DSP
Domain
The N-terminal region is required for localization to the desmosomal plaque and interacts with the N-terminal region of PKP1.
Function
Major high molecular weight protein of desmosomes. Regulates profibrotic gene expression in cardiomyocytes via activation of the MAPK14/p38 MAPK signaling cascade and increase in TGFB1 protein abundance (By similarity).
Involvement in disease
Keratoderma, palmoplantar, striate 2
SPPK2
A dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.
None
The disease is caused by variants affecting the gene represented in this entry.
Cardiomyopathy, dilated, with woolly hair and keratoderma
DCWHK
An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Arrhythmogenic right ventricular dysplasia, familial, 8
ARVD8
A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
None
The disease is caused by variants affecting the gene represented in this entry.
Epidermolysis bullosa, lethal acantholytic
EBLA
A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.
None
The disease is caused by variants affecting the gene represented in this entry.
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
DCWHKTA
A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the plakin or cytolinker family.
Tissue Specificity
Expressed in oral mucosa (at protein level) (PubMed:30479852). Expressed in arrector pili muscle (at protein level) (PubMed:29034528).
Isoform DPI
Apparently an obligate constituent of all desmosomes.
Isoform DPII
Resides predominantly in tissues and cells of stratified origin.
Cellular localization
- Cell junction
- Desmosome
- Cell membrane
- Cytoplasm
- Localizes to desmosome precursor particles in the cytoplasm (PubMed:25208567). Localizes to the cytoplasm in undifferentiated keratinocytes however becomes localizes to both lateral and tricellular cell-cell contacts as differentiation progresses and as epithelial sheet formation completes (By similarity).
Alternative names
Desmoplakin, DP, 250/210 kDa paraneoplastic pemphigus antigen, DSP