DSP - desmoplakin Gene
Also Known as DP; DCWHKTA
Species: Homo sapiens
About DSP
This gene has 7 transcripts (splice variants), 279 orthologues, 36 paralogues and is associated with 21 phenotypes. Biased expression in skin (RPKM 438.1), esophagus (RPKM 191.0) and 7 other tissues.
Summary
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]
DSP Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001008844.3 | NP_001008844.1 | desmoplakin isoform II |
| NM_001319034.2 | NP_001305963.1 | desmoplakin isoform Ia |
| NM_001406591.1 | NP_001393520.1 | desmoplakin isoform 4 |
| NM_004415.4 | NP_004406.2 | desmoplakin isoform I |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10852826 | GOA |
| enables protein kinase C binding |
IPI
IPI: Inferred from physical interaction
|
18474624 | GOA |
| enables scaffold protein binding |
IPI
IPI: Inferred from physical interaction
|
10852826 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in bundle of His cell-Purkinje myocyte adhesion involved in cell communication |
IMP
IMP: Inferred from mutant phenotype
|
12373648 | GOA |
| acts upstream of or within epithelial cell-cell adhesion |
IMP
IMP: Inferred from mutant phenotype
|
27892606 | GOA |
| involved in regulation of heart rate by cardiac conduction |
IMP
IMP: Inferred from mutant phenotype
|
12373648 | GOA |
| involved in regulation of ventricular cardiac muscle cell action potential |
IMP
IMP: Inferred from mutant phenotype
|
12373648 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in desmosome |
IDA
IDA: Inferred from direct assay
|
20859650 | GOA |
| located in intercalated disc |
IDA
IDA: Inferred from direct assay
|
22781308 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
11790773 | GOA |
DSP Protein Structure
Plectin: Plectin repeat (2048 - 2089)
Plectin: Plectin repeat (2122 - 2165)
Plectin: Plectin repeat (2253 - 2294)
Plectin: Plectin repeat (2289 - 2333)
Plectin: Plectin repeat (2365 - 2409)
Plectin: Plectin repeat (2460 - 2500)
Plectin: Plectin repeat (2648 - 2692)
Plectin: Plectin repeat (2724 - 2767)
- 0
- 500
- 1000
- 1500
- 2000
- 2500
- 2871 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
desmoplakin |
|
DSP Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DSP | P15924 | MAPRE1 | Homo sapiens | Q15691 | 25225338 | |
|
Intra
|
DSP | P15924 | MAPRE1 | Homo sapiens | Q15691 | 25225338 | |
|
Intra
|
DSP | P15924 | FES | Homo sapiens | P07332 | 25852190 | |
|
Intra
|
DSP | P15924 | PKP1 | Homo sapiens | Q13835-2 | 10852826 |
Recombinant DSP Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72176 | DSP Protein, Human (His-SUMO) | P15924 (C78-D300) | ≥ 90%, as determined by reducing SDS-PAGE. |
DSP Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82634 | Desmoplakin Antibody (YA2379) | WB, ICC/IF, FC | Human, Rat |
| HY-P82634A | Desmoplakin Antibody (YA2379)(PBS only) | WB, ICC/IF, FC | Human, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Skin Fragility-Woolly Hair Syndrome |
|
|
| Epidermolysis Bullosa, Lethal Acantholytic |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
|
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
|
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
|
| Keratosis Palmoplantaris Striata Ii |
|
|
| Familial Isolated Arrhythmogenic Right Ventricular Dysplasia |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Erythrokeratodermia-Cardiomyopathy Syndrome |
|
|
| Cardiomyopathy, Dilated, 1a |
|
|
| Striate Palmoplantar Keratoderma |
|
|
| Cardiomyopathy, Dilated, 1h |
|
|
| Heart Conduction Disease |
|
|
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
|
| Cardiac Conduction Defect |
|
|
| Aortic Valve Disease 1 |
|
|
| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form |
|
|
| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form |
|
|
| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form |
|
|
| Long Qt Syndrome 1 |
|
|
| Dilated Cardiomyopathy |
|
|
| Familial Isolated Dilated Cardiomyopathy |
|
|
| Myocarditis |
|
|
| Erythema Multiforme |
|
|
| Cardiac Arrest |
|
|
| Pemphigus |
|
|
| Progressive Familial Heart Block, Type Ia |
|
|
| Naxos Disease |
|
|
| Paraneoplastic Pemphigus |
|
|
| Pemphigus Erythematosus |
|
|
| Progressive Familial Heart Block |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
|
| Perineurioma |
|
|
| Pemphigus Vulgaris, Familial |
|
|
| Bullous Pemphigoid |
|
|
| Darier-White Disease |
|
|
| Benign Chronic Pemphigus |
|
|
| Epidermolysis Bullosa |
|
|
| Hair Disease |
|
|
| Interstitial Lung Disease 2 |
|
|
| Palmoplantar Keratosis |
|
|
| Cardiomyopathy, Dilated, 1b |
|
|
| Alopecia |
|
|
| Long Qt Syndrome |
|
|
| Pemphigus Foliaceus |
|
|
| Epithelioid Neurofibroma |
|
|
| Pemphigoid |
|
|
| Diffuse Palmoplantar Keratoderma |
|
|
| Palmoplantar Keratoderma, Nonepidermolytic |
|
|
| Familial Woolly Hair Syndrome |
|
|
| Thymoma |
|
|
| Heart Disease |
|
|
| Microscopic Polyangiitis |
|
|
| Cardiac Sarcoidosis |
|
|
| Tooth Agenesis |
|
|
| Atrial Standstill 1 |
|
|
| Iga Pemphigus |
|
|
| Ectodermal Dysplasia |
|
|
| Bullous Skin Disease |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
|
| Left Bundle Branch Hemiblock |
|
|
| Epidermolytic Hyperkeratosis |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
|
| Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation |
|
|
| Punctate Palmoplantar Keratoderma |
|
|
| Palmoplantar Keratoderma, Epidermolytic |
|
|
| Skin Disease |
|
|
| Subcorneal Pustular Dermatosis |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
|
| Right Bundle Branch Block |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Meningioma, Familial |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Acute Myocarditis |
|
|
| Epidermolysis Bullosa Simplex |
|
|
| Colorectal Cancer |
|
|
| Supine Hypotensive Syndrome |
|
|
| Pachyonychia Congenita 1 |
|
|
| Restrictive Cardiomyopathy |
|
|
| Left Ventricular Noncompaction |
|
|
| Cardiomyopathy, Dilated, 1e |
|
|
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
|
| Brugada Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | DSP | VGNC | VGNC:61640 |
| Mus musculus | DSP | MGD | MGI:109611 |
| Canis familiaris | DSP | VGNC | VGNC:40110 |
| Bos taurus | DSP | VGNC | VGNC:28225 |
| Macaca mulatta | DSP | VGNC | VGNC:72004 |
| Rattus norvegicus | DSP | RGD | RGD:1305794 |
| Others | DSP | NCBI |