| UniProt Protein Function: | Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues. |
| NCBI Summary: | 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. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015] |
| UniProt Code: | Q08554 |
| NCBI GenInfo Identifier: | 223590198 |
| NCBI Gene ID: | 1823 |
| NCBI Accession: | Q08554.2 |
| UniProt Secondary Accession: | Q08554,Q9HB01, |
| UniProt Related Accession: | Q08554 |
| Molecular Weight: | 93,835 Da |
| NCBI Full Name: | Desmocollin-1 |
| NCBI Synonym Full Names: | desmocollin 1 |
| NCBI Official Symbol: | DSC1 |
| NCBI Official Synonym Symbols: | CDHF1; DG2/DG3 |
| NCBI Protein Information: | desmocollin-1 |
| UniProt Protein Name: | Desmocollin-1 |
| UniProt Synonym Protein Names: | Cadherin family member 1; Desmosomal glycoprotein 2/3; DG2/DG3 |
| Protein Family: | Desmocollin |
| UniProt Gene Name: | DSC1 |
| UniProt Entry Name: | DSC1_HUMAN |
