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 d... See more...

Aliases for DSG1 Gene

Aliases for DSG1 Gene

  • Desmoglein 1 2 3 5
  • CDHF4 2 3 4
  • Pemphigus Foliaceus Antigen 3 4
  • Desmosomal Glycoprotein 1 3 4
  • Cadherin Family Member 4 3 4
  • Desmoglein-1 3 4
  • DG1 3 4
  • EPKHIA 3
  • EPKHE 3
  • PPKS1 3
  • SPPK1 3
  • DSG1 5
  • 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 Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse and Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige. Among its related pathways are Innate Immune System and Apoptotic cleavage of cellular proteins. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DSG1 Gene

Genomics for DSG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DSG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J031240 Promoter/Enhancer 1.7 EPDnew FANTOM5 ENCODE dbSUPER 260.6 -74.6 -74645 5.9 MXD4 CEBPA ZFP64 ZNF217 CTCF HOMEZ KDM6A THAP11 CEBPB CUX1 DSG1 DSC2 piR-57133-275 HSALNG0120725 LOC105372049 lnc-DSG1-8 DSC1
GH18J031318 Promoter 0.3 EPDnew 250.7 0.0 -19 0.1 DSG1 lnc-DSG1-7 DSC1
GH18J031274 Enhancer 1 Ensembl ENCODE 11.5 -42.8 -42759 2.4 CEBPA CEBPB FOXA2 MAFF EP300 KLF7 RXRA ZNF843 KLF9 STAT3 DSG1 DSC2 lnc-DSG1-7 DSC1
GH18J031278 Enhancer 1 Ensembl ENCODE 11.4 -39.3 -39323 1.3 MXD4 CEBPA HOMEZ FOXA2 SMAD4 SAP130 RARA TEAD3 BCL6 JUND DSG1 lnc-DSG1-7 DSC1
GH18J031267 Enhancer 0.9 Ensembl ENCODE 11.5 -49.2 -49152 2.8 BCL11A ZNF513 TRIM22 ZNF843 ZNF146 PRDM6 BATF ZNF24 IKZF1 TCF7 TRAPPC8 DSG1 DSC2 HSALNG0120724 lnc-DSG1-7 DSC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DSG1

Top Transcription factor binding sites by QIAGEN in the DSG1 gene promoter:
  • ATF6
  • Cart-1
  • CP2
  • Evi-1
  • HNF-1A
  • PPAR-alpha
  • RelA
  • S8
  • YY1

Genomic Locations for DSG1 Gene

Latest Assembly
chr18:31,318,160-31,359,246
(GRCh38/hg38)
Size:
41,087 bases
Orientation:
Plus strand

Previous Assembly
chr18:28,898,123-28,939,209
(GRCh37/hg19 by Entrez Gene)
Size:
41,087 bases
Orientation:
Plus strand

chr18:28,898,052-28,936,992
(GRCh37/hg19 by Ensembl)
Size:
38,941 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.
    • (Microbial infection) Interacts with Staphylococcus aureus protein SdrD; this interaction increases S. aureus adherence to keratinocytes.

    Alternative splice isoforms for DSG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSG1 Gene

Post-translational modifications for DSG1 Gene

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

Other Protein References for DSG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DSG1 Gene

Domains & Families for DSG1 Gene

Gene Families for DSG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DSG1 Gene

InterPro:
Blocks:
  • Cadherin
  • Desmosomal cadherin signature
  • Desmoglein signature
ProtoNet:

Suggested Antigen Peptide Sequences for DSG1 Gene

GenScript: Design optimal peptide antigens:
  • Pemphigus foliaceus antigen (DSG1_HUMAN)
  • Desmoglein type 1 (Q712V6_HUMAN)

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.
genes like me logo Genes that share domains with DSG1: view

Function for DSG1 Gene

Molecular function for DSG1 Gene

UniProtKB/Swiss-Prot Function:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
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

