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Dsp desmoplakin [ Mus musculus (house mouse) ]

Gene ID: 109620, updated on 13-Feb-2024

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 basolateral plasma membrane; desmosome; 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; and dilated cardiomyopathy. Orthologous to human DSP (desmoplakin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart adult (RPKM 33.4), placenta adult (RPKM 16.3) and 14 other tissues See more
Orthologs
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Genomic context

See Dsp in Genome Data Viewer
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_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 52041 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:38086110-38086293 Neighboring gene signal sequence receptor, alpha Neighboring gene STARR-positive B cell enhancer ABC_E9396 Neighboring gene cancer antigen 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:38129215-38129324 Neighboring gene RIO kinase 1 Neighboring gene STARR-seq mESC enhancer starr_34240 Neighboring gene STARR-seq mESC enhancer starr_34241 Neighboring gene STARR-positive B cell enhancer ABC_E3077 Neighboring gene small nuclear ribonucleoprotein 48 (U11/U12) Neighboring gene predicted gene, 40921

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 ISO
Inferred from Sequence Orthology
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 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 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 ISO
Inferred from Sequence Orthology
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 anchoring junction IEA
Inferred from Electronic Annotation
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
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 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

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)

  1. NM_001419597.1NP_001406526.1  desmoplakin isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC140331
    UniProtKB/TrEMBL
    E9PZW0
  2. NM_023842.3NP_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:7191293
    PRK01156; chromosome segregation protein; Provisional
    smart00250
    Location:20962133
    PLEC; Plectin repeat
    cd00176
    Location:297462
    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:26612700
    Plectin; Plectin repeat
    pfam10174
    Location:10371686
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam12761
    Location:15191667
    End3; Actin cytoskeleton-regulatory complex protein END3
    pfam15742
    Location:15101892
    DUF4686; Domain of unknown function (DUF4686)
    cd16269
    Location:13871398
    GBP_C; coiled coil [structural motif]
    cl02488
    Location:202378
    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:13231417
    GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    38335357..38382553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)