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    DSP desmoplakin [ Homo sapiens (human) ]

    Gene ID: 1832, updated on 22-Sep-2016
    Official Symbol
    DSPprovided by HGNC
    Official Full Name
    desmoplakinprovided by HGNC
    Primary source
    HGNC:HGNC:3052
    See related
    Ensembl:ENSG00000096696 HPRD:00513; MIM:125647; Vega:OTTHUMG00000014212
    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]
    Orthologs
    Location:
    6p24
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (7541575..7586717)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7541808..7586946)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S26 pseudogene 29 Neighboring gene isocitrate dehydrogenase (NADP(+)) 1, cytosolic pseudogene Neighboring gene uncharacterized LOC101928076 Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 48 Neighboring gene ribosomal protein L29 pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 right ventricular cardiomyopathy, type 8 Compare labs
    Cardiomyopathy dilated with woolly hair and keratoderma
    MedGen: C1854063 OMIM: 605676 GeneReviews: Not available
    Compare labs
    Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
    MedGen: CN221269 OMIM: 615821 GeneReviews: Not available
    Compare labs
    Epidermolysis bullosa, lethal acantholytic
    MedGen: C1864826 OMIM: 609638 GeneReviews: Not available
    Compare labs
    Keratosis palmoplantaris striata II
    MedGen: C1852127 OMIM: 612908 GeneReviews: Not available
    Compare labs
    Skin fragility woolly hair syndrome
    MedGen: C1843292 OMIM: 607655 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2016-01-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated (2016-01-14)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    NHGRI GWA Catalog

    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

    • Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem"Integrins are cell surface heterodimeric protein complex consisting of one alpha and one beta chain. Integrins act as cell adhesion molecules as well as participate in cellular signaling. The ligand...
    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptotic cleavage of cell adhesion proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cell adhesion proteins, organism-specific biosystemApoptotic cells show dramatic rearrangements of tight junctions, adherens junctions, and desmosomes (Abreu et al., 2000). Desmosome-specific members of the cadherin superfamily of cell adhesion mole...
    • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
    • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
      Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
    • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Programmed Cell Death, organism-specific biosystem (from REACTOME)
      Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cell adhesion molecule binding IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication IC
    Inferred by Curator
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding, bridging IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase C binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    structural molecule activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    adherens junction organization IEA
    Inferred from Electronic Annotation
    more info
     
    bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    desmosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    intermediate filament organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    keratinocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ventricular compact myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cornified envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    desmosome IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fascia adherens IEA
    Inferred from Electronic Annotation
    more info
     
    intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with intermediate filament ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    desmoplakin
    Names
    250/210 kDa paraneoplastic pemphigus antigen

    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_001008844.2NP_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, DA339652, J05211, M77830
      Consensus CDS
      CCDS47368.1
      UniProtKB/Swiss-Prot
      P15924
      UniProtKB/TrEMBL
      B4DKX6, Q4LE79
      Related
      ENSP00000396591, OTTHUMP00000221297, ENST00000418664, OTTHUMT00000367313
      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_001319034.1NP_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, DA339652, HM151899
      UniProtKB/Swiss-Prot
      P15924
      UniProtKB/TrEMBL
      B4DKX6
      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_004415.3NP_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, DA339652, J05211, M77830
      Consensus CDS
      CCDS4501.1
      UniProtKB/Swiss-Prot
      P15924
      UniProtKB/TrEMBL
      B4DKX6
      Related
      ENSP00000369129, OTTHUMP00000016001, ENST00000379802, OTTHUMT00000039786
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      7541575..7586717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      7543961..7589110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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