COL7A1 and NPHP3

		COL7A1	NPHP3
Description		collagen type VII alpha 1 chain	nephrocystin 3
Image		No pdb structure
GO Annotations	Cellular Component	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	Cell Adhesion Epidermis Development Negative Regulation Of Endopeptidase Activity Endodermal Cell Differentiation	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
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) Serum alkaline phosphatase levels ( 33547301) Subcortical volume (MOSTest) ( 32665545)
Interacting Genes		16 interacting genes: BMP1 COL1A1 COL4A1 FBXL2 FN1 HSPA8 LAMA1 LAMA5 LAMB3 LAMC2 MIA3 MMP2 NPHP3 SHKBP1 THBS1 ZC3H7A	18 interacting genes: ANAPC13 ASTE1 ATXN1 CCDC50 CDV3 COL7A1 DDX3Y DNAJC13 DPP7 DYSF EPC1 NAA50 NPHP1 PARP14 PIK3R4 PPP2R3A RAB6B TOPBP1
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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