Collagen, Type XVIII, Alpha 1

Identifiers Symbols COL18A1; KNO; KNO1; KS External IDs OMIM: 120328 MGI: 88451 HomoloGene: 7673 GeneCards: COL18A1 Gene

Gene Ontology
Molecular function structural molecule activity
protein binding
identical protein binding
metal ion binding
Cellular component extracellular region
collagen
basement membrane
extracellular space
endoplasmic reticulum lumen
extracellular matrix
Biological process angiogenesis
endothelial cell morphogenesis
cell adhesion
visual perception
positive regulation of cell proliferation
negative regulation of cell proliferation
organ morphogenesis
extracellular matrix organization
positive regulation of cell migration
response to drug
positive regulation of apoptotic process
response to hydrostatic pressure
Sources: Amigo / QuickGO
RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 80781 12822 Ensembl ENSG00000182871 ENSMUSG00000001435 UniProt P39060 P39061 RefSeq (mRNA) NM_030582 NM_001109991 RefSeq (protein) NP_085059 NP_001103461 Location (UCSC) Chr 21:
46.83 – 46.93 Mb Chr 10:
77.05 – 77.17 Mb PubMed search

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

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.

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