DSG1 (Desmoglein 1)
Key Cadherin in Desmosomal Adhesion and Skin Integrity
Gene Information Card
| Symbol | DSG1 |
|---|---|
| Full Name | Desmoglein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 1828 ncbi.nlm.nih.gov/gene/1828 |
| Ensembl ID | ENSG00000134748 |
| UniProt ID | Q02413 |
| OMIM ID | 125670 |
| HGNC ID | 3048 |
| Aliases | CDHF4, DG1, DSG, SPPK1 |
Description
DSG1 encodes desmoglein 1, a calcium-binding transmembrane glycoprotein belonging to the desmoglein subfamily of cadherins. It is a core component of desmosomes, intercellular junctions that provide mechanical strength to epithelial tissues, particularly the epidermis. DSG1 mediates keratinocyte cell-cell adhesion and is critical for maintaining skin barrier integrity. Mutations in DSG1 cause striate palmoplantar keratoderma (SPPK1) and are linked to autoimmune blistering diseases such as pemphigus foliaceus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Striate palmoplantar keratoderma 1 (SPPK1) | Loss-of-function mutations in DSG1 disrupt desmosomal adhesion in palmoplantar epidermis, leading to hyperkeratosis. | OMIM #148700; PMID: 10677329 |
| Pemphigus foliaceus | Autoantibodies target DSG1 extracellular domain, blocking adhesion and causing superficial blistering. | ClinVar; PMID: 10677329 |
| Pemphigus vulgaris (mucosal dominant) | Autoantibodies against DSG3 and DSG1; DSG1 involvement correlates with skin involvement. | ClinVar; PMID: 10677329 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 62.3 | High |
| Esophagus | 28.1 | Medium |
| Oral mucosa | 22.5 | Medium |
| Vagina | 18.7 | Medium |
| Tongue | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 45.0 | High expression |
| A431 (epidermoid carcinoma) | 38.5 | High expression |
| NHEK (normal human epidermal keratinocytes) | 52.1 | High expression |
| MCF7 (breast cancer) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.119G>A (p.Trp40*) | Nonsense | Rare | Loss of function; associated with SPPK1 |
| c.523C>T (p.Arg175Cys) | Missense | Rare | Impaired adhesion; SPPK1 |
| c.790G>A (p.Gly264Arg) | Missense | Rare | Dominant negative; SPPK1 |
| c.1850T>C (p.Leu617Pro) | Missense | Rare | Disrupts cadherin repeat; SPPK1 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Trp40*) lead to truncated protein and haploinsufficiency, causing striate palmoplantar keratoderma.
Gain of Function (GOF)
Not described for DSG1.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly264Arg) produce defective protein that interferes with wild-type desmoglein 1 function, leading to SPPK1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Desmosome assembly (Reactome: R-HSA-157858)
• Cell junction organization (Reactome: R-HSA-446728)
• Keratinocyte differentiation (Reactome: R-HSA-6805567)
Protein Summary
Desmoglein 1 (DSG1) is a 160 kDa transmembrane cadherin composed of four extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail that binds plakoglobin and desmoplakin to anchor intermediate filaments. It is predominantly expressed in stratified squamous epithelia, especially the upper layers of the epidermis. DSG1 is essential for strong cell-cell adhesion; its disruption by mutations or autoantibodies leads to skin fragility and blistering.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DSG1 Knockout HEK293 Cell Line | EDJ-KQ4486 | Human | 1828 | Details Get a Quote |
| DSG1 Knockout A-549 Cell Line | EDJ-KQ61594 | Human | 1828 | Details Get a Quote |
| DSG1 Knockout HCT 116 Cell Line | EDJ-KQ70084 | Human | 1828 | Details Get a Quote |
Displaying Records 1 To 3 Of 3 Records
