Desmoglein 1

From Wikipedia, the free encyclopedia

Desmoglein 1

Identifiers

DSG1; CDHF4; DG1; DSG

External IDs

OMIM: 125670 MGI: 94930 HomoloGene: 1463

Gene ontology
Molecular Function:	• calcium ion binding • protein binding • toxin binding
Cellular Component:	• cytoskeleton • membrane • integral to membrane • desmosome
Biological Process:	• intercellular junction assembly • homophilic cell adhesion • calcium-dependent cell-cell adhesion

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001942 (mRNA)
NP_001933 (protein)

XM_484705 (mRNA)
XP_484705 (protein)

Location

Chr 18: 27.15 - 27.19 Mb

Chr 18: 20.45 - 20.48 Mb

Pubmed search

[1]

[2]

Desmoglein 1, also known as DSG1, is a human gene.^[1]

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, three 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.^[1]

[edit] See also

Desmoglein

[edit] References

^ ^a ^b Entrez Gene: DSG1 desmoglein 1.

[edit] 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, et al. (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. 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. PMID 1720352.
Martínez RD (1992). "[Characterization of the desmoglein in renal cells in culture]". Revista alergia México 38 (2): 59–64. PMID 1754823.
Nilles LA, Parry DA, Powers EE, et al. (1992). "Structural analysis and expression of human desmoglein: a cadherin-like component of the desmosome.". J. Cell. Sci. 99 ( Pt 4): 809–21. PMID 1770008.
Arnemann J, Spurr NK, Wheeler GN, et al. (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. PMID 1889810.
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. 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. PMID 7790000.
Wang Y, Amagai M, Minoshima S, et al. (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, et al. (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. 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 ( Pt 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. PMID 9606214.
Rickman L, Simrak D, Stevens HP, et al. (1999). "N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma.". Hum. Mol. Genet. 8 (6): 971–6. PMID 10332028.
Li G, Schaider H, Satyamoorthy K, et al. (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, et al. (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, et al. (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, et al. (2002). "Molecular mechanisms of blister formation in bullous impetigo and staphylococcal scalded skin syndrome.". J. Clin. Invest. 110 (1): 53–60. PMID 12093888.
Hanakawa Y, Amagai M, Shirakata Y, et al. (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.