Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1LM5 | 1.8 | Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure |
| 1LM7 | 3.0 | Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure |
| 3R6N | 2.95 | Crystal structure of a rigid four spectrin repeat fragment of the human desmoplakin plakin domain |
| 5DZZ | 2.6 | Structural characterization of intermediate filaments binding domain of desmoplakin |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0034332 | adherens junction organization |
| Biological Process | GO:0086073 | bundle of His cell-Purkinje myocyte adhesion involved in cell communication |
| Biological Process | GO:0098609 | cell-cell adhesion |
| Biological Process | GO:0002934 | desmosome organization |
| Biological Process | GO:0008544 | epidermis development |
| Biological Process | GO:0090136 | epithelial cell-cell adhesion |
| Biological Process | GO:0045104 | intermediate filament cytoskeleton organization |
| Biological Process | GO:0045109 | intermediate filament organization |
| Biological Process | GO:0030216 | keratinocyte differentiation |
| Biological Process | GO:0018149 | peptide cross-linking |
| Biological Process | GO:0150105 | protein localization to cell-cell junction |
| Biological Process | GO:0086091 | regulation of heart rate by cardiac conduction |
| Biological Process | GO:0098911 | regulation of ventricular cardiac muscle cell action potential |
| Biological Process | GO:0043588 | skin development |
| Biological Process | GO:0003223 | ventricular compact myocardium morphogenesis |
| Biological Process | GO:0042060 | wound healing |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0086083 | cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication |
| Molecular Function | GO:0005080 | protein kinase C binding |
| Molecular Function | GO:0097110 | scaffold protein binding |
| Molecular Function | GO:0005200 | structural constituent of cytoskeleton |
| Molecular Function | GO:0005198 | structural molecule activity |
| Cellular Component | GO:0005912 | adherens junction |
| Cellular Component | GO:0016323 | basolateral plasma membrane |
| Cellular Component | GO:0001533 | cornified envelope |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0030057 | desmosome |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005916 | fascia adherens |
| Cellular Component | GO:0101003 | ficolin-1-rich granule membrane |
| Cellular Component | GO:0014704 | intercalated disc |
| Cellular Component | GO:0005882 | intermediate filament |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005886 | plasma membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR001101 | Plectin repeat |
| IPR001452 | SH3 domain |
| IPR018159 | Spectrin/alpha-actinin |
| IPR035915 | Plakin repeat superfamily |
| IPR041573 | Desmoplakin, spectrin-like domain |
| IPR041615 | Desmoplakin, SH3 domain |
| IPR043197 | Plakin |
| Pfam
|
Pfam name |
|---|---|
| PF00681 | Plectin repeat |
| PF17902 | SH3 domain |
| PF18373 | Spectrin like domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-351906 | Apoptotic cleavage of cell adhesion proteins | Leaf | R-HSA-5357801 | Programmed Cell Death |
| R-HSA-6798695 | Neutrophil degranulation | Leaf | R-HSA-168256 | Immune System |
| R-HSA-6805567 | Keratinization | Internal node | R-HSA-1266738 | Developmental Biology |
| R-HSA-6809371 | Formation of the cornified envelope | Leaf | R-HSA-1266738 | Developmental Biology |
| R-HSA-9696264 | RND3 GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9696273 | RND1 GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell junction, desmosome | ECO:0000250 | |
| Cell membrane | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000164 | Abnormality of the dentition |
| HP:0000175 | Cleft palate |
| HP:0000377 | Abnormal pinna morphology |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000561 | Absent eyelashes |
| HP:0000695 | Natal tooth |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000962 | Hyperkeratosis |
| HP:0000969 | Edema |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0000989 | Pruritus |
| HP:0001030 | Fragile skin |
| HP:0001036 | Parakeratosis |
| HP:0001057 | Aplasia cutis congenita |
| HP:0001159 | Syndactyly |
| HP:0001233 | 2-3 finger syndactyly |
| HP:0001279 | Syncope |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001562 | Oligohydramnios |
| HP:0001595 | Abnormal hair morphology |
| HP:0001597 | Abnormality of the nail |
| HP:0001635 | Congestive heart failure |
| HP:0001638 | Cardiomyopathy |
| HP:0001640 | Cardiomegaly |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001645 | Sudden cardiac death |
| HP:0001663 | Ventricular fibrillation |
| HP:0001798 | Anonychia |
| HP:0001802 | Absent toenail |
| HP:0001808 | Fragile nails |
| HP:0001817 | Absent fingernail |
| HP:0001820 | Leukonychia |
| HP:0001836 | Camptodactyly of toe |
| HP:0001852 | Sandal gap |
| HP:0001874 | Abnormality of neutrophils |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002110 | Bronchiectasis |
| HP:0002206 | Pulmonary fibrosis |
| HP:0002223 | Absent eyebrow |
| HP:0002224 | Woolly hair |
