Desmoplakin

DSP
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3R6N, 1LM5, 1LM7, 5DZZ
Identifiers
Aliases	DSP, DCWHKTA, DP, DPI, DPII, desmoplakin
External IDs	OMIM: 125647; MGI: 109611; HomoloGene: 37922; GeneCards: DSP; OMA:DSP - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p24.3 Start 7,541,617 bp[1] End 7,586,714 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 A3.3 Start 38,335,270 bp[2] End 38,382,553 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of hip skin of thigh hair follicle gingival epithelium human penis vulva skin of arm oral cavity nipple mucosa of pharynx Top expressed in conjunctival fornix skin of external ear corneal stroma epidermis hair follicle skin of back ascending aorta myocardium of ventricle aortic valve cardiac muscle tissue of left ventricle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-macromolecule adaptor activity scaffold protein binding structural molecule activity structural constituent of cytoskeleton protein binding cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication cell adhesion molecule binding protein kinase C binding RNA binding Cellular component cytoplasm membrane intercalated disc cell-cell junction plasma membrane desmosome cell junction basolateral plasma membrane fascia adherens extracellular exosome cytoskeleton intermediate filament nucleus extracellular matrix cornified envelope ficolin-1-rich granule membrane Biological process intermediate filament organization desmosome organization ventricular compact myocardium morphogenesis wound healing bundle of His cell-Purkinje myocyte adhesion involved in cell communication keratinocyte differentiation peptide cross-linking protein localization to adherens junction epidermis development intermediate filament cytoskeleton organization adherens junction organization regulation of heart rate by cardiac conduction regulation of ventricular cardiac muscle cell action potential skin development keratinization neutrophil degranulation cornification cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1832 109620 Ensembl ENSG00000096696 ENSMUSG00000054889 UniProt P15924 E9Q557 RefSeq (mRNA) NM_001008844 NM_004415 NM_001319034 NM_023842 RefSeq (protein) NP_001008844 NP_001305963 NP_004406 NP_076331 Location (UCSC) Chr 6: 7.54 – 7.59 Mb Chr 13: 38.34 – 38.38 Mb PubMed search [3] [4]
Wikidata
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Desmoplakin is a protein in humans that is encoded by the DSP gene.^[5][6][7] Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, where it may present with acute myocardial injury;^[8][9] striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.