デスモグレイン1
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/01/27 14:12:32」(JST)
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| DSG1 |
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| Identifiers |
| Aliases |
DSG1, CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1, desmoglein 1 |
| External IDs |
MGI: 2664357 HomoloGene: 1463 GeneCards: DSG1 |
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| Genetically Related Diseases |
| eosinophilic esophagitis[1] |
| Gene ontology |
| Molecular function |
• calcium ion binding
• gamma-catenin binding
• metal ion binding
• protein binding
• toxic substance binding
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| Cellular component |
• integral component of membrane
• cytosol
• lateral plasma membrane
• membrane
• cell-cell junction
• plasma membrane
• desmosome
• cell junction
• apical plasma membrane
• cytoplasmic side of plasma membrane
• extracellular exosome
• extracellular matrix
• cornified envelope
• ficolin-1-rich granule membrane
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| Biological process |
• calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
• single organismal cell-cell adhesion
• maternal process involved in female pregnancy
• response to progesterone
• protein stabilization
• cell adhesion
• cell-cell junction assembly
• homophilic cell adhesion via plasma membrane adhesion molecules
• keratinization
• neutrophil degranulation
• cornification
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| Sources:Amigo / QuickGO |
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| RNA expression pattern |
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| More reference expression data |
| Orthologs |
| Species |
Human |
Mouse |
| Entrez |
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| Ensembl |
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| UniProt |
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| RefSeq (mRNA) |
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| RefSeq (protein) |
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| Location (UCSC) |
Chr 18: 31.32 – 31.36 Mb |
Chr 18: 20.38 – 20.41 Mb |
| PubMed search |
[2] |
[3] |
| Wikidata |
| View/Edit Human |
View/Edit Mouse |
Desmoglein-1 is a protein that in humans is encoded by the DSG1 gene.[4][5]
Contents
- 1 Function
- 2 Interactions
- 3 See also
- 4 References
- 5 Further reading
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.[5]
Interactions
Desmoglein-1 has been shown to interact with PKP3,[6] PKP2,[7] and PTPRT(PTPrho)[8]
See also
- Desmoglein
- List of target antigens in pemphigus
- List of conditions caused by problems with junctional proteins
References
- ^ "Diseases that are genetically associated with DSG1 view/edit references on wikidata".
- ^ "Human PubMed Reference:".
- ^ "Mouse PubMed Reference:".
- ^ 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.
- ^ a b "Entrez Gene: DSG1 desmoglein 1".
- ^ 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.
- ^ 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.
- ^ 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.
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Membrane proteins: cell adhesion molecules
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| Calcium-independent |
| IgSF CAM |
- N-CAM (Myelin protein zero)
- ICAM (1, 5)
- VCAM-1
- PE-CAM
- L1-CAM
- Nectin (PVRL1, PVRL2, PVRL3)
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| Integrins |
- LFA-1 (CD11a+CD18)
- Integrin alphaXbeta2 (CD11c+CD18)
- Macrophage-1 antigen (CD11b+CD18)
- VLA-4 (CD49d+CD29)
- Glycoprotein IIb/IIIa (ITGA2B+ITGB3)
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| Calcium-dependent |
| Cadherins |
| Classical |
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| Desmosomal |
- Desmoglein (DSG1, DSG2, DSG3, DSG4)
- Desmocollin (DSC1, DSC2, DSC3)
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| Protocadherin |
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| Unconventional/ungrouped |
- T-cadherin
- CDH4
- CDH5
- CDH6
- CDH8
- CDH11
- CDH12
- CDH15
- CDH16
- CDH17
- CDH9
- CDH10
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| Selectins |
- E-selectin
- L-selectin
- P-selectin
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| Other |
- Lymphocyte homing receptor: CD44
- L-selectin
- integrin (VLA-4, LFA-1)
- Carcinoembryonic antigen
- CD22
- CD24
- CD44
- CD146
- CD164
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UpToDate Contents
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English Journal
- Pemphigus Herpetiformis With Autoantibodies to Desmoglein 1 and 3.
- Galvañ-Pérez Del Pulgar JI1, Tercedor-Sánchez J2, Jiménez-Gallo D3, Linares-Barrios M3.
- Actas dermo-sifiliograficas.Actas Dermosifiliogr.2016 Jun 20. pii: S0001-7310(16)30165-X. doi: 10.1016/j.ad.2016.04.022. [Epub ahead of print]
- PMID 27340117
- Epidermal desmoglein 1 expression is reduced in kidney transplant recipients compared to immunocompetent patients.
- Johnson JL1, Hoover P2, Jovanovic BD3, Green KJ4, Friedewald JJ5, Robinson JK2.
- The Journal of investigative dermatology.J Invest Dermatol.2016 Jun 11. pii: S0022-202X(16)31343-4. doi: 10.1016/j.jid.2016.06.001. [Epub ahead of print]
- PMID 27302902
- Systemic lupus erythematosus associated with myasthenia gravis, pemphigus foliaceus and chronic thyroiditis after thymectomy.
- Sawamura S1, Kajihara I1, Makino K1, Makino T1, Fukushima S1, Jinnin M1, Oyama B2, Hashimoto T3, Ihn H1.
- The Australasian journal of dermatology.Australas J Dermatol.2016 Jun 7. doi: 10.1111/ajd.12510. [Epub ahead of print]
- A 65-year-old woman had undergone a thymectomy for thymoma and 1 year after surgery she developed scattered erosive erythema with scaling and crusting. Examination findings exhibited the elevation of anti-dsDNA antibody, anti-desmoglein 1 antibody, anti-acetylcholine receptor antibody and anti-thyro
- PMID 27270472
Japanese Journal
- 症例報告 抗デスモグレイン3抗体および抗デスモコリン3 IgG抗体陽性の尋常性天疱瘡の1例
- 船津 栄,宮田 聡子,石井 文人 [他]
- 臨床皮膚科 = Japanese journal of clinical dermatology 69(3), 193-198, 2015-03
- NAID 40020368831
- 抗Dsg1抗体陰性,抗Dsg3抗体陽性を示した皮膚型尋常性天疱瘡の1例 (特集 水疱症・膿疱症)
- 抗デスモグレイン抗体が正常化後再燃し,大量免疫グロブリン静注療法が奏効した尋常性天疱瘡の1例 (特集 水疱症・膿疱症)
Related Links
- Desmoglein-1 is a protein that in humans is encoded by the DSG1 gene. ... Currently, four desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene ...
- The desmoglein plays an important part in the formation of desmosomes. We constructed recombinant adenoviruses containing desmoglein 1 and desmoglein 3 derivatives partly lacking the extracellular domain (desmoglein 1DeltaEC and ...