Desmocollin-1/DSC1 [A4]

Desmocollin-1, also known as Cadherin family member 1 (CDHF1), is encoded by the DSC1 gene in human. Desmocollin-1 is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. Desmocollins, along with the desmogleins, are found primarily in epithelial cells where they constitute the desmosomes, a type of cell junction required for cell adhesion. Desmocollins contain an amino-terminal extracellular domain or ectodomain or EC domain that is followed by a transmembrane domain and a carboxyl-terminal intracellular domain. The extracellular domain mediates intercellular interactions in the desmosome whereas the intracellular domain mediates Desmocollin interaction with intermediate filaments. The DSC1 gene comprises 17 exons spanning approximately 33 kb on 18q12.1, and the DSC3 gene comprises 17 exons spanning approximately 49 kb on 18q12.1. Alternative splicing gives rise to two DSC1 and DSC3 isoforms, designated 1A and 1B, and 3A and 3B, respectively, which differ in their carboxy termini. DSC1 and DSC3 may contribute to epidermal cell positioning by mediating differential adhesiveness between cells that express different isoforms.