COL4A1

Description		collagen type IV alpha 1 chain
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GO Annotations	Cellular Component	Extracellular Region Collagen Trimer Collagen Type IV Trimer Basement Membrane Endoplasmic Reticulum Lumen Extracellular Matrix
	Molecular Function	Extracellular Matrix Structural Constituent Protein Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength Platelet-derived Growth Factor Binding
	Biological Process	Angiogenesis Branching Involved In Blood Vessel Morphogenesis Brain Development Neuromuscular Junction Development Epithelial Cell Differentiation Collagen-activated Tyrosine Kinase Receptor Signaling Pathway Blood Vessel Morphogenesis Retinal Blood Vessel Morphogenesis Renal Tubule Morphogenesis Cellular Response To Amino Acid Stimulus Basement Membrane Organization
Pathways		Collagen degradation Collagen degradation Fibronectin matrix formation Collagen biosynthesis and modifying enzymes Signaling by PDGF Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Integrin cell surface interactions Anchoring fibril formation Crosslinking of collagen fibrils Laminin interactions Laminin interactions Non-integrin membrane-ECM interactions ECM proteoglycans Scavenging by Class A Receptors NCAM1 interactions Collagen chain trimerization Attachment of bacteria to epithelial cells
Drugs
Diseases		Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) Brain small vessel disease with Axenfeld-Rieger anomaly Porencephaly
GWAS		Age-related nuclear cataracts ( 24951543) Arterial stiffness ( 20031579) Behavioral disturbance or psychiatric symptoms and prion disease ( 25897833) Coronary artery disease ( 32469254 33020668 24262325 26343387 29212778) Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) ( 28714975) Coronary heart disease ( 21378990) Diastolic blood pressure response to thiazide and thiazide-like diuretics in hypertension ( 31754133) Estimated glomerular filtration rate after 1 year in renal transplantation (donor effect) ( 30920136) Hip circumference adjusted for BMI ( 34021172) Hip index ( 34021172) Intraocular pressure ( 31959993 29785010) Lateral ventricle volume ( 31530798) Liver enzyme levels (gamma-glutamyl transferase) ( 33972514) Lymphocyte count ( 32888494) Mean platelet volume ( 32888494) Metabolite levels ( 23823483) Monocyte count ( 32888494 27863252) Myocardial infarction ( 33532862 26343387) Night sleep phenotypes ( 27126917) Non-lobar intracerebral hemorrhage (MTAG) ( 31430377) Obesity-related traits ( 23251661) Peripheral artery disease ( 31285632) Platelet count ( 32888494) Platelet distribution width ( 32888494) Plateletcrit ( 32888494) Pulse pressure ( 30578418) Stroke ( 30383316) Vertical cup-disc ratio (adjusted for vertical disc diameter) ( 31959993) Vertical cup-disc ratio (multi-trait analysis) ( 31959993) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 28552196 34021172)
Novel Interacting Genes		31 novel interacting genes: ACHE APCS APP BGN BMP3 CD93 COL18A1 COL4A2 COL7A1 CXCR4 DCN DISC1 FBLN2 FN1 HABP2 MAG MATN2 MMP9 NID1 NID2 OSM PDGFA PDGFB SAA1 SAA2 SAA4 SERPINE2 SMAD1 TGFBI TGM2 THBS1
Interacting Genes		31 interacting genes: ACHE APCS APP BGN BMP3 CD93 COL18A1 COL4A2 COL7A1 CXCR4 DCN DISC1 FBLN2 FN1 HABP2 MAG MATN2 MMP9 NID1 NID2 OSM PDGFA PDGFB SAA1 SAA2 SAA4 SERPINE2 SMAD1 TGFBI TGM2 THBS1
Entrez ID		1282
HPRD ID		00359
Ensembl ID		ENSG00000187498
Uniprot IDs		A5PKV2 P02462
PDB IDs		1LI1 5NAX 5NAY 6MPX
Enriched GO Terms of Interacting Partners?		Extracellular Region Extracellular Matrix Basement Membrane Collagen Binding Extracellular Matrix Structural Constituent Extracellular Space Extracellular Matrix Binding Acute-phase Response Extracellular Exosome Cell Adhesion Endoplasmic Reticulum Lumen Regulation Of Multicellular Organismal Process Regulation Of Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Angiogenesis High-density Lipoprotein Particle Positive Regulation Of Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Glycosaminoglycan Binding Regulation Of Cell Adhesion Acute Inflammatory Response Platelet Alpha Granule Lumen Regulation Of Developmental Process Extracellular Matrix Organization Extracellular Structure Organization Developmental Process Endodermal Cell Differentiation Calcium Ion Binding Golgi Lumen Anatomical Structure Formation Involved In Morphogenesis Regulation Of Cell Differentiation Positive Regulation Of Developmental Process Proteoglycan Binding Response To Wounding Regulation Of Cell-substrate Adhesion Positive Regulation Of Multicellular Organismal Process Positive Regulation Of Neurogenesis Regulation Of Multicellular Organismal Development Positive Regulation Of Cell-substrate Adhesion Platelet-derived Growth Factor Complex Negative Regulation Of Phosphatidylinositol Biosynthetic Process Negative Regulation Of Multicellular Organismal Process Inflammatory Response Negative Regulation Of Platelet Activation Regulation Of Wound Healing Platelet Alpha Granule Positive Regulation Of Cell Communication Positive Regulation Of Signaling Laminin Binding Negative Regulation Of Wound Healing Bone Development Positive Regulation Of Nervous System Development
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