Desmoglein-1

Desmoglein 1
Identifiers
Symbols	DSG1 ; CDHF4; DG1; DSG; EPKHE; EPKHIA; PPKS1; SPPK1
External IDs	OMIM: 125670 MGI: 94930 HomoloGene: 1463 GeneCards: DSG1 Gene
Gene ontology Molecular function • calcium ion binding • toxic substance binding • gamma-catenin binding Cellular component • cytosol • plasma membrane • cell-cell junction • cytoplasmic side of plasma membrane • integral component of membrane • apical plasma membrane • lateral plasma membrane • desmosome • extracellular exosome Biological process • apoptotic process • cellular component disassembly involved in execution phase of apoptosis • cell-cell junction assembly • homophilic cell adhesion via plasma membrane adhesion molecules • programmed cell death • single organismal cell-cell adhesion • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules • response to progesterone • protein stabilization • maternal process involved in female pregnancy Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1828	13510
Ensembl	ENSG00000134760	ENSMUSG00000069441
UniProt	Q02413	Q61495
RefSeq (mRNA)	NM_001942	NM_010079
RefSeq (protein)	NP_001933	NP_034209
Location (UCSC)	Chr 18: 31.32 – 31.36 Mb	Chr 18: 20.31 – 20.34 Mb
PubMed search

Desmoglein-1 is a protein that in humans is encoded by the DSG1 gene.^[1][2]

Function

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.^[2]

Interactions

Desmoglein-1 has been shown to interact with PKP3,^[3] PKP2,^[4] and PTPRT(PTPrho)^[5]

See also

• Desmoglein
• List of target antigens in pemphigus
• List of conditions caused by problems with junctional proteins

References

1. Arnemann J, Spurr NK, Wheeler GN, Parker AE, Buxton RS (Oct 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.
2. "Entrez Gene: DSG1 desmoglein 1".
3. Bonné S, Gilbert B, Hatzfeld M, Chen X, Green KJ, van Roy F (April 2003). "Defining desmosomal plakophilin-3 interactions". J. Cell Biol. 161 (2): 403–16. doi:10.1083/jcb.200303036. PMC 2172904. PMID 12707304.
4. 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". J. Biol. Chem. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID 11790773.
5. Besco JA, Hooft van Huijsduijnen R, Frostholm A, Rotter A (2006). "Intracellular substrates of brain-enriched receptor protein tyrosine phosphatase rho (RPTPrho/PTPRT).". Brain Res 1116 (1): 50–7. doi:10.1016/j.brainres.2006.07.122. PMID 16973135.

Further reading

• Amagai M (2003). "Desmoglein as a target in autoimmunity and infection". J. Am. Acad. Dermatol. 48 (2): 244–52. doi:10.1067/mjd.2003.7. PMID 12582396.
• Wheeler GN, Parker AE, Thomas CL (1991). "Desmosomal glycoprotein DGI, a component of intercellular desmosome junctions, is related to the cadherin family of cell adhesion molecules". Proc. Natl. Acad. Sci. U.S.A. 88 (11): 4796–800. doi:10.1073/pnas.88.11.4796. PMC 51753. PMID 1711210.
• Amagai M, Klaus-Kovtun V, Stanley JR (1992). "Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion". Cell 67 (5): 869–77. doi:10.1016/0092-8674(91)90360-B. PMID 1720352.
• Martínez RD (1992). "[Characterization of the desmoglein in renal cells in culture]" [Characterization of the desmoglein in renal cells in culture]. Revista alergia México (in Spanish) 38 (2): 59–64. PMID 1754823.
• Nilles LA, Parry DA, Powers EE (1992). "Structural analysis and expression of human desmoglein: a cadherin-like component of the desmosome". J. Cell. Sci. 99 (4): 809–21. PMID 1770008.
• Roh JY, Stanley JR (1995). "Plakoglobin binding by human Dsg3 (pemphigus vulgaris antigen) in keratinocytes requires the cadherin-like intracytoplasmic segment". J. Invest. Dermatol. 104 (5): 720–4. doi:10.1111/1523-1747.ep12606963. PMID 7738346.
• Simrak D, Cowley CM, Buxton RS, Arnemann J (1995). "Tandem arrangement of the closely linked desmoglein genes on human chromosome 18". Genomics 25 (2): 591–4. doi:10.1016/0888-7543(95)80067-V. PMID 7790000.
• Wang Y, Amagai M, Minoshima S (1994). "The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12". Genomics 20 (3): 492–5. doi:10.1006/geno.1994.1207. PMID 8034325.
• Schäfer S, Koch PJ, Franke WW (1994). "Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins". Exp. Cell Res. 211 (2): 391–9. doi:10.1006/excr.1994.1103. PMID 8143788.
• Adams MJ, Reichel MB, King IA (1998). "Characterization of the regulatory regions in the human desmoglein genes encoding the pemphigus foliaceous and pemphigus vulgaris antigens". Biochem. J. 329 (Pt 1): 165–74. PMC 1219028. PMID 9405290.
• Marcozzi C, Burdett ID, Buxton RS, Magee AI (1998). "Coexpression of both types of desmosomal cadherin and plakoglobin confers strong intercellular adhesion". J. Cell. Sci. 111 (4): 495–509. PMID 9443898.
• Smith EA, Fuchs E (1998). "Defining the Interactions Between Intermediate Filaments and Desmosomes". J. Cell Biol. 141 (5): 1229–41. doi:10.1083/jcb.141.5.1229. PMC 2137181. PMID 9606214.
• Rickman L, Simrak D, Stevens HP (1999). "N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma". Hum. Mol. Genet. 8 (6): 971–6. doi:10.1093/hmg/8.6.971. PMID 10332028.
• Li G, Schaider H, Satyamoorthy K (2002). "Downregulation of E-cadherin and Desmoglein 1 by autocrine hepatocyte growth factor during melanoma development". Oncogene 20 (56): 8125–35. doi:10.1038/sj.onc.1205034. PMID 11781826.
• Chen X, Bonne S, Hatzfeld M (2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". J. Biol. Chem. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID 11790773.
• Martel P, Gilbert D, Busson M (2003). "Epistasis between DSG1 and HLA class II genes in pemphigus foliaceus". Genes Immun. 3 (4): 205–10. doi:10.1038/sj.gene.6363839. PMID 12058255.
• Hanakawa Y, Schechter NM, Lin C (2002). "Molecular mechanisms of blister formation in bullous impetigo and staphylococcal scalded skin syndrome". J. Clin. Invest. 110 (1): 53–60. doi:10.1172/JCI15766. PMC 151035. PMID 12093888.
• Hanakawa Y, Amagai M, Shirakata Y (2003). "Differential effects of desmoglein 1 and desmoglein 3 on desmosome formation". J. Invest. Dermatol. 119 (6): 1231–6. doi:10.1046/j.1523-1747.2002.19648.x. PMID 12485422.