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Aliases for DSP Gene

Aliases for DSP Gene

  • Desmoplakin 2 3
  • 250/210 KDa Paraneoplastic Pemphigus Antigen 3 4
  • DP 3 4
  • Desmoplakin (DPI, DPII) 2
  • Desmoplakin II 3
  • Desmoplakin I 3
  • DCWHKTA 3
  • KPPS2 6
  • PPKS2 6
  • DPII 3
  • DPI 3

External Ids for DSP Gene

Summaries for DSP Gene

Entrez Gene Summary for DSP Gene

  • Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus. [provided by RefSeq, Jul 2008]

GeneCards Summary for DSP Gene

DSP (Desmoplakin) is a Protein Coding gene. Diseases associated with DSP include keratosis palmoplantaris striata ii and cardiomyopathy, dilated, with woolly hair and keratoderma. Among its related pathways are ERK Signaling and Adhesion. GO annotations related to this gene include structural molecule activity and protein binding, bridging. An important paralog of this gene is DST.

UniProtKB/Swiss-Prot for DSP Gene

  • Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes

Gene Wiki entry for DSP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSP Gene

Genomics for DSP Gene

Genomic Location for DSP Gene

Start:
7,541,575 bp from pter
End:
7,586,717 bp from pter
Size:
45,143 bases
Orientation:
Plus strand

Genomic View for DSP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DSP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSP Gene

Regulatory Elements for DSP Gene

Transcription factor binding sites by QIAGEN in the DSP gene promoter:

Proteins for DSP Gene

  • Protein details for DSP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15924-DESP_HUMAN
    Recommended name:
    Desmoplakin
    Protein Accession:
    P15924
    Secondary Accessions:
    • B2RTT2
    • D7RX09
    • O75993
    • Q14189
    • Q9UHN4

    Protein attributes for DSP Gene

    Size:
    2871 amino acids
    Molecular mass:
    331774 Da
    Quaternary structure:
    • Homodimer. Interacts with COL17A1 (via cytoplasmic region). Associates (via C-terminal) with KRT5-KRT14 (via rod region), KRT8-KRT18 and VIM intermediate filaments. Interacts with DSC2. Interacts with PKP2.

    Three dimensional structures from OCA and Proteopedia for DSP Gene

    Alternative splice isoforms for DSP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSP Gene

Proteomics data for DSP Gene at MOPED

Post-translational modifications for DSP Gene

  • Ser-2849 is probably phosphorylated by a cAMP-dependent protein kinase. Phosphorylation on Ser-2849 probably affects its association with epidermal, simple cytokeratins and VIM intermediate filaments
  • Substrate of transglutaminase. Some glutamines and lysines are cross-linked to other desmoplakin molecules, to other proteins such as keratin, envoplakin, periplakin and involucrin, and to lipids like omega-hydroxyceramide (PubMed:9651377).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys94, Lys154, Lys931, and Lys949

Other Protein References for DSP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DSP Gene

Domains for DSP Gene

Protein Domains for DSP Gene

Suggested Antigen Peptide Sequences for DSP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15924

UniProtKB/Swiss-Prot:

DESP_HUMAN
Domain:
  • Its association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of these intermediate filaments proteins and most likely involves recognition sites located in the rod domain of these keratins:
    • P15924
  • The N-terminal region is required for localization to the desmosomal plaque and interacts with the N-terminal region of plakophilin 1:
    • P15924
  • The three tandem plakin repeat regions in the C-terminus mediate binding to intermediate filaments:
    • P15924
  • Contains 1 SH3 domain.:
    • P15924
Family:
  • Belongs to the plakin or cytolinker family.:
    • P15924
Similarity:
  • Contains 17 plectin repeats.:
    • P15924
  • Contains 6 spectrin repeats.:
    • P15924
genes like me logo Genes that share domains with DSP: view

No data available for Gene Families for DSP Gene

Function for DSP Gene

Molecular function for DSP Gene

GENATLAS Biochemistry: desmoplakin DPI/II (desmosomal plaque component),BPAG1 homolog,intermediate filament associated protein (IFAP,type III),plakin family of cell junction proteins
UniProtKB/Swiss-Prot Function: Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes

Gene Ontology (GO) - Molecular Function for DSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005080 protein kinase C binding IPI 18474624
GO:0005198 structural molecule activity IDA 10908733
GO:0005200 structural constituent of cytoskeleton TAS 9887343
GO:0005515 protein binding IPI 10852826
GO:0030674 protein binding, bridging IDA 10908733
genes like me logo Genes that share ontologies with DSP: view
genes like me logo Genes that share phenotypes with DSP: view

Animal Models for DSP Gene

MGI Knock Outs for DSP:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DSP Gene

Localization for DSP Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSP Gene

Cell junction, desmosome. Cytoplasm, cytoskeleton. Note=Innermost portion of the desmosomal plaque. Colocalizes with epidermal KRT5-KRT14 and simple KRT8-KRT18 keratins and VIM intermediate filaments network.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DSP Gene COMPARTMENTS Subcellular localization image for DSP gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
nucleus 3
cytosol 2
extracellular 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for DSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA 10908733
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IEA --
GO:0005856 cytoskeleton --
GO:0005882 colocalizes_with intermediate filament ISS 16917092
genes like me logo Genes that share ontologies with DSP: view

Pathways for DSP Gene

genes like me logo Genes that share pathways with DSP: view

Pathways by source for DSP Gene

Gene Ontology (GO) - Biological Process for DSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002934 desmosome organization ISS 16917092
GO:0003223 ventricular compact myocardium morphogenesis ISS 16917092
GO:0006915 apoptotic process TAS --
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
GO:0008544 epidermis development TAS 9887343
genes like me logo Genes that share ontologies with DSP: view

