DSG1
Sign in to saveAlso known as CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1, desmoglein 1
Desmoglein-1 is a protein that in humans is encoded by the DSG1 gene. Desmoglein-1 is expressed everywhere in the skin epidermis, but mainly it is expressed in the superficial upper layers of the skin epidermis.
Gene data
DSG1- Name
- desmoglein 1
- Type
- protein-coding
- Aliases
- CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1
This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015].
via MyGene.info
Gene · Ensembl
desmoglein 1
- Symbol
- DSG1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 18:31,318,125-31,359,246
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 1463
- exact match
- identifiers.org/ncbigene/1828
- genomic end
- 31359246
- genomic start
- 31318160
- cytogenetic location
- 18q12.1
Sources (7)
via Wikidata · CC0
~2 min read
Article
5 sectionsContents
- Function
- Interactions
- See also
- References
- Further reading
Desmoglein-1 is a protein that in humans is encoded by the DSG1 gene. Desmoglein-1 is expressed everywhere in the skin epidermis, but mainly it is expressed in the superficial upper layers of the skin epidermis.
== Function == Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein-1 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, four desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus. It has been found that desmoglein-1 is the target antigen in majority of the cases linked to IgG/IgA pemphigus, which is an autoimmune IgG/IgA antibody mediated response. Desmoglein-1 is also a target of Staphylococcus exotoxins (exfoliatins) A and B which contribute to the pathoaetiology of staphylococcal scalded skin syndrome (SSSS).