DSP Gene Summary [Human]
This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | DSP |
| Official Name | desmoplakin [Source:HGNC Symbol;Acc:HGNC:3052] |
| Ensembl ID | ENSG00000096696 |
| Bio databases IDs | |
| Aliases | desmoplakin |
| Synonyms | 2300002E22Rik, 5730453H04RIK, DCWHKTA, desmoplakin, DP, DPII, rul |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DSP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Spectrin like domain
- SH3 domain
- Synaptonemal complex protein 1 (SCP-1)
- Autophagy protein ATG17-like domain
- helix-rich Mycoplasma protein
- chromosome segregation protein SMC, common bacterial type
- Tropomyosin
- structural constituent of cytoskeleton
- Plectin repeat
- Centrosomal protein of 63 kDa
- HOOK protein coiled-coil region
- Mitotic checkpoint protein
- SPEC
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- Weak chloroplast movement under blue light
- Tropomyosin like
- Ezrin/radixin/moesin, alpha-helical domain
- Hyaluronan mediated motility receptor N-terminal
- rad50
- protein kinase C binding
- Myosin tail
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- Alpha helical coiled-coil rod protein (HCR)
- Domain of unknown function (DUF4686)
- RecF/RecN/SMC N terminal domain
- Spectrin repeats
- RIM-binding protein of the cytomatrix active zone
- Mechanosensitive ion channel porin domain
- Trichohyalin-plectin-homology domain
- Intermediate filament protein
- Septation ring formation regulator, EzrA
Pathways
Biological processes and signaling networks where the DSP gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- fibrosis
- epithelial cancer
- epithelial neoplasia
- neoplasia
- lymphatic neoplasia
- keratosis palmoplantaris striata II
- familial arrhythmogenic right ventricular dysplasia type 8
- dilated cardiomyopathy with woolly hair and keratoderma
- cardiomyopathy
- arrhythmogenic right ventricular cardiomyopathy
role in cell
- migration
- quantity
- expression in
- activation in
- phosphorylation in
- signaling in
- growth
- function
- apoptosis
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent-insoluble fractions
- insoluble fractions
- cornified envelope
- Cytoplasm
- cell borders
- cell periphery
- intracellular space
- membrane surface
- cellular membrane
- cell cortex
- Nucleus
- intermediate filaments
- myofilaments
- intercellular junctions
- desmosomes
- cell-cell contacts
- secretory granule membrane
- basolateral membrane
- lateral plasma membrane
- nucleoli
- nuclear scaffolds
- intercalated disks
- cell-cell adherens junctions
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DSP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- adherens junction organization
- epithelial cell-cell adhesion
- epidermis development
- intermediate filament cytoskeleton organization
- skin development
- intermediate filament organization
- ventricular compact myocardium morphogenesis
- keratinocyte differentiation
- wound healing
- desmosome organization
- regulation of heart rate by cardiac conduction
- peptide cross-linking
- bundle of His cell-Purkinje myocyte adhesion involved in cell communication
Cellular Component
Where in the cell the gene product is active
- nucleus
- cornified envelope
- adherens junction
- extracellular vesicular exosome
- cytoplasm
- fascia adherens
- intercalated disc
- desmosome
- intermediate filament
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein kinase C binding
- scaffold protein binding
- RNA binding
- protein binding
- structural molecule activity
- cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
- structural constituent of cytoskeleton