MGP Database

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MGP000877

UniProt Annotations

Entry Information
Gene Namedesmoglein 1
Protein EntryDSG1_HUMAN
UniProt IDQ02413
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q02413-1; Sequence=Displayed; Name=2; IsoId=Q02413-2; Sequence=VSP_055930; Note=No experimental confirmation available.;
DiseaseErythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE) [MIM:615508]: A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting. {ECO:0000269|PubMed:23974871}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePalmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1) [MIM:148700]: A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger. {ECO:0000269|PubMed:10332028}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThree calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain. {ECO:0000250}.
FunctionComponent of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
SimilarityContains 4 cadherin domains. {ECO:0000255|PROSITE- ProRule:PRU00043}.
Subcellular LocationCell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, desmosome.
SubunitBinds to JUP/plakoglobin.
Tissue SpecificityEpidermis, tongue, tonsil and esophagus.
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