Hmdb loader
Survey
You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Identification
HMDB Protein ID HMDBP13479
Secondary Accession Numbers None
Name Collagen alpha-1(XVIII) chain
Synonyms Not Available
Gene Name COL18A1
Protein Type Unknown
Biological Properties
General Function Not Available
Specific Function Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling.Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123).
Pathways
  • Protein digestion and absorption
Reactions Not Available
GO Classification
Biological Process
organ morphogenesis
extracellular matrix organization
cell adhesion
response to drug
angiogenesis
endothelial cell morphogenesis
visual perception
collagen fibril organization
negative regulation of cell proliferation
response to hydrostatic pressure
Cellular Component
extracellular vesicular exosome
endoplasmic reticulum lumen
basement membrane
extracellular region
collagen
collagen-containing extracellular matrix
extracellular space
extracellular matrix
Molecular Function
metal ion binding
extracellular matrix structural constituent
identical protein binding
Cellular Location Not Available
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs Not Available
Gene Sequence Not Available
Protein Properties
Number of Residues 1754
Molecular Weight 178186.435
Theoretical pI 6.012
Pfam Domain Function
Signals
  • 1-23;
Transmembrane Regions Not Available
Protein Sequence Not Available
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID P39060
UniProtKB/Swiss-Prot Entry Name COIA1_HUMAN
PDB IDs
GenBank Gene ID Not Available
GeneCard ID Not Available
GenAtlas ID Not Available
HGNC ID Not Available
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML: The DNA sequence of human chromosome 21. Nature. 2000 May 18;405(6784):311-9. [PubMed:10830953 ]
  3. Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S, Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T, Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature. 2008 Nov 6;456(7218):66-72. doi: 10.1038/nature07485. [PubMed:18987736 ]
  4. Saarela J, Ylikarppa R, Rehn M, Purmonen S, Pihlajaniemi T: 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. 1998 Jan;16(6):319-28. [PubMed:9503365 ]
  5. Elamaa H, Snellman A, Rehn M, Autio-Harmainen H, Pihlajaniemi T: Characterization of the human type XVIII collagen gene and proteolytic processing and tissue location of the variant containing a frizzled motif. Matrix Biol. 2003 Sep;22(5):427-42. [PubMed:14614989 ]
  6. 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. 1994 Feb;19(3):494-9. [PubMed:8188291 ]
  7. 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. 2001 May;17(3):278-82. [PubMed:11517600 ]
  8. Ding YH, Javaherian K, Lo KM, Chopra R, Boehm T, Lanciotti J, Harris BA, Li Y, Shapiro R, Hohenester E, Timpl R, Folkman J, Wiley DC: Zinc-dependent dimers observed in crystals of human endostatin. Proc Natl Acad Sci U S A. 1998 Sep 1;95(18):10443-8. [PubMed:9724722 ]
  9. Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR: 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. 2000 Aug 12;9(13):2051-8. [PubMed:10942434 ]
  10. Iughetti P, Suzuki O, Godoi PH, Alves VA, Sertie AL, Zorick T, Soares F, Camargo A, Moreira ES, di Loreto C, Moreira-Filho CA, Simpson A, Oliva G, Passos-Bueno MR: A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma. Cancer Res. 2001 Oct 15;61(20):7375-8. [PubMed:11606364 ]
  11. Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M: Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat. 2004 Jan;23(1):77-84. [PubMed:14695535 ]
  12. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [PubMed:24275569 ]
  13. Standker L, Schrader M, Kanse SM, Jurgens M, Forssmann WG, Preissner KT: Isolation and characterization of the circulating form of human endostatin. FEBS Lett. 1997 Dec 29;420(2-3):129-33. doi: 10.1016/s0014-5793(97)01503-2. [PubMed:9459295 ]
  14. John H, Preissner KT, Forssmann WG, Standker L: Novel glycosylated forms of human plasma endostatin and circulating endostatin-related fragments of collagen XV. Biochemistry. 1999 Aug 10;38(32):10217-24. doi: 10.1021/bi990787+. [PubMed:10441114 ]
  15. Wen W, Moses MA, Wiederschain D, Arbiser JL, Folkman J: The generation of endostatin is mediated by elastase. Cancer Res. 1999 Dec 15;59(24):6052-6. [PubMed:10626789 ]
  16. Kuo CJ, LaMontagne KR Jr, Garcia-Cardena G, Ackley BD, Kalman D, Park S, Christofferson R, Kamihara J, Ding YH, Lo KM, Gillies S, Folkman J, Mulligan RC, Javaherian K: Oligomerization-dependent regulation of motility and morphogenesis by the collagen XVIII NC1/endostatin domain. J Cell Biol. 2001 Mar 19;152(6):1233-46. doi: 10.1083/jcb.152.6.1233. [PubMed:11257123 ]
  17. Ling Y, Yang Y, Lu N, You QD, Wang S, Gao Y, Chen Y, Guo QL: Endostar, a novel recombinant human endostatin, exerts antiangiogenic effect via blocking VEGF-induced tyrosine phosphorylation of KDR/Flk-1 of endothelial cells. Biochem Biophys Res Commun. 2007 Sep 14;361(1):79-84. doi: 10.1016/j.bbrc.2007.06.155. Epub 2007 Jul 10. [PubMed:17644065 ]
  18. Aldahmesh MA, Khan AO, Mohamed JY, Levin AV, Wuthisiri W, Lynch S, McCreery K, Alkuraya FS: No evidence for locus heterogeneity in Knobloch syndrome. J Med Genet. 2013 Aug;50(8):565-6. doi: 10.1136/jmedgenet-2013-101755. Epub 2013 May 10. [PubMed:23667181 ]
  19. Suri F, Yazdani S, Chapi M, Safari I, Rasooli P, Daftarian N, Jafarinasab MR, Ghasemi Firouzabadi S, Alehabib E, Darvish H, Klotzle B, Fan JB, Turk C, Elahi E: COL18A1 is a candidate eye iridocorneal angle-closure gene in humans. Hum Mol Genet. 2018 Nov 1;27(21):3772-3786. doi: 10.1093/hmg/ddy256. [PubMed:30007336 ]