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{{Infobox_gene}}
{{Infobox_gene}}
'''Desmoglein-1''' is a [[protein]] that in humans is encoded by the ''DSG1'' [[gene]].<ref name="pmid1889810">{{cite journal | vauthors = Arnemann J, Spurr NK, Wheeler GN, Parker AE, Buxton RS | title = 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) | journal = Genomics | volume = 10 | issue = 3 | pages = 640–5 |date=Oct 1991 | pmid = 1889810 | pmc =  | doi =10.1016/0888-7543(91)90446-L }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DSG1 desmoglein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1828| accessdate = }}</ref>
'''Desmoglein-1''' is a [[protein]] that in humans is encoded by the ''DSG1'' [[gene]].<ref name="pmid1889810">{{cite journal | vauthors = Arnemann J, Spurr NK, Wheeler GN, Parker AE, Buxton RS | title = 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) | journal = Genomics | volume = 10 | issue = 3 | pages = 640–5 | date = July 1991 | pmid = 1889810 | pmc =  | doi = 10.1016/0888-7543(91)90446-L }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DSG1 desmoglein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1828| access-date = }}</ref> Desmoglein-1 is expressed everywhere in the skin epidermis, but mainly it is expressed in the superficial upper layers of the skin epidermis.<ref>{{Cite book|url=https://link.springer.com/chapter/10.1007/978-3-319-67759-0_1|title=A Clinician's Guide to Pemphigus Vulgaris|last=Beigi|first=Pooya Khan Mohammad|date=2018|publisher=Springer, Cham|isbn=9783319677583|pages=3–10|language=en|doi=10.1007/978-3-319-67759-0_1}}</ref>


== Function ==
== Function ==


Desmosomes are [[Cell junction|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 [[Protein superfamily|superfamily]]. These desmoglein [[gene family]] members are located in a [[gene cluster|cluster]] on [[Chromosome 18 (human)|chromosome 18]]. The protein encoded by this gene has been identified as the [[autoantigen]] of the [[autoimmune disease|autoimmune]] skin blistering disease [[pemphigus foliaceus]].<ref name="entrez" />
Desmosomes are [[Cell junction|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 [[Protein superfamily|superfamily]]. These desmoglein [[gene family]] members are located in a [[gene cluster|cluster]] on [[Chromosome 18 (human)|chromosome 18]]. The protein encoded by this gene has been identified as the [[autoantigen]] of the [[autoimmune disease|autoimmune]] skin blistering disease [[pemphigus foliaceus]].<ref name="entrez" /> 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.<ref>{{Cite journal|date=July 2006|url=https://dx.doi.org/10.1111/ddg.2006.4.issue-7|journal=JDDG|volume=4|issue=7|doi=10.1111/ddg.2006.4.issue-7|title=JDDG: Journal der Deutschen Dermatologischen Gesellschaft: Vol 4, No 7|issn=1610-0379}}</ref>  


==Interactions==
Deficiency of the Desmoglein-1 protein has been found to be associated with increased expression of the for multiple genes encoding allergy related cytokines.<ref>{{cite journal | vauthors = 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 | title = Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting | language = En | journal = Nature Genetics | volume = 45 | issue = 10 | pages = 1244–1248 | date = October 2013 | pmid = 23974871 | pmc = 3791825 | doi = 10.1038/ng.2739 | url = http://www.nature.com/articles/ng.2739 }}</ref> Desmoglein-1 is haploinsufficient and a mutation in the gene can cause the autosomal dominant mutation striate palmoplantar keratoderma.<ref>{{cite journal | vauthors = Has C, Jakob T, He Y, Kiritsi D, Hausser I, Bruckner-Tuderman L | title = Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies | journal = The British Journal of Dermatology | volume = 172 | issue = 1 | pages = 257–61 | date = January 2015 | pmid = 25041099 | doi = 10.1111/bjd.13247 | url = http://doi.wiley.com/10.1111/bjd.13247 }}</ref> 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.<ref>{{cite journal | vauthors = 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 | title = Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin | journal = The Journal of Allergy and Clinical Immunology | volume = 136 | issue = 5 | pages = 1268–76 | date = November 2015 | pmid = 26073755 | pmc = 4649901 | doi = 10.1016/j.jaci.2015.05.002 | url = http://linkinghub.elsevier.com/retrieve/pii/S0091674915006533 }}</ref>
Desmoglein-1 has been shown to [[Protein-protein interaction|interact]] with [[PKP3]],<ref name="pmid12707304">{{cite journal | vauthors = Bonné S, Gilbert B, Hatzfeld M, Chen X, Green KJ, van Roy F | title = Defining desmosomal plakophilin-3 interactions | journal = J. Cell Biol. | volume = 161 | issue = 2 | pages = 403–16 |date=April 2003 | pmid = 12707304 | pmc = 2172904 | doi = 10.1083/jcb.200303036  }}</ref> [[PKP2]],<ref name="pmid11790773">{{cite journal | vauthors = Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ | title = Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling | journal = J. Biol. Chem. | volume = 277 | issue = 12 | pages = 10512–22 |date=March 2002 | pmid = 11790773 | doi = 10.1074/jbc.M108765200 }}</ref> and [[PTPRT]](PTPrho)<ref name="pmid16973135">{{cite journal| vauthors=Besco JA, Hooft van Huijsduijnen R, Frostholm A, Rotter A| title=Intracellular substrates of brain-enriched receptor protein tyrosine phosphatase rho (RPTPrho/PTPRT). | journal=Brain Res | year= 2006 | volume= 1116 | issue= 1 | pages= 50–7 | pmid=16973135 | doi=10.1016/j.brainres.2006.07.122 }}</ref>


