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    DSP desmoplakin [ Homo sapiens (human) ]

    Gene ID: 1832, updated on 4-Jan-2025

    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
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    Genomic context

    See DSP in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (7541671..7586714)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (7410711..7455759)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (18 hits/1274 screens)

    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

    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

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in adherens junction organization  
    involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication PubMed 
    involved_in cell-cell adhesion  
    involved_in desmosome organization PubMed 
    involved_in epidermis development PubMed 
    acts_upstream_of_or_within epithelial cell-cell adhesion PubMed 
    involved_in intermediate filament cytoskeleton organization  
    involved_in intermediate filament organization PubMed 
    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 PubMed 
    involved_in regulation of ventricular cardiac muscle cell action potential PubMed 
    involved_in skin development  
    involved_in ventricular compact myocardium morphogenesis PubMed 
    involved_in wound healing  
    Component Evidence Code Pubs
    located_in adherens junction  
    located_in basolateral plasma membrane  
    located_in cornified envelope  
    located_in cornified envelope  
    is_active_in cytoplasm  
    located_in cytoplasm  
    located_in desmosome PubMed 
    located_in desmosome  
    located_in extracellular exosome PubMed 
    located_in fascia adherens  
    located_in ficolin-1-rich granule membrane  
    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 nucleus PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  

    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_001008844.3 → NP_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, ENST00000418664.3
      Conserved Domains (5) summary
      smart00250
      Location:1485 → 1522
      PLEC; Plectin repeat
      cd00176
      Location:285 → 450
      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:1767 → 1808
      Plectin; Plectin repeat
      pfam13863
      Location:1159 → 1281
      DUF4200; Domain of unknown function (DUF4200)
      pfam14662
      Location:1018 → 1202
      KASH_CCD; Coiled-coil region of CCDC155 or KASH
    2. NM_001319034.2 → NP_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, ENST00000710359.2
      Conserved Domains (5) summary
      smart00250
      Location:1641 → 1678
      PLEC; Plectin repeat
      cd00176
      Location:285 → 450
      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:1182 → 1366
      IpaC_SipC; type III secretion target, IpaC/SipC family
      pfam00681
      Location:1923 → 1964
      Plectin; Plectin repeat
      pfam14662
      Location:1018 → 1206
      KASH_CCD; Coiled-coil region of CCDC155 or KASH
    3. NM_001406591.1 → NP_001393520.1  desmoplakin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL031058, KF458095
      UniProtKB/TrEMBL
      A0AAQ5BH43
      Related
      ENSP00000519209.1, ENST00000713910.1
    4. NM_004415.4 → NP_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
      UniProtKB/TrEMBL
      A0AAQ5BH40
      Related
      ENSP00000369129.3, ENST00000379802.8
      Conserved Domains (10) summary
      smart00250
      Location:2084 → 2121
      PLEC; Plectin repeat
      PRK03918
      Location:770 → 1251
      PRK03918; chromosome segregation protein; Provisional
      cd00176
      Location:285 → 450
      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:2366 → 2407
      Plectin; Plectin repeat
      pfam09728
      Location:1517 → 1832
      Taxilin; Myosin-like coiled-coil protein
      pfam10174
      Location:1025 → 1674
      Cast; RIM-binding protein of the cytomatrix active zone
      pfam12761
      Location:1507 → 1655
      End3; Actin cytoskeleton-regulatory complex protein END3
      cd16269
      Location:1375 → 1386
      GBP_C; coiled coil [structural motif]
      cl02488
      Location:190 → 366
      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:1311 → 1405
      GBP_C; Guanylate-binding protein, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
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