Identity
HGNC
LOCATION
18q12.1
LOCUSID
ALIAS
CDHF4,DG1,DSG,EPKHE,EPKHIA,PPKS1,SPPK1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1828
MIM: 125670
HGNC: 3048
Ensembl: ENSG00000134760
Variants:
dbSNP: 1828
ClinVar: 1828
TCGA: ENSG00000134760
COSMIC: DSG1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000134760 | ENST00000257192 | Q02413 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36305887 | 2023 | Two cases of Hallopeau-type pemphigus vegetans with anti-desmoglein 1 and anti-desmocollin 3 antibodies without mucosal involvement. | 0 |
| 37733372 | 2023 | Melanoma cells repress Desmoglein 1 in keratinocytes to promote tumor cell migration. | 0 |
| 36305887 | 2023 | Two cases of Hallopeau-type pemphigus vegetans with anti-desmoglein 1 and anti-desmocollin 3 antibodies without mucosal involvement. | 0 |
| 37733372 | 2023 | Melanoma cells repress Desmoglein 1 in keratinocytes to promote tumor cell migration. | 0 |
| 34352264 | 2022 | Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease. | 4 |
| 34657339 | 2022 | Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations. | 1 |
| 34954205 | 2022 | Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells. | 2 |
| 35711465 | 2022 | Dsg1 and Dsg3 Composition of Desmosomes Across Human Epidermis and Alterations in Pemphigus Vulgaris Patient Skin. | 4 |
| 36495876 | 2022 | Epidermal stratification requires retromer-mediated desmoglein-1 recycling. | 5 |
| 34352264 | 2022 | Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease. | 4 |
| 34657339 | 2022 | Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations. | 1 |
| 34954205 | 2022 | Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells. | 2 |
| 35711465 | 2022 | Dsg1 and Dsg3 Composition of Desmosomes Across Human Epidermis and Alterations in Pemphigus Vulgaris Patient Skin. | 4 |
| 36495876 | 2022 | Epidermal stratification requires retromer-mediated desmoglein-1 recycling. | 5 |
| 33158670 | 2021 | Identification of a primary antigenic target of epitope spreading in endemic pemphigus foliaceus. | 7 |
Citation
Dessen P
DSG1 (desmoglein 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/40366/dsg1