Compounds for DSP Gene

(15) Novoseek inferred chemical compound relationships for DSP Gene

Compound -log(P) Hits PubMed IDs
asulam 74.1 1
n,n-dimethylformamide 25.9 3
tgf beta1 14.1 1
ryanodine 13.8 1
retinoic acid 13.3 3
genes like me logo Genes that share compounds with DSP: view

Transcripts for DSP Gene

Unigene Clusters for DSP Gene

Desmoplakin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DSP Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a ·
SP1: -
SP2: -
SP3:

ExUns: 23b ^ 24
SP1: -
SP2:
SP3:

Relevant External Links for DSP Gene

GeneLoc Exon Structure for
DSP
ECgene alternative splicing isoforms for
DSP

Expression for DSP Gene

mRNA expression in normal human tissues for DSP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DSP Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (13.4), Skin - Not Sun Exposed (Suprapubic) (11.7), Esophagus - Mucosa (8.2), and Vagina (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DSP Gene

SOURCE GeneReport for Unigene cluster for DSP Gene Hs.519873

mRNA Expression by UniProt/SwissProt for DSP Gene

P15924-DESP_HUMAN
Tissue specificity: Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides predominantly in tissues and cells of stratified origin
genes like me logo Genes that share expressions with DSP: view

Orthologs for DSP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DSP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DSP 35
  • 99.56 (n)
  • 99.72 (a)
DSP 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DSP 35
  • 86.79 (n)
  • 94.5 (a)
DSP 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSP 35
  • 89.35 (n)
  • 95.05 (a)
DSP 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dsp 35
  • 87.88 (n)
  • 95.09 (a)
Dsp 16
Dsp 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DSP 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSP 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dsp 35
  • 88.74 (n)
  • 95.43 (a)
chicken
(Gallus gallus)
Aves DSP 35
  • 74.13 (n)
  • 77.67 (a)
DSP 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSP 36
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24434 35
zebrafish
(Danio rerio)
Actinopterygii dspa 35
  • 54.45 (n)
  • 46.29 (a)
dspa 36
  • 51 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLP2 38
Species with no ortholog for DSP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DSP Gene

ENSEMBL:
Gene Tree for DSP (if available)
TreeFam:
Gene Tree for DSP (if available)

Paralogs for DSP Gene

Paralogs for DSP Gene

Selected SIMAP similar genes for DSP Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DSP: view

Variants for DSP Gene

Sequence variations from dbSNP and Humsavar for DSP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs12250 -- 7,586,075(+) ATAAG(C/T)AGTAC utr-variant-3-prime
rs874646 -- 7,550,458(+) TTTTT(A/G)AAGGT intron-variant
rs926411 -- 7,571,641(+) AAGAA(A/G)GGAGT intron-variant
rs1016835 Benign 7,576,294(+) CCCAG(A/G)TTATG synonymous-codon, reference
rs1049244 -- 7,586,244(+) GGATC(A/C)CTGAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DSP Gene

Variant ID Type Subtype PubMed ID
nsv462623 CNV Gain 19166990
nsv470797 CNV Gain 18288195
nsv883433 CNV Gain 21882294
nsv830580 CNV Gain 17160897
nsv5189 CNV Insertion 18451855
nsv462624 CNV Loss 19166990

Relevant External Links for DSP Gene

HapMap Linkage Disequilibrium report
DSP
Human Gene Mutation Database (HGMD)
DSP
Locus Specific Mutation Databases (LSDB)
DSP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSP Gene

Disorders for DSP Gene

(5) OMIM Diseases for DSP Gene (125647)

UniProtKB/Swiss-Prot

DESP_HUMAN
  • Keratoderma, palmoplantar, striate 2 (SPPK2) [MIM:612908]: A dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present. {ECO:0000269 PubMed:9887343}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK) [MIM:605676]: An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy. {ECO:0000269 PubMed:11063735}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:12373648, ECO:0000269 PubMed:15941723, ECO:0000269 PubMed:20031617}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]: An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia. {ECO:0000269 PubMed:11841538}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa, lethal acantholytic (EBLA) [MIM:609638]: A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) [MIM:615821]: A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia. {ECO:0000269 PubMed:16628197, ECO:0000269 PubMed:20940358, ECO:0000269 PubMed:22795705}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(41) Novoseek inferred disease relationships for DSP Gene

Disease -log(P) Hits PubMed IDs
carvajal syndrome 93.2 5
naxos disease 89.8 5
keratoderma palmoplantar 88.1 16
pemphigus 87.1 14
arrhythmogenic right ventricular dysplasia 86.3 9

Relevant External Links for DSP

GeneTests
DSP
GeneReviews
DSP
Genetic Association Database (GAD)
DSP
Human Genome Epidemiology (HuGE) Navigator
DSP
genes like me logo Genes that share disorders with DSP: view

Publications for DSP Gene

  1. Structure of the human desmoplakins. Implications for function in the desmosomal plaque. (PMID: 1689290) Green K.J. … Nilles L.A. (J. Biol. Chem. 1990) 3 4 23
  2. Molecular structure of the human desmoplakin I and II amino terminus. (PMID: 1731325) Virata M.L.A. … Green K.J. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  3. Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). (PMID: 1889810) Arnemann J. … Buxton R.S. (Genomics 1991) 2 3 23
  4. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. (PMID: 9887343) Armstrong D.K. … Hughes A.E. (Hum. Mol. Genet. 1999) 3 4 23
  5. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. (PMID: 10594734) Whittock N.V. … McGrath J.A. (J. Invest. Dermatol. 1999) 3 4 23

Products for DSP Gene

Sources for DSP Gene

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