COL18A1

Description		collagen type XVIII alpha 1 chain
Image
GO Annotations	Cellular Component	Extracellular Region Collagen Trimer Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Extracellular Exosome
	Molecular Function	Protein Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength Identical Protein Binding Metal Ion Binding
	Biological Process	Skeletal System Development Angiogenesis Endothelial Cell Morphogenesis Cell Adhesion Visual Perception Negative Regulation Of Cell Population Proliferation Response To Xenobiotic Stimulus Anatomical Structure Morphogenesis Animal Organ Morphogenesis Regulation Of Cell Population Proliferation 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) 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) Left–right brain asymmetry ( 33723403) 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		19 interacting genes: APP BGN COL1A1 COL4A1 COL6A1 CTSL FBLN2 GPC1 GPC4 HNRNPD ITGA5 ITGAV ITGB1 KDR LAMA1 MMP2 SPARC TGM2 THBS1
Entrez ID		80781
HPRD ID		00382
Ensembl ID		ENSG00000182871
Uniprot IDs		A0AAG2UW65 A0AAG2UXZ5 P39060
PDB IDs		1BNL 3HON 3HSH
Enriched GO Terms of Interacting Partners?		Extracellular Matrix Extracellular Region Extracellular Matrix Structural Constituent Extracellular Matrix Binding Fibronectin Binding Cell Surface Regulation Of Cell Migration Regulation Of Cell Motility Regulation Of Locomotion Positive Regulation Of Cell Migration Positive Regulation Of Cell Motility Regulation Of Cell Adhesion Anatomical Structure Formation Involved In Morphogenesis Anatomical Structure Morphogenesis Positive Regulation Of Locomotion Integrin Binding Developmental Process Cellular Response To Amino Acid Stimulus Angiogenesis Endodermal Cell Differentiation External Side Of Plasma Membrane Regulation Of Cell-substrate Adhesion Response To Amino Acid Cellular Developmental Process Platelet-derived Growth Factor Binding Cell Migration Extracellular Matrix Organization Extracellular Structure Organization Positive Regulation Of Signal Transduction Coreceptor Activity Wound Healing, Spreading Of Epidermal Cells Collagen Metabolic Process Positive Regulation Of Cell Communication Positive Regulation Of Signaling Cell Motility Animal Organ Development Platelet Alpha Granule Integrin Alpha5-beta1 Complex Integrin Alphav-beta1 Complex Regulation Of Angiogenesis Laminin Binding Regulation Of Vasculature Development Positive Regulation Of Angiogenesis Positive Regulation Of Vasculature Development Response To Activity Fibroblast Growth Factor Binding Regulation Of Developmental Process Response To Mechanical Stimulus Cell Adhesion Cell Surface Receptor Signaling Pathway
Tagcloud ?