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Aliases for DSG1 Gene

Aliases for DSG1 Gene

  • Desmoglein 1 2 3 5
  • Pemphigus Foliaceus Antigen 3 4
  • Desmosomal Glycoprotein 1 3 4
  • Cadherin Family Member 4 3 4
  • CDHF4 3 4
  • DG1 3 4
  • Desmoglein-1 3
  • EPKHIA 3
  • EPKHE 3
  • PPKS1 3
  • SPPK1 3
  • DSG 3
  • DGI 4

External Ids for DSG1 Gene

Previous HGNC Symbols for DSG1 Gene

  • DSG

Previous GeneCards Identifiers for DSG1 Gene

  • GC18P028921
  • GC18P028717
  • GC18P027150
  • GC18P027152
  • GC18P025754

Summaries for DSG1 Gene

Entrez Gene Summary for DSG1 Gene

  • This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]

GeneCards Summary for DSG1 Gene

DSG1 (Desmoglein 1) is a Protein Coding gene. Diseases associated with DSG1 include Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper Ige and Keratosis Palmoplantaris Striata I, Ad. Among its related pathways are Immune System and Regulation of activated PAK-2p34 by proteasome mediated degradation. GO annotations related to this gene include calcium ion binding and toxic substance binding. An important paralog of this gene is DSG4.

UniProtKB/Swiss-Prot for DSG1 Gene

  • Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

Gene Wiki entry for DSG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSG1 Gene

Genomics for DSG1 Gene

Regulatory Elements for DSG1 Gene

Enhancers for DSG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F031274 1 Ensembl ENCODE 11.5 -42.6 -42616 1.6 SOX13 KLF1 INSM2 RAD21 ZNF316 GATA3 ZNF366 KLF7 MAFK NFE2L2 DSG1 LOC105372049
GH18F031267 0.6 ENCODE 11.5 -49.1 -49082 2.8 ZNF146 TBL1XR1 EBF1 RELA ZNF366 EED KLF8 CREM CHD2 MTA2 DSG1 DSC2 LOC105372049
GH18F031278 0.8 ENCODE 11.3 -39.3 -39253 1.3 SOX13 SAP130 ARID4B RAD21 ZNF644 RARA TEAD3 GATAD1 FOXK2 NR2F6 DSG1 LOC105372049
GH18F031363 0.6 FANTOM5 10.9 +45.3 45269 0.0 ZNF384 DSG1 DSG4 RNU6-167P GC18M031346
GH18F031399 0.2 ENCODE 10.7 +82.7 82686 3.5 SOX13 TBP TFAP4 SAP130 FEZF1 THRB RAD21 HBP1 RARA HNF4G RNU6-167P DSG1 DSC2 DSG1-AS1 GC18P031391 PIR43200
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DSG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DSG1 Gene

Chromosome:
18
Start:
31,318,089 bp from pter
End:
31,359,246 bp from pter
Size:
41,158 bases
Orientation:
Plus strand

Genomic View for DSG1 Gene

Genes around DSG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSG1 Gene

Proteins for DSG1 Gene

  • Protein details for DSG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02413-DSG1_HUMAN
    Recommended name:
    Desmoglein-1
    Protein Accession:
    Q02413
    Secondary Accessions:
    • B7Z845

    Protein attributes for DSG1 Gene

    Size:
    1049 amino acids
    Molecular mass:
    113748 Da
    Quaternary structure:
    • Binds to JUP/plakoglobin.

    Alternative splice isoforms for DSG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSG1 Gene

Post-translational modifications for DSG1 Gene

  • Glycosylation at Asn 36, Asn 110, and Asn 180
  • Modification sites at PhosphoSitePlus

Other Protein References for DSG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for DSG1 Gene

Domains & Families for DSG1 Gene

Gene Families for DSG1 Gene

Suggested Antigen Peptide Sequences for DSG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q02413

UniProtKB/Swiss-Prot:

DSG1_HUMAN :
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
Domain:
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
  • Contains 4 cadherin domains.
genes like me logo Genes that share domains with DSG1: view

Function for DSG1 Gene

Molecular function for DSG1 Gene

GENATLAS Biochemistry:
desmoglein 1 (desmosomal glycoprotein, cadherin superfamily of calcium dependent cell-adhesion molecule),pemphigus foliaceus and herpetiform pemphigus autoantigen,mostly expressed in stratified squamous epithelia suprabasal layer
UniProtKB/Swiss-Prot Function:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

Gene Ontology (GO) - Molecular Function for DSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding NAS 1770008
GO:0005515 protein binding IPI 24965446
GO:0015643 toxic substance binding NAS 12582396
GO:0045295 gamma-catenin binding IPI 7983064
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DSG1: view
genes like me logo Genes that share phenotypes with DSG1: view

Human Phenotype Ontology for DSG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DSG1 Gene

MGI Knock Outs for DSG1:

Animal Model Products

miRNA for DSG1 Gene

miRTarBase miRNAs that target DSG1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DSG1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DSG1 Gene

Localization for DSG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSG1 Gene

Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DSG1 Gene COMPARTMENTS Subcellular localization image for DSG1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 4
cytoskeleton 2
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for DSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005911 colocalizes_with cell-cell junction IDA 7983064
GO:0009898 cytoplasmic side of plasma membrane IDA 7983064
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DSG1: view

Pathways & Interactions for DSG1 Gene

genes like me logo Genes that share pathways with DSG1: view

Gene Ontology (GO) - Biological Process for DSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007043 cell-cell junction assembly NAS 12485422
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0016337 single organismal cell-cell adhesion NAS 1711210
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules NAS 1770008
genes like me logo Genes that share ontologies with DSG1: view

No data available for SIGNOR curated interactions for DSG1 Gene

Drugs & Compounds for DSG1 Gene

(5) Drugs for DSG1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(3) Additional Compounds for DSG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DSG1: view

Transcripts for DSG1 Gene

mRNA/cDNA for DSG1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(44) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DSG1 Gene

Desmoglein 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DSG1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DSG1 Gene

No ASD Table

Relevant External Links for DSG1 Gene

GeneLoc Exon Structure for
DSG1
ECgene alternative splicing isoforms for
DSG1

Expression for DSG1 Gene

mRNA expression in normal human tissues for DSG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DSG1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x25.6) and Skin - Not Sun Exposed (Suprapubic) (x19.4).

