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Aliases for DSG1 Gene

Aliases for DSG1 Gene

  • Desmoglein 1 2 3
  • Pemphigus Foliaceus Antigen 3 4
  • Desmosomal Glycoprotein 1 3 4
  • Cadherin Family Member 4 3 4
  • EPKHE 3 6
  • PPKS1 3 6
  • SPPK1 3 6
  • CDHF4 3 4
  • DG1 3 4
  • Desmoglein-1 3
  • EPKHIA 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 keratosis palmoplantaris striata i, ad and erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige. Among its related pathways are Staphylococcus aureus infection and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include calcium ion binding and toxic substance binding. An important paralog of this gene is CDH13.

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

Genomic Location for DSG1 Gene

Start:
31,318,089 bp from pter
End:
31,357,431 bp from pter
Size:
39,343 bases
Orientation:
Plus strand

Genomic View for DSG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for DSG1 Gene at MOPED

Post-translational modifications for DSG1 Gene

  • Glycosylation at Asn36, Asn110, and Asn180
  • Modification sites at PhosphoSitePlus

Other Protein References for DSG1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for DSG1 Gene

Domains for DSG1 Gene

Gene Families for DSG1 Gene

HGNC:
  • MCDH :Cadherins / Major cadherins

Suggested Antigen Peptide Sequences for DSG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q02413

UniProtKB/Swiss-Prot:

DSG1_HUMAN :
  • Q02413
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:0015643 toxic substance binding NAS 12582396
GO:0045295 gamma-catenin binding IPI 7983064
genes like me logo Genes that share ontologies with DSG1: view

Phenotypes for DSG1 Gene

GenomeRNAi human phenotypes for DSG1:
genes like me logo Genes that share phenotypes with DSG1: view

Animal Model Products

CRISPR Products

miRNA for DSG1 Gene

miRTarBase miRNAs that target DSG1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DSG1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
plasma membrane 5
cytosol 4
cytoskeleton 2
endoplasmic reticulum 2
extracellular 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 --
genes like me logo Genes that share ontologies with DSG1: view

Pathways for DSG1 Gene

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

Pathways by source for DSG1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for DSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS --
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
GO:0007043 cell-cell junction assembly NAS 12485422
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0012501 programmed cell death TAS --
genes like me logo Genes that share ontologies with DSG1: view

Compounds for DSG1 Gene

(1) HMDB Compounds for DSG1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(8) Novoseek inferred chemical compound relationships for DSG1 Gene

Compound -log(P) Hits PubMed IDs
rituximab 49 1
ivig 45.7 5
toxin a 41.6 5
serine 31.9 4
sucrose 0 1
genes like me logo Genes that share compounds with DSG1: view

Transcripts for DSG1 Gene

mRNA/cDNA for DSG1 Gene

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

Unigene Clusters for DSG1 Gene

Desmoglein 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DSG1

Primer Products

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) (25.6) and Skin - Not Sun Exposed (Suprapubic) (19.4).

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, MOPED, and MaxQB for DSG1 Gene

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 expressions with DSG1: view

Expression partners for DSG1 Gene

In Situ Assay 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
cow
(Bos Taurus)
Mammalia DSG1 35
  • 82.77 (n)
  • 80.68 (a)
DSG1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSG1 35
  • 85.57 (n)
  • 84.24 (a)
DSG1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dsg1a 35
  • 80.01 (n)
  • 81.3 (a)
Dsg1a 16
Dsg1a 36
  • 79 (a)
OneToMany
Dsg1b 36
  • 78 (a)
OneToMany
Dsg1c 36
  • 80 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia DSG1 35
  • 98.73 (n)
  • 97.9 (a)
DSG1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dsg1 35
  • 79.79 (n)
  • 80.02 (a)
oppossum
(Monodelphis domestica)
Mammalia DSG1 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSG1 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 43 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CABZ01055869.1 36
  • 18 (a)
ManyToMany
dsg2l 36
  • 23 (a)
ManyToMany
si:ch73-74h11.1 36
  • 21 (a)
ManyToMany
Species with no ortholog for DSG1:
  • 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

Selected 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 MAF
rs765054 -- 31,327,133(+) AGTCA(C/T)CTAGA intron-variant
rs930963 -- 31,335,073(+) CCATA(A/C)GAATG intron-variant
rs930964 -- 31,335,390(+) tgccc(C/T)aaact intron-variant
rs977434 -- 31,325,254(+) AAAGA(A/G)TGACC intron-variant
rs1154850 -- 31,336,992(-) GCTAA(C/T)AAAAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv909516 CNV Gain 21882294
nsv521618 CNV Loss 19592680

Relevant External Links for DSG1 Gene

HapMap Linkage Disequilibrium report
DSG1
Human Gene Mutation Database (HGMD)
DSG1

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

Disorders for DSG1 Gene

(2) OMIM Diseases for DSG1 Gene (125670)

UniProtKB/Swiss-Prot

DSG1_HUMAN
  • 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.
  • 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.

(33) Novoseek inferred disease relationships for DSG1 Gene

Disease -log(P) Hits PubMed IDs
pemphigus foliaceus 98.4 127
pemphigus 97.2 116
pemphigus vulgaris 96.9 95
acantholysis 93.9 15
bullous impetigo 85.1 4

Relevant External Links for DSG1

Genetic Association Database (GAD)
DSG1
Human Genome Epidemiology (HuGE) Navigator
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 23 48
  2. Pathogenicity and epitope characteristics of anti-desmoglein-1 from pemphigus foliaceus patients expressing only IgG1 autoantibodies. (PMID: 14675185) Hacker-Foegen M.K. … Lin M.S. (J. Invest. Dermatol. 2003) 3 23
  3. Tandem arrangement of the closely linked desmoglein genes on human chromosome 18. (PMID: 7790000) Simrak D. … Arnemann J. (Genomics 1995) 3 23
  4. Differential effects of desmoglein 1 and desmoglein 3 on desmosome formation. (PMID: 12485422) Hanakawa Y. … Hashimoto K. (J. Invest. Dermatol. 2002) 3 23
  5. [Characterization of the desmoglein in renal cells in culture]. (PMID: 1754823) MartA-nez R.D. (Rev Alerg Mex 1991) 3 23

Products for DSG1 Gene

Sources for DSG1 Gene

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