DSC1
Sign in to saveAlso known as CDHF1, DG2/DG3, desmocollin 1
Desmocollin-1 is a protein that in humans is encoded by the DSC1 gene.
Gene data
DSC1- Name
- desmocollin 1
- Type
- protein-coding
- Aliases
- CDHF1, DG2/DG3
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].
via MyGene.info
Gene · Ensembl
desmocollin 1
- Symbol
- DSC1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 18:31,129,236-31,162,981
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 22761
- exact match
- identifiers.org/ncbigene/1823
- genomic end
- 28742819
- genomic start
- 28709199
- cytogenetic location
- 18q12.1
Sources (3)
via Wikidata · CC0
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Article
3 sectionsContents
- Interactions
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- Further reading
Desmocollin-1 is a protein that in humans is encoded by the DSC1 gene.
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.