MGP Database

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MGP006003

UniProt Annotations

Entry Information
Gene Namecollagen, type XVIII, alpha 1
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative promoter usage, Alternative splicing; Named isoforms=3; Name=1; Synonyms=NC1-728; IsoId=P39060-3; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; Synonyms=Long, NC-493; IsoId=P39060-1; Sequence=VSP_023131; Note=Produced by alternative splicing of isoform 1.; Name=3; Synonyms=Short, NC1-303; IsoId=P39060-2; Sequence=VSP_023130, VSP_023132; Note=Produced by alternative promoter usage.;
DiseaseKnobloch syndrome 1 (KNO1) [MIM:267750]: A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia. {ECO:0000269|PubMed:10942434, ECO:0000269|PubMed:23667181}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCOLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.
FunctionEndostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling.
InteractionSelf; NbExp=6; IntAct=EBI-981314, EBI-981314; P05067:APP; NbExp=2; IntAct=EBI-2566375, EBI-821758; P19338:NCL; NbExp=12; IntAct=EBI-2566375, EBI-346967; Q15113:PCOLCE; NbExp=4; IntAct=EBI-2566375, EBI-8869614; P21980:TGM2; NbExp=2; IntAct=EBI-2566375, EBI-727668;
PolymorphismThere is an association between a polymorphism in position 1675 and prostate cancer. Heterozygous Asn-1675 individuals have a 2.5 times increased chance of developing prostate cancer as compared with homozygous Asp-1675 individuals.
PtmProlines at the third position of the tripeptide repeating unit (G-X-Y) of the triple-helical regions are hydroxylated.
SimilarityBelongs to the multiplexin collagen family. {ECO:0000305}.
SimilarityContains 1 FZ (frizzled) domain. {ECO:0000255|PROSITE- ProRule:PRU00090}.
SimilarityContains 1 laminin G-like domain. {ECO:0000305}.
Subcellular LocationSecreted, extracellular space, extracellular matrix {ECO:0000250}.
Tissue SpecificityPresent in multiple organs with highest levels in liver, lung and kidney.
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