Collagen, type XVIII, alpha 1

COL18A1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1BNL, 3HON, 3HSH
Identifiers
Aliases	COL18A1, KNO, KNO1, KS, Collagen, type XVIII, alpha 1, collagen type XVIII alpha 1, collagen type XVIII alpha 1 chain, GLCC
External IDs	OMIM: 120328; MGI: 88451; HomoloGene: 7673; GeneCards: COL18A1; OMA:COL18A1 - orthologs
Gene location (Human)
Chr.	Chromosome 21 (human)
End	45,513,720 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	77,002,382 bp
RNA expression pattern
	Top expressed in
	right coronary artery; ; popliteal artery; ; tibial arteries; ; Descending thoracic aorta; ; right lobe of liver; ; ascending aorta; ; canal of the cervix; ; left ovary; ; right ovary; ; left coronary artery;
	Top expressed in
	tunica media of zone of aorta; ; left lobe of liver; ; ascending aorta; ; Gonadal ridge; ; gallbladder; ; external carotid artery; ; internal carotid artery; ; ciliary body; ; medullary collecting duct; ; semi-lunar valve;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	structural molecule activity; metal ion binding; protein binding; identical protein binding; extracellular matrix structural constituent; extracellular matrix structural constituent conferring tensile strength;
Cellular component	collagen; endoplasmic reticulum lumen; extracellular matrix; basement membrane; extracellular exosome; extracellular space; extracellular region; collagen-containing extracellular matrix;
Biological process	positive regulation of cell migration; endothelial cell morphogenesis; response to hydrostatic pressure; extracellular matrix organization; positive regulation of endothelial cell apoptotic process; cell adhesion; angiogenesis; positive regulation of cell population proliferation; animal organ morphogenesis; collagen catabolic process; visual perception; negative regulation of cell population proliferation;
	Sources:Amigo / QuickGO
Orthologs
	80781
	12822
	ENSG00000182871
	ENSMUSG00000001435
	P39060
	P39061
	NM_130445; NM_030582; NM_130444; NM_001379500
	NM_001109991; NM_009929
	NP_085059; NP_569711; NP_569712; NP_001366429
NP_001103461; NP_034059; NP_001393179; NP_001393180; NP_001393181;
	NP_001393182; NP_001393183; NP_001393184
	Wikidata
View/Edit Human	View/Edit Mouse

Collagen alpha-1(XVIII) chain is a protein that in humans is encoded by the COL18A1 gene.

This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Two transcript variants encoding different isoforms have been found for this gene.