Collagen, type XVIII, alpha 1

COL18A1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOL18A1, KNO, KNO1, KS, Collagen, type XVIII, alpha 1, collagen type XVIII alpha 1, collagen type XVIII alpha 1 chain
External IDsMGI: 88451 HomoloGene: 7673 GeneCards: COL18A1
Gene location (Human)
Chr.Chromosome 21 (human)[1]
Band21q22.3Start45,405,137 bp[1]
End45,513,720 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

80781

12822

Ensembl

ENSG00000182871

ENSMUSG00000001435

UniProt

P39060

P39061

RefSeq (mRNA)

NM_130445
NM_030582
NM_130444

NM_001109991
NM_009929

RefSeq (protein)

NP_085059
NP_569711
NP_569712

NP_001103461
NP_034059

Location (UCSC)Chr 21: 45.41 – 45.51 MbChr 10: 77.05 – 77.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

See also

Collagen

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000182871 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000001435 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Oh SP, Warman ML, Seldin MF, Cheng SD, Knoll JH, Timmons S, Olsen BR (Jun 1994). "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. doi:10.1006/geno.1994.1098. PMID 8188291.
  6. ↑ "Entrez Gene: COL18A1 collagen, type XVIII, alpha 1".

Further reading

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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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