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
Genetically Related Diseases
interstitial lung disease
Gene ontology Molecular function • protein binding, bridging • 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 • single organismal cell-cell adhesion • 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 Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
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_076331.2 NP_076331
Location (UCSC)	Chr 6: 7.54 – 7.59 Mb	Chr 13: 38.15 – 38.2 Mb
PubMed search

3R6N, 1LM5, 1LM7, 5DZZ

1832

109620

ENSG00000096696

ENSMUSG00000054889

P15924

E9Q557

NM_001008844
NM_004415
NM_001319034

NM_023842

NP_001008844
NP_001305963
NP_004406

NP_076331.2
NP_076331

Desmoplakin is a protein in humans that is encoded by the DSP gene. 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, arrhythmogenic right ventricular cardiomyopathy, striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.

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