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.
In the Vinony graph
Within Vinony's link graph, DSC1 is referenced by 68 other articles, and connects out to PubMed, human chromosome 18 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 18.
Its subject is documented across 5 Wikipedia language editions.
Gene data
DSC1- Name
- desmocollin 1
- Type
- protein-coding
- Position
- 31,129,236–31,162,981 (−)
- Aliases
- CDHF1, DG2/DG3
- Ensembl
- ENSG00000134765
- RefSeq RNA
- NM_004948.3, NM_024421.2, XM_054318236.1
- RefSeq protein
- NP_004939.1, NP_077739.1, XP_054174211.1
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 Ontology
Biological process
Molecular function
Pathways
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
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 22761
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1823
- genomic end
- 28742819
- genomic start
- 28709199
- chromosome
- human chromosome 18
- cytogenetic location
- 18q12.1
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- Interactions
- References
- 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.
Excerpted from Wikipedia’s “DSC1” article, available under the CC BY-SA 4.0 licence.