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DSP desmoplakin [ Homo sapiens (human) ]

Gene ID: 1832, updated on 12-Aug-2018

Summary

Official Symbol
DSPprovided by HGNC
Official Full Name
desmoplakinprovided by HGNC
Primary source
HGNC:HGNC:3052
See related
Ensembl:ENSG00000096696 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]
Expression
Biased expression in skin (RPKM 438.1), esophagus (RPKM 191.0) and 7 other tissues See more
Orthologs

Genomic context

See DSP in Genome Data Viewer
Location:
6p24.3
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 VISTA enhancer hs2191 Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 48 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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

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

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 BioSystems

  • 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...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
    Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
  • Lung fibrosis, organism-specific biosystem (from WikiPathways)
    Lung fibrosis, organism-specific biosystemLung fibrosis pathway linked to events (molecular initiating event, key events and associative events) in a putative Adverse Outcome Pathway for lung fibrosis.
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
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 
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 IBA
Inferred from Biological aspect of Ancestor
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 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cornification TAS
Traceable Author Statement
more info
 
desmosome organization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
intermediate filament cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermediate filament organization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
keratinization TAS
Traceable Author Statement
more info
 
keratinocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
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 
skin development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ventricular compact myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
wound healing IBA
Inferred from Biological aspect of Ancestor
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 
cornified envelope TAS
Traceable Author Statement
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
desmosome IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
fascia adherens IEA
Inferred from Electronic Annotation
more info
 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
intercalated disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with intermediate filament ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    ENSP00000396591.2, OTTHUMP00000221297, ENST00000418664.2, 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
    ENSP00000369129.3, OTTHUMP00000016001, ENST00000379802.7, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

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