Phenotypes From GWAS Catalog for DSG1 Gene

Gene Ontology (GO) - Molecular Function for DSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA,NAS 1770008
GO:0005515 protein binding IPI 19136012
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:
  • Dsg1b Dsg1b<tm1a(KOMP)Wtsi>

miRNA for DSG1 Gene

miRTarBase miRNAs that target DSG1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSG1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DSG1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
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
genes like me logo Genes that share ontologies with DSG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DSG1 Gene

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:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules NAS 1770008
GO:0031424 keratinization TAS --
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 6876

(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 :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSG1

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

No ASD Table

Relevant External Links for DSG1 Gene

GeneLoc Exon Structure for
DSG1

Expression for DSG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for DSG1 Gene



Protein tissue co-expression partners for DSG1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for DSG1 Gene

  • Skin(4.8)
  • Saliva(4.3)
  • Blood(2.6)
  • Kidney(2.5)
  • Heart(2.2)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DSG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • head
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood vessel
  • hair
  • skin
genes like me logo Genes that share expression patterns with DSG1: view

Primer products for research

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 30 31
  • 98.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DSG1 30 31
  • 85.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DSG1 30 31
  • 82.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dsg1a 30 17 31
  • 80.01 (n)
OneToMany
Dsg1c 31
  • 80 (a)
OneToMany
Dsg1b 17 31
  • 78 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Dsg1 30
  • 79.79 (n)
Oppossum
(Monodelphis domestica)
Mammalia DSG1 31
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DSG1 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 49 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 43 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii dsg2l 31
  • 23 (a)
ManyToMany
si:ch73-74h11.1 31
  • 21 (a)
ManyToMany
CABZ01055869.1 31
  • 18 (a)
ManyToMany
Species where no ortholog for DSG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for DSG1: view image

Paralogs for DSG1 Gene

Paralogs for DSG1 Gene

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

  • DSG1_HUMAN
  • B7Z845_HUMAN
  • Q712V6_HUMAN
genes like me logo Genes that share paralogs with DSG1: view

Variants for DSG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSG1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
872391 Pathogenic: not provided 31,328,213(+) C/T
NM_001942.4(DSG1):c.241C>T (p.Gln81Ter)
NONSENSE
872392 Likely Pathogenic: not provided 31,340,022(+) G/A
NM_001942.4(DSG1):c.1684G>A (p.Gly562Arg)
MISSENSE
872393 Pathogenic: not provided 31,354,855(+) C/T
NM_001942.4(DSG1):c.2659C>T (p.Arg887Ter)
NONSENSE
rs1042755 Benign: not provided 31,355,110(+) G/A
NM_001942.4(DSG1):c.2914G>A (p.Gly972Ser)
MISSENSE
rs1057518788 Likely Pathogenic: Hereditary palmoplantar keratoderma; Bicuspid aortic valve 31,331,787(+) G/T
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DSG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for DSG1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for DSG1 Gene

MalaCards: The human disease database

(61) MalaCards diseases for DSG1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- 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
  • 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for DSG1

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

No data available for Genatlas for DSG1 Gene

Publications for DSG1 Gene

  1. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. (PMID: 23974871) Samuelov L … Sprecher E (Nature genetics 2013) 3 4 74
  2. Tunisian endemic pemphigus foliaceus is associated with desmoglein 1 gene polymorphism. (PMID: 12209366) Ayed MB … Tron F (Genes and immunity 2002) 3 23 41
  3. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. (PMID: 10332028) Rickman L … Buxton RS (Human molecular genetics 1999) 3 4 74
  4. 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 RS (Genomics 1991) 2 3 23
  5. The interaction between Staphylococcus aureus SdrD and desmoglein 1 is important for adhesion to host cells. (PMID: 26924733) Askarian F … Johannessen M (Scientific reports 2016) 3 4

Products for DSG1 Gene

Sources for DSG1 Gene