==See also==
== Interactions ==
 
Desmoglein-1 has been shown to [[Protein-protein interaction|interact]] with [[PKP3]],<ref name="pmid12707304">{{cite journal | vauthors = Bonné S, Gilbert B, Hatzfeld M, Chen X, Green KJ, van Roy F | title = Defining desmosomal plakophilin-3 interactions | journal = The Journal of Cell Biology | volume = 161 | issue = 2 | pages = 403–16 | date = April 2003 | pmid = 12707304 | pmc = 2172904 | doi = 10.1083/jcb.200303036 }}</ref> [[PKP2]],<ref name="pmid11790773">{{cite journal | vauthors = Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ | title = Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling | journal = The Journal of Biological Chemistry | volume = 277 | issue = 12 | pages = 10512–22 | date = March 2002 | pmid = 11790773 | doi = 10.1074/jbc.M108765200 }}</ref> and [[PTPRT]](PTPrho)<ref name="pmid16973135">{{cite journal | vauthors = Besco JA, Hooft van Huijsduijnen R, Frostholm A, Rotter A | title = Intracellular substrates of brain-enriched receptor protein tyrosine phosphatase rho (RPTPrho/PTPRT) | journal = Brain Research | volume = 1116 | issue = 1 | pages = 50–7 | date = October 2006 | pmid = 16973135 | doi = 10.1016/j.brainres.2006.07.122 }}</ref>
 
== See also ==
* [[Desmoglein]]
* [[Desmoglein]]
* [[List of target antigens in pemphigus]]
* [[List of target antigens in pemphigus]]
* [[List of conditions caused by problems with junctional proteins]]
* [[List of conditions caused by problems with junctional proteins]]


