Collagen, type XVIII, alpha 1 explained

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

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.^[2]

See also

Collagen

Further reading

• Pufe T, Kurz B, Petersen W . The influence of biomechanical parameters on the expression of VEGF and endostatin in the bone and joint system. . Ann. Anat. . 187 . 5–6 . 461–72 . 2006 . 16320826 . 10.1016/j.aanat.2005.06.008 . etal.
• Oh SP, Kamagata Y, Muragaki Y . Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins. . Proc. Natl. Acad. Sci. U.S.A. . 91 . 10 . 4229–33 . 1994 . 8183893 . 43758 . 10.1073/pnas.91.10.4229 . 1994PNAS...91.4229O . etal. free .
• Sertié AL, Quimby M, Moreira ES . A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. . Hum. Mol. Genet. . 5 . 6 . 843–7 . 1996 . 8776601 . 10.1093/hmg/5.6.843 . etal. free .
• O'Reilly MS, Boehm T, Shing Y . Endostatin: an endogenous inhibitor of angiogenesis and tumor growth. . Cell . 88 . 2 . 277–85 . 1997 . 9008168 . 10.1016/S0092-8674(00)81848-6 . 14851562 . etal. free .
• Saarela J, Ylikärppä R, Rehn M . Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts. . Matrix Biol. . 16 . 6 . 319–28 . 1998 . 9503365 . 10.1016/S0945-053X(98)90003-8 . etal.
• Ding YH, Javaherian K, Lo KM . Zinc-dependent dimers observed in crystals of human endostatin. . Proc. Natl. Acad. Sci. U.S.A. . 95 . 18 . 10443–8 . 1998 . 9724722 . 27913 . 10.1073/pnas.95.18.10443 . 1998PNAS...9510443D . etal. free .
• Sasaki T, Göhring W, Miosge N . Tropoelastin binding to fibulins, nidogen-2 and other extracellular matrix proteins. . FEBS Lett. . 460 . 2 . 280–4 . 1999 . 10544250 . 10.1016/S0014-5793(99)01362-9. 25139630 . etal. free .
• Felbor U, Dreier L, Bryant RA . Secreted cathepsin L generates endostatin from collagen XVIII. . EMBO J. . 19 . 6 . 1187–94 . 2000 . 10716919 . 305660 . 10.1093/emboj/19.6.1187 . etal.
• Hattori M, Fujiyama A, Taylor TD . The DNA sequence of human chromosome 21. . Nature . 405 . 6784 . 311–9 . 2000 . 10830953 . 10.1038/35012518 . 2000Natur.405..311H . etal. free .
• Sertié AL, Sossi V, Camargo AA . 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). . Hum. Mol. Genet. . 9 . 13 . 2051–8 . 2000 . 10942434 . 10.1093/hmg/9.13.2051 . etal. free .
• Rehn M, Veikkola T, Kukk-Valdre E . Interaction of endostatin with integrins implicated in angiogenesis. . Proc. Natl. Acad. Sci. U.S.A. . 98 . 3 . 1024–9 . 2001 . 11158588 . 14702 . 10.1073/pnas.031564998 . etal. free .
• Karumanchi SA, Jha V, Ramchandran R . Cell surface glypicans are low-affinity endostatin receptors. . Mol. Cell . 7 . 4 . 811–22 . 2001 . 11336704 . 10.1016/S1097-2765(01)00225-8 . 43358048 . etal.
• Feng Y, Cui LB, Liu CX, Ma QJ . [Inhibition effect in vitro of purified endostatin expressed in Pichia pastoris] . Sheng Wu Gong Cheng Xue Bao . 17 . 3 . 278–82 . 2001 . 11517600 .
• Iughetti P, Suzuki O, Godoi PH . A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma. . Cancer Res. . 61 . 20 . 7375–8 . 2001 . 11606364 . etal.
• Wu P, Yonekura H, Li H . Hypoxia down-regulates endostatin production by human microvascular endothelial cells and pericytes. . Biochem. Biophys. Res. Commun. . 288 . 5 . 1149–54 . 2001 . 11700031 . 10.1006/bbrc.2001.5903 . etal.
• Zorick TS, Mustacchi Z, Bando SY . High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours. . Eur. J. Hum. Genet. . 9 . 11 . 811–4 . 2002 . 11781696 . 10.1038/sj.ejhg.5200721 . etal. free .
• Hanai J, Dhanabal M, Karumanchi SA . Endostatin causes G1 arrest of endothelial cells through inhibition of cyclin D1. . J. Biol. Chem. . 277 . 19 . 16464–9 . 2002 . 11815623 . 10.1074/jbc.M112274200 . etal. free .
• Ergün S, Kilic N, Wurmbach JH . Endostatin inhibits angiogenesis by stabilization of newly formed endothelial tubes. . Angiogenesis . 4 . 3 . 193–206 . 2002 . 11911017 . 10.1023/A:1014027218980 . 28608175 . etal.
• Tomono Y, Naito I, Ando K . Epitope-defined monoclonal antibodies against multiplexin collagens demonstrate that type XV and XVIII collagens are expressed in specialized basement membranes. . Cell Struct. Funct. . 27 . 1 . 9–20 . 2002 . 11937714 . 10.1247/csf.27.9 . etal. free .

Notes and References

1. Oh SP, Warman ML, Seldin MF, Cheng SD, Knoll JH, Timmons S, Olsen BR . Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21 . Genomics . 19 . 3 . 494–9 . Jun 1994 . 8188291 . 10.1006/geno.1994.1098 .
2. Web site: Entrez Gene: COL18A1 collagen, type XVIII, alpha 1.