COL18A1

COL18A1 (Collagen Type XVIII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL18A1 include Knobloch Syndrome 1 and Knobloch Syndrome. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is COL15A1.

Collagen Type XVIII Alpha 1 Chain

Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.

Non-collagenous domain 1:
May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling.

Endostatin:
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).

Angiogenesis Source: GO_Central
Animal organ morphogenesis Source: ProtInc
Cell adhesion Source: UniProtKB-KW
Collagen fibril organization Source: Reactome
Endothelial cell morphogenesis Source: GO_Central
Extracellular matrix organization Source: GO_Central
Negative regulation of cell population proliferation Source: ProtInc
Response to drug Source: Ensembl
Response to hydrostatic pressure Source: Ensembl
Visual perception Source: ProtInc

Extracellular matrix; Basement membrane
Non-collagenous domain 1: Basement membrane; Secreted
Endostatin: Basement membrane; Secreted

Knobloch syndrome 1 (KNO1):
A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia.
Glaucoma, primary closed-angle (GLCC):
An autosomal dominant form of primary glaucoma, an ocular disease characterized by a marked increase of intraocular pressure causing damage to eye structures and function. GLCC is characterized by elevated intraocular pressure due to iridocorneal angle closure with retention of the aqueous humor in the anterior chamber. Iridocorneal angle changes are apparent in the fourth to fifth decade of life, and patients manifest age-related variation in the severity of glaucomatous damage.

Prolines at the third position of the tripeptide repeating unit (G-X-Y) of the triple-helical regions are hydroxylated.
Circulating endostatins are found as sialoglycoprotein and asialoglycoprotein structures.
Undergoes proteolytic processing by CTSL/cathepsin-L and elastase-like proteases to generate both non-collagenous domain 1 trimers and endostatin monomers (PubMed:10626789). In tissue extracts (brain, skeletal muscle, heart, kidney, testis and liver) predominantly bands of approximately 38 kDa are detected; recombinant non-collagenous domain 1 shows similar mobility. In vitro, several proteolytic cleavage sites in the non-collagenous domain 1 hinge region generating different endostatin-like peptides are reported (By similarity).