Desmoglein-1

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DSG1
Identifiers
AliasesDSG1, CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1, desmoglein 1
External IDsMGI: 2664357 HomoloGene: 1463 GeneCards: DSG1
Gene location (Human)
Chromosome 18 (human)
Chr.Chromosome 18 (human)[1]
Chromosome 18 (human)
Genomic location for DSG1
Genomic location for DSG1
Band18q12.1Start31,318,160 bp[1]
End31,359,246 bp[1]
RNA expression pattern
PBB GE DSG1 206642 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001942

NM_181682

RefSeq (protein)

NP_001933

NP_859010

Location (UCSC)Chr 18: 31.32 – 31.36 MbChr 18: 20.38 – 20.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Desmoglein-1 is a protein that in humans is encoded by the DSG1 gene.[5][6] Desmoglein-1 is expressed everywhere in the skin epidermis, but mainly it is expressed in the superficial upper layers of the skin epidermis.[7]

Function[edit]

Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein-1 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. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus.[6] It has been found that Desmoglein-1 is the target antigen in majority of the cases linked to IgG/IgA pemphigus, which is an autoimmune IgG/IgA antibody mediated response.[8]

Deficiency of the Desmoglein-1 protein has been found to be associated with increased expression of the for multiple genes encoding allergy related cytokines.[9] Desmoglein-1 is haploinsufficient and a mutation in the gene can cause the autosomal dominant mutation striate palmoplantar keratoderma.[10] Recently, cases have arose where the homozygous loss of the Desmoglein-1 gene has resulted in a rare syndrome known as SAM syndrome - severe dermatitis, multiple allergies, and metabolic wasting.[11]

Interactions[edit]

Desmoglein-1 has been shown to interact with PKP3,[12] PKP2,[13] and PTPRT(PTPrho)[14]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134760 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000061928 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Arnemann J, Spurr NK, Wheeler GN, Parker AE, Buxton RS (July 1991). "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)". Genomics. 10 (3): 640–5. doi:10.1016/0888-7543(91)90446-L. PMID 1889810.
  6. ^ a b "Entrez Gene: DSG1 desmoglein 1".
  7. ^ Beigi, Pooya Khan Mohammad (2018). "Background". A Clinician's Guide to Pemphigus Vulgaris. Springer, Cham. pp. 3–10. doi:10.1007/978-3-319-67759-0_1. ISBN 9783319677583.
  8. ^ "JDDG: Journal der Deutschen Dermatologischen Gesellschaft: Vol 4, No 7". JDDG. 4 (7). July 2006. doi:10.1111/ddg.2006.4.issue-7. ISSN 1610-0379.
  9. ^ Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CS, Wilson NJ, Smith FJ, Pohler E, Simpson MA, McLean WH, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E (October 2013). "Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting". Nature Genetics. 45 (10): 1244–1248. doi:10.1038/ng.2739. PMC 3791825. PMID 23974871.
  10. ^ Has C, Jakob T, He Y, Kiritsi D, Hausser I, Bruckner-Tuderman L (January 2015). "Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies". The British Journal of Dermatology. 172 (1): 257–61. doi:10.1111/bjd.13247. PMID 25041099.
  11. ^ McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WH, Irvine AD (November 2015). "Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin". The Journal of Allergy and Clinical Immunology. 136 (5): 1268–76. doi:10.1016/j.jaci.2015.05.002. PMC 4649901. PMID 26073755.
  12. ^ 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. PMC 2172904. PMID 12707304.
  13. ^ Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ (March 2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". The Journal of Biological Chemistry. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID 11790773.
  14. ^ Besco JA, Hooft van Huijsduijnen R, Frostholm A, Rotter A (October 2006). "Intracellular substrates of brain-enriched receptor protein tyrosine phosphatase rho (RPTPrho/PTPRT)". Brain Research. 1116 (1): 50–7. doi:10.1016/j.brainres.2006.07.122. PMID 16973135.

Further reading[edit]