| HP:0002289 | Alopecia universalis |
| HP:0002298 | Absent hair |
| HP:0002875 | Exertional dyspnea |
| HP:0002878 | Respiratory failure |
| HP:0003198 | Myopathy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003457 | EMG abnormality |
| HP:0003621 | Juvenile onset |
| HP:0003811 | Neonatal death |
| HP:0004057 | Mitten deformity |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004756 | Ventricular tachycardia |
| HP:0005588 | Patchy palmoplantar hyperkeratosis |
| HP:0005597 | Congenital alopecia totalis |
| HP:0006097 | 3-4 finger syndactyly |
| HP:0006530 | Abnormal pulmonary interstitial morphology |
| HP:0006670 | Impaired myocardial contractility |
| HP:0006682 | Premature ventricular contraction |
| HP:0007418 | Alopecia totalis |
| HP:0008064 | Ichthyosis |
| HP:0008066 | Abnormal blistering of the skin |
| HP:0008094 | Widely spaced toes |
| HP:0008404 | Nail dystrophy |
| HP:0009804 | Tooth agenesis |
| HP:0009884 | Tapered distal phalanges of finger |
| HP:0010444 | Pulmonary insufficiency |
| HP:0010705 | 4-5 finger syndactyly |
| HP:0010783 | Erythema |
| HP:0011039 | Abnormal helix morphology |
| HP:0011421 | Death in adolescence |
| HP:0011463 | Childhood onset |
| HP:0011663 | Right ventricular cardiomyopathy |
| HP:0012735 | Cough |
| HP:0025092 | Epidermal acanthosis |
| HP:0025175 | Honeycomb lung |
| HP:0025179 | Ground-glass opacification |
| HP:0025390 | Reticular pattern on pulmonary HRCT |
| HP:0025708 | Early young adult onset |
| HP:0030816 | Gingival recession |
| HP:0030830 | Crackles |
| HP:0031274 | Hypovolemic shock |
| HP:0031319 | Cardiomyocyte hypertrophy |
| HP:0031538 | Abnormal dermoepidermal junction morphology |
| HP:0032449 | Abnormal dermoepidermal hemidesmosome morphology |
| HP:0100578 | Lipoatrophy |
| HP:0100613 | Death in early adulthood |
| HP:0100759 | Clubbing of fingers |
| HP:0100792 | Acantholysis |
| HP:0200041 | Skin erosion |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| bronchus | respiratory epithelial cells | Medium | Enhanced |
| duodenum | glandular cells | Low | Enhanced |
| esophagus | squamous epithelial cells | Medium | Enhanced |
| gallbladder | glandular cells | Low | Enhanced |
| heart muscle | cardiomyocytes | High | Enhanced |
| oral mucosa | squamous epithelial cells | Low | Enhanced |
| ovary | follicle cells | Low | Enhanced |
| pancreas | exocrine glandular cells | Low | Enhanced |
| placenta | trophoblastic cells | Low | Enhanced |
| rectum | glandular cells | Low | Enhanced |
| salivary gland | glandular cells | Low | Enhanced |
| skin 1 | cells in basal layer | Medium | Enhanced |
| skin 1 | cells in granular layer | High | Enhanced |
| skin 1 | cells in spinous layer | High | Enhanced |
| skin 1 | eccrine glands | Medium | Enhanced |
| skin 1 | langerhans cells | High | Enhanced |
| skin 2 | cells in corneal layer | Medium | Enhanced |
| skin 2 | cells in granular layer | Medium | Enhanced |
| skin 2 | cells in spinous layer | Medium | Enhanced |
| skin 2 | langerhans cells | Medium | Enhanced |
| skin 2 | sebaceous glands | Low | Enhanced |
| stomach 1 | glandular cells | Low | Enhanced |
| tonsil | squamous epithelial cells | Medium | Enhanced |
| urinary bladder | urothelial cells | Low | Enhanced |
| vagina | squamous epithelial cells | High | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| arrhythmogenic right ventricular dysplasia 8 | MONDO:0011831 | I42 | chapter9, Diseases of the circulatory system | OMIM:607450 | |
| skin fragility-woolly hair-palmoplantar keratoderma syndrome | MONDO:0011882 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:607655 | Orphanet:293165 |
| lethal acantholytic epidermolysis bullosa | MONDO:0012323 | Q81 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:609638 | Orphanet:158687 |
| keratosis palmoplantaris striata 2 | MONDO:0013034 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:612908 | |
| severe dermatitis-multiple allergies-metabolic wasting syndrome | MONDO:0014218 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:615508 | Orphanet:369992 |
| cardiomyopathy- dilated- with woolly hair- keratoderma- and tooth agenesis | MONDO:0014355 | I42 | chapter9, Diseases of the circulatory system | OMIM:615821 | |
| familial isolated dilated cardiomyopathy | MONDO:0015470 | I42 | chapter9, Diseases of the circulatory system | Orphanet:154 | |
| familial isolated arrhythmogenic ventricular dysplasia, left dominant form | MONDO:0017401 | I42 | chapter9, Diseases of the circulatory system | Orphanet:293888 | |
| familial isolated arrhythmogenic ventricular dysplasia, biventricular form | MONDO:0017402 | I42 | chapter9, Diseases of the circulatory system | Orphanet:293899 | |
| familial isolated arrhythmogenic ventricular dysplasia, right dominant form | MONDO:0017403 | I42 | chapter9, Diseases of the circulatory system | Orphanet:293910 | |
| erythrokeratodermia-cardiomyopathy syndrome | MONDO:0018774 | I42 | chapter9, Diseases of the circulatory system | Orphanet:476096 | |
| progressive familial heart block | MONDO:0019490 | I45 | chapter9, Diseases of the circulatory system | OMIMPS:113900 | Orphanet:871 |