InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DSP

Summary

InnateDB Protein

IDBP-59901.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DSP

Protein Name

desmoplakin

Synonyms

DP; DPI; DPII;

Species

Homo sapiens

Ensembl Protein

ENSP00000369129

InnateDB Gene

IDBG-59899 (DSP)

Protein Structure

UniProt Annotation

Function

Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin- plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.

Subcellular Localization

Cell junction, desmosome {ECO:0000269PubMed:12802069}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:12802069}. Note=Innermost portion of the desmosomal plaque. Colocalizes with epidermal KRT5-KRT14 and simple KRT8-KRT18 keratins and VIM intermediate filaments network.

Disease Associations

Keratoderma, palmoplantar, striate 2 (SPPK2) [MIM:612908]: 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. {ECO:0000269PubMed:9887343}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK) [MIM:605676]: An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy. {ECO:0000269PubMed:11063735}. Note=The disease is caused by mutations affecting the gene represented in this entry.Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]: 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. {ECO:0000269PubMed:12373648, ECO:0000269PubMed:15941723, ECO:0000269PubMed:20031617}. Note=The disease is caused by mutations affecting the gene represented in this entry.Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]: An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia. {ECO:0000269PubMed:11841538}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa, lethal acantholytic (EBLA) [MIM:609638]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides predominantly in tissues and cells of stratified origin.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 72 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	72 [view]
Protein-Protein	71 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005080	protein kinase C binding
GO:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0030674	protein binding, bridging
GO:0044822	poly(A) RNA binding
GO:0050839	cell adhesion molecule binding
GO:0097110	scaffold protein binding

Biological Process

GO:0002934	desmosome organization
GO:0003223	ventricular compact myocardium morphogenesis
GO:0006915	apoptotic process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis
GO:0008544	epidermis development
GO:0016337	single organismal cell-cell adhesion
GO:0018149	peptide cross-linking
GO:0030216	keratinocyte differentiation
GO:0034332	adherens junction organization
GO:0042060	wound healing
GO:0043588	skin development
GO:0045104	intermediate filament cytoskeleton organization
GO:0045109	intermediate filament organization
GO:0071896	protein localization to adherens junction
GO:0086005	ventricular cardiac muscle cell action potential
GO:0086069	bundle of His cell to Purkinje myocyte communication
GO:0086091	regulation of heart rate by cardiac conduction

Cellular Component

GO:0001533	cornified envelope
GO:0005634	nucleus
GO:0005739	mitochondrion
GO:0005856	cytoskeleton
GO:0005882	intermediate filament
GO:0005886	plasma membrane
GO:0005911	cell-cell junction
GO:0005916	fascia adherens
GO:0014704	intercalated disc
GO:0016323	basolateral plasma membrane
GO:0030057	desmosome
GO:0070062	extracellular vesicular exosome