Desmoglein-3

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DSG3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDSG3, CDHF6, PVA, desmoglein 3
External IDsOMIM: 169615 MGI: 99499 HomoloGene: 55513 GeneCards: DSG3
Gene location (Human)
Chromosome 18 (human)
Chr.Chromosome 18 (human)[1]
Chromosome 18 (human)
Genomic location for DSG3
Genomic location for DSG3
Band18q12.1Start31,447,741 bp[1]
End31,478,702 bp[1]
RNA expression pattern
PBB GE DSG3 205595 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001944

NM_030596

RefSeq (protein)

NP_001935

NP_085099

Location (UCSC)Chr 18: 31.45 – 31.48 MbChr 18: 20.51 – 20.55 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Desmoglein-3 is a protein that in humans is encoded by the DSG3 gene.[5][6] In the skin epidermis Desmoglein-3 is expressed in the basal lower layers of the epidermis, and dominates in terms of expression on mucosal surfaces compared to Desmoglein-1.[7]

Function[edit]

Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. Desmoglein 3 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, four desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This protein, along with Desmoglein-1, has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus vulgaris.[8] The mucosal dominant form of pemphigus vulgaris only involves antibodies against Desmoglein-3 and causes mucosal erosions, but no skin lesions.[7] Desmoglein-3 serves as a prognostic marker of Esophageal Squamous Cell Carcinoma (ESCC), and may even be involved in the progression of ESCC.[9]

Pathogenicity[edit]

Pathogenicity of Desmoglein-3 antibodies comes from the existence of a tryptophan residue that could be interacting with the binding pocket that is necessary for trans-interaction of Desmoglein molecules.[10] Such antibodies can lead to the cause of skin disorders like pemphigus vulgaris.

Interactions[edit]

Desmoglein 3 has been shown to interact with PKP3.[11]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134757 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056632 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Arnemann J, Spurr NK, Buxton RS (May 1992). "The human gene (DSG3) coding for the pemphigus vulgaris antigen is, like the genes coding for the other two known desmogleins, assigned to chromosome 18". Human Genetics. 89 (3): 347–50. doi:10.1007/bf00220557. PMID 1601426.
  6. ^ "Entrez Gene: DSG3 desmoglein 3 (pemphigus vulgaris antigen)".
  7. ^ a b Beigi PK (2018). A Clinician's Guide to Pemphigus Vulgaris. Springer, Cham. pp. 3–10. doi:10.1007/978-3-319-67759-0_1. ISBN 9783319677583.
  8. ^ Hartlieb E, Kempf B, Partilla M, Vigh B, Spindler V, Waschke J (2013-01-11). "Desmoglein 2 is less important than desmoglein 3 for keratinocyte cohesion". PLOS One. 8 (1): e53739. doi:10.1371/journal.pone.0053739. PMID 23326495.
  9. ^ Fang WK, Gu W, Liao LD, Chen B, Wu ZY, Wu JY, Shen J, Xu LY, Li EM (2014). "Prognostic significance of desmoglein 2 and desmoglein 3 in esophageal squamous cell carcinoma". Asian Pacific Journal of Cancer Prevention. 15 (2): 871–6. doi:10.7314/apjcp.2014.15.2.871. PMID 24568510.
  10. ^ Spindler V, Rötzer V, Dehner C, Kempf B, Gliem M, Radeva M, Hartlieb E, Harms GS, Schmidt E, Waschke J (February 2013). "Peptide-mediated desmoglein 3 crosslinking prevents pemphigus vulgaris autoantibody-induced skin blistering". The Journal of Clinical Investigation. 123 (2): 800–11. doi:10.1172/jci60139. PMC 3561799. PMID 23298835.
  11. ^ Bonné S, Gilbert B, Hatzfeld M, Chen X, Green KJ, van Roy F (April 2003). "Defining desmosomal plakophilin-3 interactions". The Journal of Cell Biology. 161 (2): 403–16. doi:10.1083/jcb.200303036. hdl:1854/LU-210987. PMC 2172904. PMID 12707304.

Further reading[edit]