HGNC Approved Gene Symbol: COL16A1
Cytogenetic location: 1p35.2 Genomic coordinates (GRCh38): 1:31,652,263-31,704,017 (from NCBI)
Pan et al. (1992) cloned the gene for a new form of collagen with features resembling those of members of the FACIT (fibril-associated collagens with interrupted triple helices) group. Northern blot analyses showed hybridization of the cDNA to a 5.5-kb mRNA in human fibroblasts and keratinocytes.
By microarray analysis, Jun et al. (2001) demonstrated expression of the COL16A1 gene in human donor corneas.
By in situ hybridization, Pan et al. (1992) localized the gene to 1p35-p34. They designated the collagen chain encoded by the cDNA the alpha-1 chain of type XVI collagen. Yamaguchi et al. (1992) also cloned and partially characterized the COL16A1 gene. Furthermore, they also assigned the gene to chromosome 1 and regionalized it to 1p34-p13 by examination of somatic cell hybrids containing spontaneous breaks or translocations. Combined with the in situ hybridization data, the findings suggested that the COL16A1 gene lies in the 1p34 band.
The collagens fall into 2 major classes: the fibril-forming collagens and the nonfibril-forming collagens. A long central triple-helical domain, without gly-Xaa-Xaa interruptions, is the hallmark of the former class; collagens type I, II, III, V, and XI, which form highly organized fibrils in a quarter-staggered fashion, are members of this class. The remaining collagens belong to the latter class with a common feature being the presence of imperfections in the gly-Xaa-Xaa repeating pattern. Within the latter class, collagens type IX, XII, and XIV form a subgroup called the FACIT collagens (for 'fibril-associated collagens with interrupted triple helices'). These collagens are associated with type I or II collagen fibrils and play a role in interaction of these fibrils with other matrix components (summary by Pan et al., 1992).
Jun, A. S., Liu, S. H., Koo, E. H., Do, D. V., Stark, W. J., Gottsch, J. D. Microarray analysis of gene expression in human donor corneas. Arch. Ophthal. 119: 1629-1634, 2001. [PubMed: 11709013] [Full Text: https://doi.org/10.1001/archopht.119.11.1629]
Pan, T.-C., Zhang, R.-Z., Mattei, M.-G., Timpl, R., Chu, M.-L. Cloning and chromosomal location of human alpha-1(XVI) collagen. Proc. Nat. Acad. Sci. 89: 6565-6569, 1992. [PubMed: 1631157] [Full Text: https://doi.org/10.1073/pnas.89.14.6565]
Yamaguchi, N., Kimura, S., McBride, O. W., Hori, H., Yamada, Y., Kanamori, T., Yamakoshi, H., Nagai, Y. Molecular cloning and partial characterization of a novel collagen chain, alpha-1(XVI), consisting of repetitive collagenous domains and cysteine-containing non-collagenous segments. J. Biochem. 112: 856-863, 1992. [PubMed: 1284248] [Full Text: https://doi.org/10.1093/oxfordjournals.jbchem.a123989]