DSG1

Chr 18q12.1

desmoglein 1

Aliases:: CDHF4
MANE:: ENST00000257192.5

OMIM: 125670 ↗NCBI: 1828 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

DSG1 · Q02413

v62025-08-01

Predicted Aligned Error matrix for DSG1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.1/ 100

Low

1,049 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)9%
Low(50–70)13%
Very low(< 50)44%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar keratoderma and erythrokeratodermas
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar keratodermas
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

severe dermatitis-multiple allergies-metabolic wasting syndrome
0.73
palmoplantar keratoderma i, striate, focal, or diffuse
0.73
striate palmoplantar keratoderma
0.46
hereditary palmoplantar keratoderma
0.45
epidermolytic palmoplantar keratoderma, 1
0.37
Palmoplantar keratoderma
0.37
diffuse palmoplantar keratoderma with painful fissures
0.37
focal palmoplantar keratoderma with joint keratoses
0.37
dermatophytosis
0.34
epidermal disease
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Desmoglein-1

A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:19717567). Promotes differentiation of keratinocytes via interaction with ERBIN. Reduces activation of RAS/ERK signaling pathways in keratinocytes via promoting ERBIN localization to the cell membrane and its interaction with SHOC2, this competitively reduces the formation of RAS-SHOC2 ERK-activating complexes (PubMed:23524970). Mediates the interaction between the desmosome and COP9 signalosome complex (CSN) protein complex (PubMed:28891468). As a result of this interaction, promotes keratinocyte differentiation via deneddylation of EGFR resulting in a reduction in EGFR protein stabilization and translocation away from the cell membrane (PubMed:28891468). Critical for epidermal integrity and barrier function of the skin (By similarity). Required for esophageal epithelial barrier integrity and correct intercellular spacing in differentiated esophageal epithelium (PubMed:24220297). Required for recovery of epidermal architecture and correct expression of differentiation markers following UVB exposure (PubMed:24594668). May also be required for OCLN involvement in tight junctions (By similarity)