Desmocollin-1 is a protein that in humans is encoded by the DSC1gene.[1][2]
The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms.[2]
King IA, Magee AI, Rees DA, Buxton RS (1991). "Keratinization is associated with the expression of a new protein related to the desmosomal cadherins DGII/III". FEBS Lett. 286 (1–2): 9–12. doi:10.1016/0014-5793(91)80929-W. PMID1713860.
King IA, Sullivan KH, Bennett R, Buxton RS (1995). "The desmocollins of human foreskin epidermis: identification and chromosomal assignment of a third gene and expression patterns of the three isoforms". J. Invest. Dermatol. 105 (3): 314–21. doi:10.1111/1523-1747.ep12319935. PMID7665906.
Troyanovsky SM, Eshkind LG, Troyanovsky RB, et al. (1993). "Contributions of cytoplasmic domains of desmosomal cadherins to desmosome assembly and intermediate filament anchorage". Cell. 72 (4): 561–74. doi:10.1016/0092-8674(93)90075-2. PMID7679953.
King IA, Arnemann J, Spurr NK, Buxton RS (1994). "Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18". Genomics. 18 (2): 185–94. doi:10.1006/geno.1993.1453. PMID8288219.
Theis DG, Koch PJ, Franke WW (1993). "Differential synthesis of type 1 and type 2 desmocollin mRNAs in human stratified epithelia". Int. J. Dev. Biol. 37 (1): 101–10. PMID8507556.
Nuber UA, Schäfer S, Stehr S, et al. (1997). "Patterns of desmocollin synthesis in human epithelia: immunolocalization of desmocollins 1 and 3 in special epithelia and in cultured cells". Eur. J. Cell Biol. 71 (1): 1–13. PMID8884173.
Cowley CM, Simrak D, Marsden MD, et al. (1997). "A YAC contig joining the desmocollin and desmoglein loci on human chromosome 18 and ordering of the desmocollin genes". Genomics. 42 (2): 208–16. doi:10.1006/geno.1997.4718. PMID9192840.
Kurzen H, Moll I, Moll R, et al. (1998). "Compositionally different desmosomes in the various compartments of the human hair follicle". Differentiation. 63 (5): 295–304. doi:10.1046/j.1432-0436.1998.6350295.x. PMID9810708.
Hunt DM, Sahota VK, Taylor K, et al. (2000). "Clustered cadherin genes: a sequence-ready contig for the desmosomal cadherin locus on human chromosome 18". Genomics. 62 (3): 445–55. doi:10.1006/geno.1999.6036. PMID10644442.
Whittock NV, Hunt DM, Rickman L, et al. (2000). "Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3". Biochem. Biophys. Res. Commun. 276 (2): 454–60. doi:10.1006/bbrc.2000.3500. PMID11027496.
Ishii K, Norvell SM, Bannon LJ, et al. (2001). "Assembly of desmosomal cadherins into desmosomes is isoform dependent". J. Invest. Dermatol. 117 (1): 26–35. doi:10.1046/j.0022-202x.2001.01400.x. PMID11442746.
Chen X, Bonne S, Hatzfeld M, et al. (2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". J. Biol. Chem. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID11790773.