DSC1

From Wikipedia, the free encyclopedia

Desmocollin 1

Identifiers

DSC1; CDHF1; DG2/DG3

External IDs

OMIM: 125643 MGI: 109173 HomoloGene: 22761

Gene ontology
Molecular Function:	• calcium ion binding • protein binding
Cellular Component:	• membrane fraction • cytoskeleton • integral to plasma membrane • gap junction • membrane • desmosome
Biological Process:	• cell adhesion • homophilic cell adhesion

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004948 (mRNA)
NP_004939 (protein)

NM_013504 (mRNA)
NP_038532 (protein)

Location

Chr 18: 26.96 - 27 Mb

Chr 18: 20.23 - 20.26 Mb

Pubmed search

[1]

[2]

Desmocollin 1, also known as DSC1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: DSC1 desmocollin 1.

[edit] Further reading

Buxton RS, Cowin P, Franke WW, et al. (1993). "Nomenclature of the desmosomal cadherins.". J. Cell Biol. 121 (3): 481–3. PMID 8486729.
Garrod DR, Merritt AJ, Nie Z (2003). "Desmosomal cadherins.". Curr. Opin. Cell Biol. 14 (5): 537–45. PMID 12231347.
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. PMID 1713860.
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. PMID 7665906.
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. PMID 7679953.
Troyanovsky SM, Troyanovsky RB, Eshkind LG, et al. (1994). "Identification of amino acid sequence motifs in desmocollin, a desmosomal glycoprotein, that are required for plakoglobin binding and plaque formation.". Proc. Natl. Acad. Sci. U.S.A. 91 (23): 10790–4. PMID 7971964.
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. PMID 8288219.
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. PMID 8507556.
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. PMID 8884173.
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. PMID 9192840.
Chitaev NA, Troyanovsky SM (1997). "Direct Ca2+-dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion.". J. Cell Biol. 138 (1): 193–201. PMID 9214392.
Smith EA, Fuchs E (1998). "Defining the interactions between intermediate filaments and desmosomes.". J. Cell Biol. 141 (5): 1229–41. PMID 9606214.
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. PMID 9810708.
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. PMID 10644442.
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. PMID 11027496.
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. PMID 11442746.
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. PMID 11790773.
Bonné S, Gilbert B, Hatzfeld M, et al. (2003). "Defining desmosomal plakophilin-3 interactions.". J. Cell Biol. 161 (2): 403–16. doi:10.1083/jcb.200303036. PMID 12707304.