Protein differential expression in normal tissues from HIPED for DSG1 Gene

This gene is overexpressed in Urinary Bladder (18.7), Cerebrospinal fluid (13.0), and Hair follicle (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DSG1 Gene



Protein tissue co-expression partners for DSG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DSG1 Gene:

DSG1

SOURCE GeneReport for Unigene cluster for DSG1 Gene:

Hs.2633

mRNA Expression by UniProt/SwissProt for DSG1 Gene:

Q02413-DSG1_HUMAN
Tissue specificity: Epidermis, tongue, tonsil and esophagus.
genes like me logo Genes that share expression patterns with DSG1: view

Primer Products

Orthologs for DSG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DSG1 34 35
  • 98.73 (n)
dog
(Canis familiaris)
Mammalia DSG1 34 35
  • 85.57 (n)
cow
(Bos Taurus)
Mammalia DSG1 34 35
  • 82.77 (n)
mouse
(Mus musculus)
Mammalia Dsg1a 34 35
  • 80.01 (n)
Dsg1c 35
  • 80 (a)
OneToMany
Dsg1b 16 35
  • 78 (a)
rat
(Rattus norvegicus)
Mammalia Dsg1 34
  • 79.79 (n)
oppossum
(Monodelphis domestica)
Mammalia DSG1 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSG1 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 43 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii dsg2l 35
  • 23 (a)
ManyToMany
si:ch73-74h11.1 35
  • 21 (a)
ManyToMany
CABZ01055869.1 35
  • 18 (a)
ManyToMany
Species where no ortholog for DSG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 DSG1 Gene

ENSEMBL:
Gene Tree for DSG1 (if available)
TreeFam:
Gene Tree for DSG1 (if available)

Paralogs for DSG1 Gene

Paralogs for DSG1 Gene

(4) SIMAP similar genes for DSG1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DSG1: view

Variants for DSG1 Gene

Sequence variations from dbSNP and Humsavar for DSG1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs397515639 Pathogenic 31,326,608(+) AATTC(C/T)GAATC reference, stop-gained
rs397515640 Pathogenic 31,331,784(+) TAAGA(C/T)AAGAA reference, stop-gained
rs397515641 Pathogenic 31,329,949(+) AGCTC(A/T)GAGTC reference, stop-gained
rs398122400 Pathogenic 31,343,965(+) ATAAC(-/G)CAAAT intron-variant, reference, frameshift-variant
rs398122949 Pathogenic 31,336,427(+) CATTC(-/C)AATTA reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for DSG1 Gene

Variant ID Type Subtype PubMed ID
nsv521618 CNV loss 19592680
nsv952697 CNV duplication 24416366

Variation tolerance for DSG1 Gene

Residual Variation Intolerance Score: 91.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.39; 92.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DSG1 Gene

Human Gene Mutation Database (HGMD)
DSG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSG1 Gene

Disorders for DSG1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for DSG1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige
  • erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
keratosis palmoplantaris striata i, ad
  • palmoplantar keratoderma i, striate, focal, or diffuse
keratosis palmoplantaris striata
  • keratosis palmoplantaris striata et areata
pemphigus foliaceus
  • pf
pemphigus
- elite association - COSMIC cancer census association via MalaCards
Search DSG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DSG1_HUMAN
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE) [MIM:615508]: A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting. {ECO:0000269 PubMed:23974871}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1) [MIM:148700]: A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger. {ECO:0000269 PubMed:10332028}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DSG1

Genetic Association Database (GAD)
DSG1
Human Genome Epidemiology (HuGE) Navigator
DSG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSG1
genes like me logo Genes that share disorders with DSG1: view

No data available for Genatlas for DSG1 Gene

Publications for DSG1 Gene

  1. Tunisian endemic pemphigus foliaceus is associated with desmoglein 1 gene polymorphism. (PMID: 12209366) Ayed M.B. … Tron F. (Genes Immun. 2002) 3 22 46 64
  2. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. (PMID: 23974871) Samuelov L. … Sprecher E. (Nat. Genet. 2013) 3 4 64
  3. Common variants at 5q22 associate with pediatric eosinophilic esophagitis. (PMID: 20208534) Rothenberg M.E. … Hakonarson H. (Nat. Genet. 2010) 3 46 64
  4. Bidimensional analysis of desmoglein 1 distribution on the outermost corneocytes provides the structural and functional information of the stratum corneum. (PMID: 20116975) Naoe Y. … Masunaga T. (J. Dermatol. Sci. 2010) 3 22 64
  5. Novel mutations in DSG1 causing striate palmoplantar keratoderma. (PMID: 19018793) Hershkovitz D. … Sprecher E. (Clin. Exp. Dermatol. 2009) 3 22 64

Products for DSG1 Gene

Sources for DSG1 Gene

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