Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
DSC1 desmocollin 1 CDHF1 , DG2/DG3 Homo sapiens 17 protein-coding DSC3 , DSC2 , DSG3 , DSG4 , DSG1 , DSG2 125643

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]

Gene Loss events - DSC1 (4 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_0DIELL Physeter catodon Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41467-018-03667-1
GL_G4MXSX Balaenoptera acutorostrata Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41467-018-03667-1
GL_HS1ARM Tursiops truncatus Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41467-018-03667-1
GL_O16RPH Orcinus orca Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41467-018-03667-1