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    Dsp desmoplakin [ Mus musculus (house mouse) ]

    Gene ID: 109620, updated on 9-Dec-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 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
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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

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding PubMed 
    enables protein kinase C binding  
    enables protein kinase C binding  
    enables scaffold protein binding  
    enables scaffold protein binding  
    enables structural molecule activity  
    Process Evidence Code Pubs
    acts_upstream_of_or_within adherens junction organization PubMed 
    involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication  
    involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication  
    involved_in cell-cell adhesion  
    acts_upstream_of_or_within cell-cell adhesion PubMed 
    acts_upstream_of_or_within desmosome organization PubMed 
    involved_in desmosome organization PubMed 
    acts_upstream_of_or_within epithelial cell-cell adhesion PubMed 
    involved_in intermediate filament cytoskeleton organization  
    acts_upstream_of_or_within intermediate filament cytoskeleton organization PubMed 
    involved_in intermediate filament organization PubMed 
    involved_in keratinocyte differentiation  
    involved_in keratinocyte differentiation  
    involved_in peptide cross-linking  
    involved_in protein localization to cell-cell junction PubMed 
    involved_in regulation of heart rate by cardiac conduction  
    involved_in regulation of heart rate by cardiac conduction  
    involved_in regulation of ventricular cardiac muscle cell action potential  
    involved_in regulation of ventricular cardiac muscle cell action potential  
    involved_in skin development  
    acts_upstream_of_or_within skin development PubMed 
    involved_in ventricular compact myocardium morphogenesis PubMed 
    involved_in wound healing  
    Component Evidence Code Pubs
    located_in adherens junction PubMed 
    located_in basolateral plasma membrane PubMed 
    located_in cell-cell junction PubMed 
    located_in cornified envelope  
    located_in cornified envelope  
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in desmosome PubMed 
    located_in desmosome  
    located_in fascia adherens  
    located_in fascia adherens  
    is_active_in intercalated disc  
    located_in intercalated disc PubMed 
    located_in intercalated disc  
    colocalizes_with intermediate filament  
    colocalizes_with intermediate filament PubMed 
    located_in membrane PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  

    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
      Related
      ENSMUSP00000117252.2, ENSMUST00000127906.8
    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)
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