COL18A1


Summary: 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. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
collagen type XVIII alpha 1 chainMIM:120328Ensembl:ENSG00000182871HGNC:HGNC:2195PA2671121q22.3

GO terms in COL18A1


Term TypeEvidence TypeGO Term IDGO Des.
MFIBAGO:0005201extracellular matrix structural constituent
MFHDAGO:0030020extracellular matrix structural constituent conferring tensile strength
MFIEAGO:0046872metal ion binding
BPIEAGO:0001525angiogenesis
BPIEAGO:0001886endothelial cell morphogenesis
BPIEAGO:0007155cell adhesion
BPTASGO:0007601visual perception
BPIEAGO:0008284positive regulation of cell proliferation
BPTASGO:0008285negative regulation of cell proliferation
BPTASGO:0009887animal organ morphogenesis
BPIBAGO:0030198extracellular matrix organization
BPTASGO:0030198extracellular matrix organization
BPIEAGO:0030335positive regulation of cell migration
BPIEAGO:0042493response to drug
BPIEAGO:0051599response to hydrostatic pressure
BPIEAGO:2000353positive regulation of endothelial cell apoptotic process
CCHDAGO:0005576extracellular region
CCTASGO:0005576extracellular region
CCIEAGO:0005581collagen trimer
CCIEAGO:0005604basement membrane
CCHDAGO:0005615extracellular space
CCIBAGO:0005615extracellular space
CCTASGO:0005788endoplasmic reticulum lumen
CCHDAGO:0031012extracellular matrix
CCHDAGO:0062023collagen-containing extracellular matrix
CCHDAGO:0062023collagen-containing extracellular matrix
CCTASGO:0062023collagen-containing extracellular matrix
CCHDAGO:0070062extracellular exosome

Gene expression in normal tissue: COL18A1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in COL18A1


DatabasePathway IDPathway Des.
reactomeR-HSA-1442490Collagen degradation
reactomeR-HSA-1474228Degradation of the extracellular matrix
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-1474290Collagen formation
reactomeR-HSA-1592389Activation of Matrix Metalloproteinases
reactomeR-HSA-1650814Collagen biosynthesis and modifying enzymes
reactomeR-HSA-2022090Assembly of collagen fibrils and other multimeric structures
reactomeR-HSA-216083Integrin cell surface interactions
reactomeR-HSA-3000157Laminin interactions
reactomeR-HSA-8948216Collagen chain trimerization
kegghsa04974Protein digestion and absorption - Homo sapiens (human)
pidera_genomic_pathwayValidated nuclear estrogen receptor alpha network
pidhnf3apathwayFOXA1 transcription factor network
pidintegrin1_pathwayBeta1 integrin cell surface interactions
pidp53downstreampathwayDirect p53 effectors

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD414MST-3124
iGMDRD871BRD63687
iGMDRD888Compound 444
iGMDRD64Parbendazole2
iGMDRD23Gossypol3
iGMDRD121GMX17783
iGMDRD289Parthenolide4
iGMDRD152179324-69-73
iGMDRD61Kinetin riboside7
iGMDRD499PDMP6
iGMDRD280CYTOCHALASIN B2
iGMDRD297Austocystin D2
iGMDRD945ML2145
iGMDRD307Manumycin A2
iGMDRD76Simvastatin1
iGMDRD512nutlin 33
iGMDRD116CD4375
iGMDRD405PIK-751

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in COL18A1

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