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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| collagen type XVIII alpha 1 chain | MIM:120328 | Ensembl:ENSG00000182871 | HGNC:HGNC:2195 | PA26711 | 21q22.3 |
GO terms in COL18A1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005201 | extracellular matrix structural constituent |
| MF | HDA | GO:0030020 | extracellular matrix structural constituent conferring tensile strength |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | IEA | GO:0001525 | angiogenesis |
| BP | IEA | GO:0001886 | endothelial cell morphogenesis |
| BP | IEA | GO:0007155 | cell adhesion |
| BP | TAS | GO:0007601 | visual perception |
| BP | IEA | GO:0008284 | positive regulation of cell proliferation |
| BP | TAS | GO:0008285 | negative regulation of cell proliferation |
| BP | TAS | GO:0009887 | animal organ morphogenesis |
| BP | IBA | GO:0030198 | extracellular matrix organization |
| BP | TAS | GO:0030198 | extracellular matrix organization |
| BP | IEA | GO:0030335 | positive regulation of cell migration |
| BP | IEA | GO:0042493 | response to drug |
| BP | IEA | GO:0051599 | response to hydrostatic pressure |
| BP | IEA | GO:2000353 | positive regulation of endothelial cell apoptotic process |
| CC | HDA | GO:0005576 | extracellular region |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IEA | GO:0005581 | collagen trimer |
| CC | IEA | GO:0005604 | basement membrane |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IBA | GO:0005615 | extracellular space |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
| CC | HDA | GO:0031012 | extracellular matrix |
| CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
| CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
| CC | TAS | GO:0062023 | collagen-containing extracellular matrix |
| CC | HDA | GO:0070062 | extracellular exosome |
Gene expression in normal tissue: COL18A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in COL18A1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1442490 | Collagen degradation |
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474290 | Collagen formation |
| reactome | R-HSA-1592389 | Activation of Matrix Metalloproteinases |
| reactome | R-HSA-1650814 | Collagen biosynthesis and modifying enzymes |
| reactome | R-HSA-2022090 | Assembly of collagen fibrils and other multimeric structures |
| reactome | R-HSA-216083 | Integrin cell surface interactions |
| reactome | R-HSA-3000157 | Laminin interactions |
| reactome | R-HSA-8948216 | Collagen chain trimerization |
| kegg | hsa04974 | Protein digestion and absorption - Homo sapiens (human) |
| pid | era_genomic_pathway | Validated nuclear estrogen receptor alpha network |
| pid | hnf3apathway | FOXA1 transcription factor network |
| pid | integrin1_pathway | Beta1 integrin cell surface interactions |
| pid | p53downstreampathway | Direct p53 effectors |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD414 | MST-312 | 4 |
| iGMDRD871 | BRD6368 | 7 |
| iGMDRD888 | Compound 44 | 4 |
| iGMDRD64 | Parbendazole | 2 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD289 | Parthenolide | 4 |
| iGMDRD152 | 179324-69-7 | 3 |
| iGMDRD61 | Kinetin riboside | 7 |
| iGMDRD499 | PDMP | 6 |
| iGMDRD280 | CYTOCHALASIN B | 2 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD945 | ML214 | 5 |
| iGMDRD307 | Manumycin A | 2 |
| iGMDRD76 | Simvastatin | 1 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD116 | CD437 | 5 |
| iGMDRD405 | PIK-75 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in COL18A1
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