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    DSP desmoplakin [ Homo sapiens (human) ]

    Gene ID: 1832, updated on 1-Mar-2024

    Summary

    Official Symbol
    DSPprovided by HGNC
    Official Full Name
    desmoplakinprovided by HGNC
    Primary source
    HGNC:HGNC:3052
    See related
    Ensembl:ENSG00000096696 MIM:125647; AllianceGenome:HGNC:3052
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DP; DCWHKTA
    Summary
    This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in skin (RPKM 438.1), esophagus (RPKM 191.0) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DSP in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (7541671..7586714)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (7410711..7455759)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7541904..7586947)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:7505263-7506462 Neighboring gene ribosomal protein S26 pseudogene 29 Neighboring gene IDH1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7526687-7527188 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:7532914-7533459 Neighboring gene VISTA enhancer hs2285 Neighboring gene DSP antisense RNA 1 Neighboring gene VISTA enhancer hs2191 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7590188-7590927 Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 48 Neighboring gene Sharpr-MPRA regulatory region 13737 Neighboring gene ribosomal protein L29 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in DSP that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
    MedGen: C1854063 OMIM: 605676 GeneReviews: Not available
    Compare labs
    Arrhythmogenic right ventricular cardiomyopathy Compare labs
    Arrhythmogenic right ventricular dysplasia 8 Compare labs
    Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
    MedGen: C4014393 OMIM: 615821 GeneReviews: Not available
    Compare labs
    Keratosis palmoplantaris striata 2
    MedGen: C1852127 OMIM: 612908 GeneReviews: Not available
    Compare labs
    Lethal acantholytic epidermolysis bullosa
    MedGen: C1864826 OMIM: 609638 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-12)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-10-12)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of desmoplakin (DSP) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat The expression of desmoplakin (DSP) gene is upregulated in both Jurkat-Tat101 and Jurkat-Tat72 cells PubMed
    integrase gag-pol HIV-1 IN is identified to have a physical interaction with desmoplakin (DSP) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in adherens junction organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in desmosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within epithelial cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intermediate filament cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intermediate filament organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in keratinocyte differentiation IDA
    Inferred from Direct Assay
    more info
     
    involved_in peptide cross-linking IDA
    Inferred from Direct Assay
    more info
     
    involved_in protein localization to cell-cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skin development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ventricular compact myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in wound healing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cornified envelope IDA
    Inferred from Direct Assay
    more info
     
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in desmosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in fascia adherens IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with intermediate filament ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in nucleus HDA 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 TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    desmoplakin
    Names
    250/210 kDa paraneoplastic pemphigus antigen

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008803.1 RefSeqGene

      Range
      5001..50077
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_423

    mRNA and Protein(s)

    1. NM_001008844.3NP_001008844.1  desmoplakin isoform II

      See identical proteins and their annotated locations for NP_001008844.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting isoform (II) is shorter than isoform I.
      Source sequence(s)
      AI304615, AK296756, AL713599, AL713610, AW890985, BF435232, CN282963, J05211, M77830
      Consensus CDS
      CCDS47368.1
      UniProtKB/TrEMBL
      Q4LE79
      Related
      ENSP00000396591.2, ENST00000418664.2
      Conserved Domains (5) summary
      smart00250
      Location:14851522
      PLEC; Plectin repeat
      cd00176
      Location:285450
      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:17671808
      Plectin; Plectin repeat
      pfam13863
      Location:11591281
      DUF4200; Domain of unknown function (DUF4200)
      pfam14662
      Location:10181202
      KASH_CCD; Coiled-coil region of CCDC155 or KASH
    2. NM_001319034.2NP_001305963.1  desmoplakin isoform Ia

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting isoform (Ia) is shorter than isoform I.
      Source sequence(s)
      AK296756, BF435232, HM151899
      UniProtKB/TrEMBL
      Q4LE79
      Related
      ENSP00000518230.1, ENST00000710359.1
      Conserved Domains (5) summary
      smart00250
      Location:16411678
      PLEC; Plectin repeat
      cd00176
      Location:285450
      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; ...
      TIGR02101
      Location:11821366
      IpaC_SipC; type III secretion target, IpaC/SipC family
      pfam00681
      Location:19231964
      Plectin; Plectin repeat
      pfam14662
      Location:10181206
      KASH_CCD; Coiled-coil region of CCDC155 or KASH
    3. NM_001406591.1NP_001393520.1  desmoplakin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL031058, KF458095
    4. NM_004415.4NP_004406.2  desmoplakin isoform I

      See identical proteins and their annotated locations for NP_004406.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (I).
      Source sequence(s)
      AI304615, AK296756, AL713599, AL713610, AW890985, BF435232, CN282963, J05211, M77830
      Consensus CDS
      CCDS4501.1
      UniProtKB/Swiss-Prot
      B2RTT2, D7RX09, O75993, P15924, Q14189, Q9UHN4
      Related
      ENSP00000369129.3, ENST00000379802.8
      Conserved Domains (10) summary
      smart00250
      Location:20842121
      PLEC; Plectin repeat
      PRK03918
      Location:7701251
      PRK03918; chromosome segregation protein; Provisional
      cd00176
      Location:285450
      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:23662407
      Plectin; Plectin repeat
      pfam09728
      Location:15171832
      Taxilin; Myosin-like coiled-coil protein
      pfam10174
      Location:10251674
      Cast; RIM-binding protein of the cytomatrix active zone
      pfam12761
      Location:15071655
      End3; Actin cytoskeleton-regulatory complex protein END3
      cd16269
      Location:13751386
      GBP_C; coiled coil [structural motif]
      cl02488
      Location:190366
      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:13111405
      GBP_C; Guanylate-binding protein, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      7541671..7586714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      7410711..7455759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)