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COL18A1
COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. Defects in COL18A1 are a cause of Knobloch syndrome type 1 (KNO1). An autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele. Belongs to the multiplexin collagen family. 3 isoforms of the human protein are produced by alternative promoter. Note: This description may include information from UniProtKB.
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| Protein type: Secreted, signal peptide; Secreted |
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Cellular Component: extracellular matrix; extracellular space; collagen; endoplasmic reticulum lumen; extracellular region; basement membrane
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Molecular Function: identical protein binding; protein binding; metal ion binding; structural molecule activity
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Biological Process: response to drug; negative regulation of cell proliferation; organ morphogenesis; extracellular matrix organization and biogenesis; visual perception; positive regulation of apoptosis; positive regulation of cell proliferation; angiogenesis; endothelial cell morphogenesis; cell adhesion; response to hydrostatic pressure; positive regulation of cell migration
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Reference #:
P39060 (UniProtKB)
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| Alt. Names/Synonyms: antiangiogenic agent; COIA1; COL18A1; Collagen alpha-1(XVIII) chain; collagen, type XVIII, alpha 1; Endostatin; FLJ27325; FLJ34914; KNO; KNO1; MGC74745; multi-functional protein MFP |
| Gene Symbols: COL18A1 |
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Molecular weight: 178,188 Da
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Basal Isoelectric point: 5.67
Predict pI for various phosphorylation states
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