DSC1 Gene - Desmocollin 1
A key component of desmosomes involved in cell adhesion and skin integrity
Gene Information Card
| Symbol | DSC1 |
|---|---|
| Full Name | Desmocollin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 1823 ncbi.nlm.nih.gov/gene/1823 |
| Ensembl ID | ENSG00000134765 |
| UniProt ID | Q08554 |
| OMIM ID | 125643 |
| HGNC ID | 3037 |
| Aliases | CDHF1, DG2, DG3 |
Description
DSC1 encodes desmocollin 1, a calcium-dependent glycoprotein of the cadherin superfamily. It is a major component of desmosomes, intercellular junctions that provide mechanical strength to tissues, particularly in the epidermis and heart. DSC1 is expressed in the upper layers of the epidermis and is essential for keratinocyte adhesion and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | Mutations in DSC1 disrupt desmosome integrity, leading to myocyte detachment and fibrofatty replacement of the myocardium. | ClinVar, OMIM |
| Palmoplantar keratoderma (PPK) | Loss-of-function variants impair epidermal adhesion, causing hyperkeratosis on palms and soles. | ClinVar, OMIM |
| Erythrokeratoderma variabilis (EKV) | Missense mutations alter desmocollin 1 structure, affecting cell-cell adhesion and skin barrier function. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 45.2 | High |
| Esophagus | 12.8 | Medium |
| Heart | 3.1 | Low |
| Lung | 1.5 | Low |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 38.7 | High expression |
| A431 (epidermoid carcinoma) | 22.1 | Moderate expression |
| NCI-H226 (lung squamous) | 5.4 | Low expression |
| MCF7 (breast) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.166G>A (p.Gly56Arg) | Missense | Rare | Loss of calcium binding, reduced adhesion |
| c.523C>T (p.Arg175*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1022T>C (p.Leu341Pro) | Missense | Rare | Disrupted cadherin domain, dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported for DSC1.
Dominant Negative (DN)
Missense mutations in the cadherin domain that interfere with desmosome assembly.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • calcium ion binding |
| • desmosome | • homophilic cell adhesion via plasma membrane adhesion molecules |
| • epidermis development |
Pathways
• Cell junction organization (Reactome: R-HSA-446728)
• Desmosome assembly (Reactome: R-HSA-157118)
Protein Summary
Desmocollin 1 is a 894-amino acid transmembrane glycoprotein with five extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail that interacts with plakoglobin and desmoplakin. It mediates calcium-dependent homophilic adhesion between adjacent cells, critical for maintaining tissue integrity in the skin and heart.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DSC1 Knockout HEK293 Cell Line | EDJ-KQ3293 | Human | 1823 | Details Get a Quote |
| DSC1 Knockout HeLa Cell Line | EDJ-KQ53119 | Human | 1823 | Details Get a Quote |
| DSC1 Knockout A-549 Cell Line | EDJ-KQ61592 | Human | 1823 | Details Get a Quote |
| DSC1 Knockout HCT 116 Cell Line | EDJ-KQ70082 | Human | 1823 | Details Get a Quote |
