Collagen, type XVIII, alpha 1

Collagen alpha-1(XVIII) chain is a protein that in humans is encoded by the COL18A1 gene.^[5]

PDBOrtholog search: PDBe RCSB

AliasesCOL18A1, KNO, KNO1, KS, Collagen, type XVIII, alpha 1, collagen type XVIII alpha 1, collagen type XVIII alpha 1 chain, GLCC

External IDsOMIM: 120328; MGI: 88451; HomoloGene: 7673; GeneCards: COL18A1; OMA:COL18A1 - orthologs

Chr.Chromosome 21 (human)^[1]

Quick facts COL18A1, Available structures ...

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)[1] Band 21q22.3 Start 45,405,165 bp[1] End 45,513,720 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 C1|10 39.72 cM Start 76,888,012 bp[2] End 77,002,382 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 80781 12822 Ensembl ENSG00000182871 ENSMUSG00000001435 UniProt P39060 P39061 RefSeq (mRNA) NM_130445 NM_030582 NM_130444 NM_001379500 NM_001109991 NM_009929 RefSeq (protein) NP_085059 NP_569711 NP_569712 NP_001366429 NP_001103461 NP_034059 NP_001393179 NP_001393180 NP_001393181 NP_001393182 NP_001393183 NP_001393184 Location (UCSC) Chr 21: 45.41 – 45.51 Mb Chr 10: 76.89 – 77 Mb PubMed search [3] [4]
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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.^[6]