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
External IDs	OMIM: 120328 MGI: 88451 HomoloGene: 7673 GeneCards: COL18A1
Gene location (Human)
Chr.	Chromosome 21 (human)[1]
End	45,513,720 bp[1]
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)[2]
End	77,166,548 bp[2]
RNA expression pattern
	; ;
	More reference expression data
Gene ontology
Molecular function	• structural molecule activity; • metal ion binding; • GO:0001948 protein binding; • identical protein binding; • extracellular matrix structural constituent; • extracellular matrix structural constituent conferring tensile strength;
Cellular component	• collagen; • endoplasmic reticulum lumen; • extracellular matrix; • proteinaceous extracellular matrix; • basement membrane; • extracellular exosome; • extracellular; • 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 proliferation; • animal organ morphogenesis; • collagen catabolic process; • response to drug; • visual perception; • negative regulation of cell proliferation;
	Sources:Amigo / QuickGO
Orthologs
	80781
	12822
	ENSG00000182871
	ENSMUSG00000001435
	P39060
	P39061
	NM_130445; NM_030582; NM_130444
	NM_001109991; NM_009929
	NP_085059; NP_569711; NP_569712
	NP_001103461; NP_034059
	Wikidata
View/Edit Human	View/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]

References

GRCh38: Ensembl release 89: ENSG00000182871 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000001435 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"Entrez Gene: COL18A1 collagen, type XVIII, alpha 1".

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" (PDF). 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.

External links

Overview of all the structural information available in the PDB for UniProt: P39060 (Human Collagen alpha-1(XVIII) chain) at the PDBe-KB.
Overview of all the structural information available in the PDB for UniProt: P39061 (Mouse Collagen alpha-1(XVIII) chain) at the PDBe-KB.

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

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000182871 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000001435 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8188291-5] 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".

Collagen, type XVIII, alpha 1

See also

References

Further reading

External links