DSG1
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]
Full Name
Desmoglein 1
Research Area
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
Biological Process
Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Source: UniProtKB
Cell-cell adhesion Source: GO_Central
Cell-cell junction assembly Source: UniProtKB
Homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
Protein stabilization Source: BHF-UCL
Cell-cell adhesion Source: GO_Central
Cell-cell junction assembly Source: UniProtKB
Homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
Protein stabilization Source: BHF-UCL
Cellular Location
Cell membrane; Desmosome
Involvement in disease
Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1):
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.
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE):
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.
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.
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE):
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.
Topology
Extracellular: 50-548
Helical: 549-569
Cytoplasmic: 570-1049
Helical: 549-569
Cytoplasmic: 570-1049
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Anti-DSG1 antibodies
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Target: DSG1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: EG999
Application*: WB, P
Target: DSG1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBHb195
Application*: WB, IP, IF, P
Target: DSG1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human, Mouse, Rat
Clone: CBFYA-0124
Application*: WB, IP, IF, E, P
Target: DSG1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Horse, Cattle
Clone: 71
Application*: WB, P, IF, F, IP
Target: DSG1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 62
Application*: IH
Target: DSG1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 18D4
Application*: IH
Target: DSG1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 16k95
Application*: IH, WB
Target: DSG1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: D1748
Application*: IH
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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