Human Gene DSC1 (uc002kwn.3) Description and Page Index
Description: Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. RefSeq Summary (NM_024421): 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]. Transcript (Including UTRs) Position: hg19 chr18:28,709,214-28,742,819 Size: 33,606 Total Exon Count: 16 Strand: - Coding Region Position: hg19 chr18:28,710,477-28,742,557 Size: 32,081 Coding Exon Count: 16
ID:DSC1_HUMAN DESCRIPTION: RecName: Full=Desmocollin-1; AltName: Full=Cadherin family member 1; AltName: Full=Desmosomal glycoprotein 2/3; Short=DG2/DG3; Flags: Precursor; 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. SUBUNIT: Binds to JUP/plakoglobin. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome. TISSUE SPECIFICITY: Strongly expressed in epidermis, less in lymph node and tongue. DOMAIN: Calcium may be bound by the cadherin-like repeats (Potential). SIMILARITY: Contains 5 cadherin domains.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q08554
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.