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DSP desmoplakin [ Homo sapiens (human) ]

Gene ID: 1832, updated on 27-Nov-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
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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: 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
not available
Arrhythmogenic right ventricular cardiomyopathy not available
Arrhythmogenic right ventricular dysplasia 8 not available
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
MedGen: C4014393 OMIM: 615821 GeneReviews: Not available
not available
Keratosis palmoplantaris striata 2
MedGen: C1852127 OMIM: 612908 GeneReviews: Not available
not available
Lethal acantholytic epidermolysis bullosa
MedGen: C1864826 OMIM: 609638 GeneReviews: Not available
not available

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 cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in desmosome IDA
Inferred from Direct Assay
more info
PubMed 
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, ENST00000418664.3
    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, ENST00000710359.2
    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
    UniProtKB/TrEMBL
    A0AAQ5BH43
    Related
    ENSP00000519209.1, ENST00000713910.1
  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
    UniProtKB/TrEMBL
    A0AAQ5BH40
    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_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)