COL18A1

Description		collagen type XVIII alpha 1 chain
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GO Annotations	Cellular Component	Extracellular Region Collagen Trimer Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Collagen-containing Extracellular Matrix Extracellular Exosome
	Molecular Function	Extracellular Matrix Structural Constituent Extracellular Matrix Structural Constituent Conferring Tensile Strength Metal Ion Binding
	Biological Process	Angiogenesis Endothelial Cell Morphogenesis Cell Adhesion Visual Perception Negative Regulation Of Cell Population Proliferation Animal Organ Morphogenesis Extracellular Matrix Organization Response To Drug Response To Hydrostatic Pressure
Pathways		Collagen degradation Activation of Matrix Metalloproteinases Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Laminin interactions Collagen chain trimerization
Drugs
Diseases		Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC) Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
GWAS		Ankle injury ( 28957384) Apolipoprotein A1 levels ( 32203549) Blood protein levels ( 30072576 29875488) Bone mineral density (total hip) ( 29883787) Brain morphology (MOSTest) ( 32665545) Cardiorespiratory fitness (800m run time) ( 32572135) Early-onset Parkinson's disease ( 28256260) HDL cholesterol levels ( 32203549) Hippocampal atrophy ( 22745009) Platelet distribution width ( 32888494) Pursuit maintenance gain ( 29064472) Total cholesterol levels ( 30275531) Triglycerides ( 24507774 30275531)
Novel Interacting Genes		1 novel interacting genes: PTEN
Interacting Genes		8 interacting genes: CTSL FBLN2 GPC1 GPC4 HNRNPD ITGA5 KDR MMP2
Entrez ID		80781
HPRD ID		00382
Ensembl ID		ENSG00000182871
Uniprot IDs		D3DSM4 D3DSM5 P39060
PDB IDs		1BNL 3HON 3HSH
Enriched GO Terms of Interacting Partners?
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