Dsp desmoplakin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dspprovided by MGI
Official Full Name: desmoplakinprovided by MGI
Primary source: MGI:MGI:109611
See related: Ensembl:ENSMUSG00000054889 AllianceGenome:MGI:109611
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DP; rul; 2300002E22Rik; 5730453H04Rik
Summary: Predicted to enable protein kinase C binding activity; scaffold protein binding activity; and structural molecule activity. Involved in several processes, including desmosome organization; intermediate filament organization; and ventricular compact myocardium morphogenesis. Acts upstream of or within several processes, including adherens junction organization; intermediate filament cytoskeleton organization; and skin development. Located in several cellular components, including adherens junction; basolateral plasma membrane; and intercalated disc. Colocalizes with intermediate filament. Is expressed in several structures, including alimentary system; extraembryonic component; genitourinary system; heart; and sensory organ. Used to study Carvajal syndrome and arrhythmogenic right ventricular dysplasia 8. Human ortholog(s) of this gene implicated in Carvajal syndrome; arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 8; dilated cardiomyopathy; and keratosis palmoplantaris striata 2. Orthologous to human DSP (desmoplakin). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in heart adult (RPKM 33.4), placenta adult (RPKM 16.3) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A3.3; 13 18.0 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (38335357..38382553)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (38151294..38198577)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic inactivation of beta-catenin is salubrious, whereas its activation is deleterious in desmoplakin cardiomyopathy.
Title: Genetic inactivation of β-catenin is salubrious, whereas its activation is deleterious in desmoplakin cardiomyopathy.
Keratin7 and Desmoplakin are involved in acute lung injury induced by sepsis through RAGE.
Title: Keratin7 and Desmoplakin are involved in acute lung injury induced by sepsis through RAGE.
Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation.
Title: Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation.
Study indicates that an improperly folded desmoplakin (DSP) plakin repeat domain 2/B diminishes the interaction of DSP with epidermal keratins and desmin that probably leads to cutaneous and cardiac defects, respectively.
Title: A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin.
Deletion of Dsp under the transcriptional regulation of the CSPG4 locus led to phenotype resembling the human cardiocutaneous syndromes.
Title: Distinct Cellular Basis for Early Cardiac Arrhythmias, the Cardinal Manifestation of Arrhythmogenic Cardiomyopathy, and the Skin Phenotype of Cardiocutaneous Syndromes.
Conditional heterozygous deletion of Dsp in mice led to increased fibroadipogenesis in the heart and mild cardiac dysfunction.
Title: Cardiac Fibro-Adipocyte Progenitors Express Desmosome Proteins and Preferentially Differentiate to Adipocytes Upon Deletion of the Desmoplakin Gene.
Our data suggest that endurance exercise accelerates arrhythmogenic ventricular cardiomyopathy pathogenesis in transgenic DSP mice
Title: Accelerated cardiac remodeling in desmoplakin transgenic mice in response to endurance exercise is associated with perturbed Wnt/β-catenin signaling.
GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.
Title: GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.
These data indicate a function of desmoplakin in motor nerve regeneration by linking N-cadherin to intermediate filaments in regenerating motor axons.
Title: Desmoplakin is involved in organization of an adhesion complex in peripheral nerve regeneration after injury.
A loss of desmoplakin expression led to an abnormal distribution of Cx43 and Nav1.5, while scrapeloading dye/transfer revealed a decrease in dye transfer in DSP siRNAtreated cells.
Title: Silencing of desmoplakin decreases connexin43/Nav1.5 expression and sodium current in HL‑1 cardiomyocytes.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Spontaneous (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW109828 (e-PCR)
- UniSTS:180521

LSCV12 (e-PCR)
- UniSTS:27576

LS12 (e-PCR), detects polymorphism
- UniSTS:27576

RH124644 (e-PCR)
- UniSTS:161466

RH125744 (e-PCR)
- UniSTS:162499

Dsp (e-PCR), detects polymorphism
- UniSTS:502741

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase C binding	IEA Inferred from Electronic Annotation more info
enables protein kinase C binding	ISO Inferred from Sequence Orthology more info
enables scaffold protein binding	IEA Inferred from Electronic Annotation more info
enables scaffold protein binding	ISO Inferred from Sequence Orthology more info
enables structural molecule activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within adherens junction organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IEA Inferred from Electronic Annotation more info
involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication	ISO Inferred from Sequence Orthology more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within desmosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in desmosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cell-cell adhesion	ISO Inferred from Sequence Orthology more info	PubMed
involved_in intermediate filament cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intermediate filament cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in keratinocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in peptide cross-linking	ISO Inferred from Sequence Orthology more info
involved_in protein localization to cell-cell junction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate by cardiac conduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate by cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of ventricular cardiac muscle cell action potential	IEA Inferred from Electronic Annotation more info
involved_in regulation of ventricular cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
involved_in skin development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular compact myocardium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	IEA Inferred from Electronic Annotation more info
located_in cornified envelope	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in desmosome	ISO Inferred from Sequence Orthology more info
located_in fascia adherens	IEA Inferred from Electronic Annotation more info
located_in fascia adherens	ISO Inferred from Sequence Orthology more info
is_active_in intercalated disc	IBA Inferred from Biological aspect of Ancestor more info
located_in intercalated disc	IDA Inferred from Direct Assay more info	PubMed
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
colocalizes_with intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with intermediate filament	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: desmoplakin

Names: desmoplakin I/II; desmosomal cytoskeletal connector molecule

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001419597.1 → NP_001406526.1 desmoplakin isoform 2

Status: VALIDATED

Source sequence(s)

AC140331

UniProtKB/TrEMBL

E9PZW0

Related

ENSMUSP00000117252.2, ENSMUST00000127906.8
NM_023842.3 → NP_076331.2 desmoplakin isoform 1

See identical proteins and their annotated locations for NP_076331.2

Status: VALIDATED

Source sequence(s)

AC140331

Consensus CDS

CCDS49239.1

UniProtKB/Swiss-Prot

E9Q557

Related

ENSMUSP00000115062.2, ENSMUST00000124830.3

Conserved Domains (10) summary

PRK01156
Location:719 → 1293

PRK01156; chromosome segregation protein; Provisional

smart00250
Location:2096 → 2133

PLEC; Plectin repeat

cd00176
Location:297 → 462

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00681
Location:2661 → 2700

Plectin; Plectin repeat

pfam10174
Location:1037 → 1686

Cast; RIM-binding protein of the cytomatrix active zone

pfam12761
Location:1519 → 1667

End3; Actin cytoskeleton-regulatory complex protein END3

pfam15742
Location:1510 → 1892

DUF4686; Domain of unknown function (DUF4686)

cd16269
Location:1387 → 1398

GBP_C; coiled coil [structural motif]

cl02488
Location:202 → 378

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl20817
Location:1323 → 1417

GBP_C; Guanylate-binding protein, C-terminal domain