cilium	Collagen degradation Collagen degradation Extracellular matrix organization Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures COPII-mediated vesicle transport Integrin cell surface interactions Anchoring fibril formation Laminin interactions Laminin interactions Cargo concentration in the ER Collagen chain trimerization
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	Transient bullous dermolysis of the newborn Epidermolysis bullosa, dysprophic, including: ; Epidermolysis bullosa dystrophica, AD; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; Epidermolysis bullosa, pretibial
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)	Age at first sexual intercourse ( 27089180) Apolipoprotein A1 levels ( 32203549) Blood protein levels ( 29875488) Bone fracture in osteoporosis ( 28580392) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Crohn's disease ( 28067908) Inflammatory bowel disease ( 28067908) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Ulcerative colitis ( 28067908)
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1	15 interacting genes: BMP1 COL1A1 COL4A1 FBXL2 FN1 HSPA8 LAMA1 LAMA5 LAMB3 LAMC2 MIA3 MMP2 SHKBP1 THBS1 ZC3H7A
Entrez ID		27031	1294
HPRD ID		06417	00358
Ensembl ID		ENSG00000113971	ENSG00000114270
Uniprot IDs		Q7Z494	Q02388 Q59F16
PDB IDs		5L7K
Enriched GO Terms of Interacting Partners?
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