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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]
COL18A1 (Collagen Type XVIII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL18A1 include Knobloch Syndrome 1 and Glaucoma, Primary Closed-Angle. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is COL15A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | IBA | 21873635 |
GO:0005515 | protein binding | IEA | -- |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 20551380 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005581 | collagen trimer | TAS,IEA | -- |
GO:0005604 | basement membrane | IEA | -- |
GO:0005615 | extracellular space | IEA,IBA | 21873635 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
|
|
2 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Degradation of the extracellular matrix | ||
5 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IEA,IBA | 21873635 |
GO:0001886 | endothelial cell morphogenesis | IEA,IBA | 21873635 |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007601 | visual perception | TAS | 10942434 |
GO:0008284 | positive regulation of cell proliferation | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL18A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col18a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Col18a1 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL18A1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COL18A1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL18A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COL18A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COL18A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | col18a1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | COL18A1 (2 of 2) 31 |
|
OneToMany | |
col18a1 31 |
|
OneToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | mp 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | cle-1 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
666965 | Likely Pathogenic: Knobloch syndrome 1 | 45,507,585(+) | C/T | NONSENSE | |
684620 | Pathogenic: Knobloch syndrome 1 | 45,510,086(+) | GCC/G | FRAMESHIFT_VARIANT | |
721063 | Likely Benign: not provided | 45,477,475(+) | C/A | SYNONYMOUS_VARIANT | |
728124 | Benign: not provided | 45,477,494(+) | C/G | INTRON_VARIANT | |
769138 | Benign: not provided | 45,504,534(+) | CA/. | NO_SEQUENCE_ALTERATION |
Disorder | Aliases | PubMed IDs |
---|---|---|
knobloch syndrome 1 |
|
|
glaucoma, primary closed-angle |
|
|
inherited retinal disorder |
|
|
knobloch syndrome |
|
|
retinitis pigmentosa |
|