COL18A1
Collagen type XVIII, alpha 1 | ||
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Ribbon model of collagen type XVIII, alpha 1 according to PDB 1BNL | ||
other names |
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Properties of human protein | ||
Mass / length primary structure | 1,754 amino acids , 178,188 Da | |
Isoforms | 3 | |
Identifier | ||
Gene names | COL18A1; KNO1; KNO; KS | |
External IDs | ||
Occurrence | ||
Parent taxon | Euteleostomi | |
Orthologue | ||
human | House mouse | |
Entrez | 80781 | 12822 |
Ensemble | ENSG00000182871 | ENSMUSG00000001435 |
UniProt | P39060 | P39061 |
Refseq (mRNA) | NM_130445 | NM_001109991 |
Refseq (protein) | NP_085059.2 | NP_001103461.1 |
Gene locus | Chr 21: 45.41 - 45.51 Mb | Chr 10: 77.05 - 77.17 Mb |
PubMed search | 80781 |
12822
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Collagen type XVIII, alpha 1 is a collagen that the gene COL18A1 is encoded. It forms homotrimers , which in turn form collagen fibrils of type XVIII.
properties
Collagen XVIII plays an important role in maintaining the retinal structure and in closing the neural tube . An endogenous inhibitor is the C -terminal fragment that endostatin is, the angiogenesis inhibition and tumor growth by stimulating the endothelial proliferation and cell migration limiting and the apoptosis induced in endothelial cells. The endostatin is also able to inhibit the VEGF -induced phosphorylation of MAPK in chondrocytes . The angiogenic factor is important for the development and maintenance of avascular zones in connective tissue and connective tissue cartilage .
Mutations in the COL18A1 gene can lead to Knobloch syndrome type 1.
Web links
Individual evidence
- ↑ AL Sertié, V. Sossi, AA Camargo, M. Zatz, C. Brahe, MR Passos-Bueno: Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome) . In: Hum Mol Genet . 9, No. 13, August 12, 2000, pp. 2051-2058. PMID 10942434 .
- ↑ Lotta Seppinen, Taina Pihlajaniemi: The multiple functions of collagen XVIII in development and disease . In: Matrix Biol . 30, No. 2, March 2011, pp. 83-92. doi : 10.1016 / j.matbio.2010.11.001 . PMID 21163348 .
- ↑ Thomas Pufe, Wolf J. Petersen, Nicolai Miosge, Mary B. Goldring, Rolf Mentlein, Deike J. Varoga, Bernhard Tillmann : Endostatin / collagen XVIII - an inhibitor of angiogenesis - is expressed in cartilage and fibrocartilage . In: Matrix Biol . 23, No. 5, August 2004, pp. 267-276. doi : 10.1016 / j.matbio.2004.06.003 . PMID 15464359 .
- ↑ Lotta Seppinen, Taina Pihlajaniemi: The multiple functions of collagen XVIII in development and disease . In: Matrix Biol . 30, No. 2, March 2011, pp. 83-92. doi : 10.1016 / j.matbio.2010.11.001 . PMID 21163348 .