Human Gene DSG1 (ENST00000257192.5_4) from GENCODE V47lift37
  Description: desmoglein 1 (from RefSeq NM_001942.4)
Gencode Transcript: ENST00000257192.5_4
Gencode Gene: ENSG00000134760.6_7
Transcript (Including UTRs)
   Position: hg19 chr18:28,898,123-28,939,209 Size: 41,087 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr18:28,898,264-28,935,309 Size: 37,046 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:28,898,123-28,939,209)mRNA (may differ from genome)Protein (1049 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Human Cortex Gene ExpressionMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DSG1_HUMAN
DESCRIPTION: RecName: Full=Desmoglein-1; AltName: Full=Cadherin family member 4; AltName: Full=Desmosomal glycoprotein 1; Short=DG1; Short=DGI; AltName: Full=Pemphigus foliaceus antigen; Flags: Precursor;
FUNCTION: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
SUBUNIT: Binds to JUP/plakoglobin.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, desmosome.
TISSUE SPECIFICITY: Epidermis, tongue, tonsil and esophagus.
DOMAIN: Calcium may be bound by the cadherin-like repeats (Potential).
DISEASE: Defects in DSG1 are the cause of palmoplantar keratoderma striate type 1 (SPPK1) [MIM:148700]; also known as keratosis palmoplantaris striata I. SPPK1 is a dermatoligical 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.
SIMILARITY: Contains 4 cadherin domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DSG1
Diseases sorted by gene-association score: erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige* (1370), keratosis palmoplantaris striata i, ad* (1350), striate palmoplantar keratoderma* (369), pemphigus foliaceus (64), pemphigus (51), bullous impetigo (29), ritter's disease (28), herpetiform pemphigus (28), impetigo (25), pemphigus vulgaris (24), subcorneal pustular dermatosis (20), pemphigus vegetans (19), skin disease (18), bullous skin disease (17), bullous pemphigoid (16), multiple self-healing squamous epithelioma (13), dermatitis (10), netherton syndrome (10), palmoplantar keratosis (10), silicosis (9), autoimmune disease of skin and connective tissue (9), paraneoplastic pemphigus (8), hailey-hailey disease (8), keratoacanthoma (8), nodular malignant melanoma (7), occupational dermatitis (6), esophagitis (6), deafness, autosomal dominant 28 (6), commensal bacterial infectious disease (5), lichen disease (5), esophagitis, eosinophilic, 1 (5), hypersensitivity reaction type ii disease (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 204.58 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 399.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.07141-0.157 Picture PostScript Text
3' UTR -826.603900-0.212 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002126 - Cadherin
IPR015919 - Cadherin-like
IPR020894 - Cadherin_CS
IPR000233 - Cadherin_cytoplasmic-dom
IPR009122 - Desmo_cadherin
IPR009123 - Desmoglein

Pfam Domains:
PF00028 - Cadherin domain
PF01049 - Cadherin cytoplasmic region

SCOP Domains:
49313 - Cadherin-like
69304 - Tricorn protease N-terminal domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50998 - Quinoprotein alcohol dehydrogenase-like

ModBase Predicted Comparative 3D Structure on Q02413
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0015643 toxic substance binding
GO:0045295 gamma-catenin binding
GO:0046872 metal ion binding

Biological Process:
GO:0007043 cell-cell junction assembly
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0031424 keratinization
GO:0032570 response to progesterone
GO:0043312 neutrophil degranulation
GO:0050821 protein stabilization
GO:0060135 maternal process involved in female pregnancy
GO:0070268 cornification
GO:0098609 cell-cell adhesion

Cellular Component:
GO:0001533 cornified envelope
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0009898 cytoplasmic side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma membrane
GO:0030054 cell junction
GO:0030057 desmosome
GO:0101003 ficolin-1-rich granule membrane
GO:0005911 cell-cell junction


-  Descriptions from all associated GenBank mRNAs
  AF097935 - Homo sapiens desmoglein 1 (DSG1) mRNA, complete cds.
JD038566 - Sequence 19590 from Patent EP1572962.
X56654 - Human DSG1 mRNA for desmoglein type 1.
JD274230 - Sequence 255254 from Patent EP1572962.
JD207415 - Sequence 188439 from Patent EP1572962.
AB591022 - Synthetic construct DNA, clone: pFN21AB7344, Homo sapiens DSG1 gene for desmoglein 1, without stop codon, in Flexi system.
BC148374 - Synthetic construct Homo sapiens clone IMAGE:100015331, MGC:182994 desmoglein 1 (DSG1) mRNA, encodes complete protein.
BC153001 - Synthetic construct Homo sapiens clone IMAGE:100016255, MGC:184251 desmoglein 1 (DSG1) mRNA, encodes complete protein.
AK302888 - Homo sapiens cDNA FLJ50928 complete cds, highly similar to Desmoglein-1 precursor.
JD082455 - Sequence 63479 from Patent EP1572962.
JD237205 - Sequence 218229 from Patent EP1572962.
JD533031 - Sequence 514055 from Patent EP1572962.
JD541734 - Sequence 522758 from Patent EP1572962.
JD092674 - Sequence 73698 from Patent EP1572962.
JD350290 - Sequence 331314 from Patent EP1572962.
JD301483 - Sequence 282507 from Patent EP1572962.
AF088042 - Homo sapiens full length insert cDNA clone ZD58B12.
JD473329 - Sequence 454353 from Patent EP1572962.
JD049015 - Sequence 30039 from Patent EP1572962.
JD381758 - Sequence 362782 from Patent EP1572962.
JD286306 - Sequence 267330 from Patent EP1572962.
JD087936 - Sequence 68960 from Patent EP1572962.
JD093181 - Sequence 74205 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q02413 (Reactome details) participates in the following event(s):

R-HSA-202917 Caspase-mediated cleavage of Desmoglein 1
R-HSA-6800426 Exocytosis of ficolin-rich granule membrane proteins
R-HSA-6809393 Keratin filaments bind cell-cell adhesion complexes
R-HSA-6814695 PERP binds desmosomes
R-HSA-8942224 Filaggrin binds Keratin tonofilament:Desmosome
R-HSA-351906 Apoptotic cleavage of cell adhesion proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-111465 Apoptotic cleavage of cellular proteins
R-HSA-168249 Innate Immune System
R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope
R-HSA-75153 Apoptotic execution phase
R-HSA-168256 Immune System
R-HSA-1266738 Developmental Biology
R-HSA-109581 Apoptosis
R-HSA-5357801 Programmed Cell Death

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z845, CDHF4, DSG1_HUMAN, ENST00000257192.1, ENST00000257192.2, ENST00000257192.3, ENST00000257192.4, NM_001942, Q02413, uc317fxj.1, uc317fxj.2
UCSC ID: ENST00000257192.5_4
RefSeq Accession: NM_001942.4
Protein: Q02413 (aka DSG1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.