Description: Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. RefSeq Summary (NM_030582): 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]. Transcript (Including UTRs) Position: hg19 chr21:46,875,424-46,933,634 Size: 58,211 Total Exon Count: 41 Strand: + Coding Region Position: hg19 chr21:46,875,445-46,932,312 Size: 56,868 Coding Exon Count: 41
breast cancer Lourenco, G. J. et al. 2006, A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene, Breast Cancer Res Treat 2006.
[PubMed 16807676]
breast cancer Balasubramanian, S. P. et al. 2007, Endostatin gene variation and protein levels in breast cancer susceptibility and severity, BMC Cancer 2007 7(1) 107.
[PubMed 17587451]
The Endostatin 4349A allele is associated with$$$ invasive breast cancer.
Diabetes Mellitus, Type 2|Obesity Flavia I V Errera , et al. An Acad Bras Cienc. 2008 80(1):167-77, COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients., An Acad Bras Cienc. 2008 80(1):167-77.
[PubMed 18345385]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on D3DSM5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.