COL7A1 and NPHP3

Data Source:
BioGRID (affinity chromatography technology)

		COL7A1	NPHP3
Description		collagen type VII alpha 1 chain	nephrocystin 3
Image		No pdb structure
GO Annotations	Cellular Component	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	Extracellular Region Cytosol Cilium
	Molecular Function	Serine-type Endopeptidase Inhibitor Activity Protein Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength	Protein Binding
	Biological Process	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	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
Pathways		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	Trafficking of myristoylated proteins to the cilium
Drugs
Diseases		Transient bullous dermolysis of the newborn Epidermolysis bullosa, dysprophic, including: ; Epidermolysis bullosa dystrophica, AD; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; Epidermolysis bullosa, pretibial	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		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)	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)
Interacting Genes		15 interacting genes: BMP1 COL1A1 COL4A1 FBXL2 FN1 HSPA8 LAMA1 LAMA5 LAMB3 LAMC2 MIA3 MMP2 SHKBP1 THBS1 ZC3H7A	3 interacting genes: ATXN1 DYSF NPHP1
Entrez ID		1294	27031
HPRD ID		00358	06417
Ensembl ID		ENSG00000114270	ENSG00000113971
Uniprot IDs		Q02388 Q59F16	Q7Z494
PDB IDs			5L7K
Enriched GO Terms of Interacting Partners?
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