DSG1 (desmoglein 1)

2003-11-01  

Identity

HGNC
LOCATION
18q12.1
LOCUSID
ALIAS
CDHF4,DG1,DSG,EPKHE,EPKHIA,PPKS1,SPPK1
FUSION GENES

Other Information

Locus ID:

NCBI: 1828
MIM: 125670
HGNC: 3048
Ensembl: ENSG00000134760

Variants:

dbSNP: 1828
ClinVar: 1828
TCGA: ENSG00000134760
COSMIC: DSG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134760ENST00000257192Q02413

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Apoptotic execution phaseREACTOMER-HSA-75153
Apoptotic cleavage of cellular proteinsREACTOMER-HSA-111465
Apoptotic cleavage of cell adhesion proteinsREACTOMER-HSA-351906
Developmental BiologyREACTOMER-HSA-1266738
Neutrophil degranulationREACTOMER-HSA-6798695
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195462432009Desmoglein 1-dependent suppression of EGFR signaling promotes epidermal differentiation and morphogenesis.96
242202972014Desmoglein-1 regulates esophageal epithelial barrier function and immune responses in eosinophilic esophagitis.86
221897872012Desmoglein as a target in skin disease and beyond.52
235249702013Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.44
120938882002Molecular mechanisms of blister formation in bullous impetigo and staphylococcal scalded skin syndrome.42
166281982006Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome.37
162864772006The differentiation-dependent desmosomal cadherin desmoglein 1 is a novel caspase-3 target that regulates apoptosis in keratinocytes.36
156065012004Coordinated expression of desmoglein 1 and desmocollin 1 regulates intercellular adhesion.34
197175672009Desmocollin 3-mediated binding is crucial for keratinocyte cohesion and is impaired in pemphigus.31
227986732012Cutting Edge: Brazilian pemphigus foliaceus anti-desmoglein 1 autoantibodies cross-react with sand fly salivary LJM11 antigen.24

Citation

Dessen P

DSG1 (desmoglein 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40366/dsg1-(desmoglein-1)