Version 5.4
Homo sapiens Gene: DSP
Summary
InnateDB Gene IDBG-59899.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DSP
Gene Name desmoplakin
Synonyms DP; DPI; DPII
Species Homo sapiens
Ensembl Gene ENSG00000096696
Encoded Proteins
IDBP-59901
desmoplakin
IDBP-361728
desmoplakin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:7541575-7586717
Strand Forward strand
Band p24.3
Transcripts
ENST00000379802 ENSP00000369129
ENST00000418664 ENSP00000396591
ENST00000506617
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000054889
View Gene Order
ENSBTAG00000015106
Not yet available
Pathways
NETPATH
NetPath_1
Alpha6Beta4Integrin pathway
NetPath_4
EGFR1 pathway
REACTOME
REACT_13579
Apoptotic cleavage of cell adhesion proteins pathway
REACT_107
Apoptotic cleavage of cellular proteins pathway
REACT_995
Apoptotic execution phase pathway
REACT_578
Apoptosis pathway
KEGG
hsa05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
INOH
PID NCI
ajdiss_2pathway
Posttranslational regulation of adherens junction stability and dissassembly
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.519873 Hs.702582
RefSeq NM_001008844 NM_004415
HUGO
OMIM
CCDS CCDS4501 CCDS47368
HPRD 00513
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca