DSC1

Desmocollin-1 is a protein that in humans is encoded by the DSC1 gene.

DSC1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5IRY
Identifiers
Aliases	DSC1, CDHF1, DG2/DG3, desmocollin 1
External IDs	OMIM: 125643; MGI: 109173; HomoloGene: 22761; GeneCards: DSC1; OMA:DSC1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human) Band 18q12.1 Start 31,129,236 bp End 31,162,856 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18|18 A2 Start 20,217,241 bp End 20,247,928 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh skin of hip skin of arm human penis nipple vulva skin of abdomen cardiac muscle tissue of right atrium hair follicle right auricle Top expressed in skin of external ear hair follicle esophagus skin of back lip condyle umbilical cord skin of abdomen fossa human fetus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding metal ion binding Cellular component integral component of membrane gap junction cell junction desmosome extracellular exosome membrane cornified envelope plasma membrane ficolin-1-rich granule membrane cell-cell junction Biological process cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules keratinization neutrophil degranulation cornification cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1823 13505 Ensembl ENSG00000134765 ENSMUSG00000044322 UniProt Q08554 P55849 RefSeq (mRNA) NM_024421 NM_004948 NM_001291804 NM_013504 RefSeq (protein) NP_004939 NP_077739 NP_001278733 NP_038532 Location (UCSC) Chr 18: 31.13 – 31.16 Mb Chr 18: 20.22 – 20.25 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

Interactions

DSC1 has been shown to interact with Desmoglein 2.

Further reading

• Garrod DR, Merritt AJ, Nie Z (2003). "Desmosomal cadherins". Curr. Opin. Cell Biol. 14 (5): 537–45. doi:10.1016/S0955-0674(02)00366-6. 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. doi:10.1016/0014-5793(91)80929-W. PMID 1713860. S2CID 32870803.
• 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. 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. doi:10.1016/0092-8674(93)90075-2. PMID 7679953. S2CID 25724256.
• 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. Bibcode:1994PNAS...9110790T. doi:10.1073/pnas.91.23.10790. PMC 45111. 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. doi:10.1083/jcb.138.1.193. PMC 2139935. PMID 9214392.
• Smith EA, Fuchs E (1998). "Defining the Interactions Between Intermediate Filaments and Desmosomes". J. Cell Biol. 141 (5): 1229–41. doi:10.1083/jcb.141.5.1229. PMC 2137181. 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. doi:10.1046/j.1432-0436.1998.6350295.x. 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. PMC 2172904. PMID 12707304.