==References==
== References ==
{{reflist}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal | author=Amagai M |title=Desmoglein as a target in autoimmunity and infection |journal=J. Am. Acad. Dermatol. |volume=48 |issue= 2 |pages= 244–52 |year= 2003 |pmid= 12582396 |doi= 10.1067/mjd.2003.7 }}
* {{cite journal | vauthors = Amagai M | title = Desmoglein as a target in autoimmunity and infection | journal = Journal of the American Academy of Dermatology | volume = 48 | issue = 2 | pages = 244–52 | date = February 2003 | pmid = 12582396 | doi = 10.1067/mjd.2003.7 }}
*{{cite journal | vauthors=Wheeler GN, Parker AE, Thomas CL |title=Desmosomal glycoprotein DGI, a component of intercellular desmosome junctions, is related to the cadherin family of cell adhesion molecules |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 11 |pages= 4796–800 |year= 1991 |pmid= 1711210 |doi=10.1073/pnas.88.11.4796 | pmc=51753  }}
* {{cite journal | vauthors = Wheeler GN, Parker AE, Thomas CL, Ataliotis P, Poynter D, Arnemann J, Rutman AJ, Pidsley SC, Watt FM, Rees DA | title = Desmosomal glycoprotein DGI, a component of intercellular desmosome junctions, is related to the cadherin family of cell adhesion molecules | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 88 | issue = 11 | pages = 4796–800 | date = June 1991 | pmid = 1711210 | pmc = 51753 | doi = 10.1073/pnas.88.11.4796 }}
*{{cite journal | vauthors=Amagai M, Klaus-Kovtun V, Stanley JR |title=Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion |journal=Cell |volume=67 |issue= 5 |pages= 869–77 |year= 1992 |pmid= 1720352 |doi=10.1016/0092-8674(91)90360-B }}
* {{cite journal | vauthors = Amagai M, Klaus-Kovtun V, Stanley JR | title = Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion | journal = Cell | volume = 67 | issue = 5 | pages = 869–77 | date = November 1991 | pmid = 1720352 | doi = 10.1016/0092-8674(91)90360-B }}
*{{cite journal | author=Martínez RD |title=[Characterization of the desmoglein in renal cells in culture] |journal=Revista alergia México |volume=38 |issue= 2 |pages= 59–64 |year= 1992 |pmid= 1754823 |doi= | language=Spanish | trans-title=Characterization of the desmoglein in renal cells in culture }}
* {{cite journal | vauthors = Martínez RD | title = [Characterization of the desmoglein in renal cells in culture] | language = Spanish | journal = Revista Alergia Mexico | volume = 38 | issue = 2 | pages = 59–64 | year = 1992 | pmid = 1754823 | doi =  | trans-title = Characterization of the desmoglein in renal cells in culture }}
*{{cite journal | vauthors=Nilles LA, Parry DA, Powers EE |title=Structural analysis and expression of human desmoglein: a cadherin-like component of the desmosome |journal=J. Cell Sci. |volume=99 |issue= 4|pages= 809–21 |year= 1992 |pmid= 1770008 |doi=  }}
* {{cite journal | vauthors = Nilles LA, Parry DA, Powers EE, Angst BD, Wagner RM, Green KJ | title = Structural analysis and expression of human desmoglein: a cadherin-like component of the desmosome | journal = Journal of Cell Science | volume = 99 ( Pt 4) | issue = 4 | pages = 809–21 | date = August 1991 | pmid = 1770008 | doi =  }}
*{{cite journal | vauthors=Roh JY, Stanley JR |title=Plakoglobin binding by human Dsg3 (pemphigus vulgaris antigen) in keratinocytes requires the cadherin-like intracytoplasmic segment |journal=J. Invest. Dermatol. |volume=104 |issue= 5 |pages= 720–4 |year= 1995 |pmid= 7738346 |doi=10.1111/1523-1747.ep12606963 }}
* {{cite journal | vauthors = Roh JY, Stanley JR | title = Plakoglobin binding by human Dsg3 (pemphigus vulgaris antigen) in keratinocytes requires the cadherin-like intracytoplasmic segment | journal = The Journal of Investigative Dermatology | volume = 104 | issue = 5 | pages = 720–4 | date = May 1995 | pmid = 7738346 | doi = 10.1111/1523-1747.ep12606963 }}
*{{cite journal | vauthors=Simrak D, Cowley CM, Buxton RS, Arnemann J |title=Tandem arrangement of the closely linked desmoglein genes on human chromosome 18 |journal=Genomics |volume=25 |issue= 2 |pages= 591–4 |year= 1995 |pmid= 7790000 |doi=10.1016/0888-7543(95)80067-V }}
* {{cite journal | vauthors = Simrak D, Cowley CM, Buxton RS, Arnemann J | title = Tandem arrangement of the closely linked desmoglein genes on human chromosome 18 | journal = Genomics | volume = 25 | issue = 2 | pages = 591–4 | date = January 1995 | pmid = 7790000 | doi = 10.1016/0888-7543(95)80067-V }}
*{{cite journal | vauthors=Wang Y, Amagai M, Minoshima S |title=The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12 |journal=Genomics |volume=20 |issue= 3 |pages= 492–5 |year= 1994 |pmid= 8034325 |doi= 10.1006/geno.1994.1207 }}
* {{cite journal | vauthors = Wang Y, Amagai M, Minoshima S, Sakai K, Green KJ, Nishikawa T, Shimizu N | title = The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12 | journal = Genomics | volume = 20 | issue = 3 | pages = 492–5 | date = April 1994 | pmid = 8034325 | doi = 10.1006/geno.1994.1207 }}
*{{cite journal | vauthors=Schäfer S, Koch PJ, Franke WW |title=Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins |journal=Exp. Cell Res. |volume=211 |issue= 2 |pages= 391–9 |year= 1994 |pmid= 8143788 |doi= 10.1006/excr.1994.1103 }}
* {{cite journal | vauthors = Schäfer S, Koch PJ, Franke WW | title = Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins | journal = Experimental Cell Research | volume = 211 | issue = 2 | pages = 391–9 | date = April 1994 | pmid = 8143788 | doi = 10.1006/excr.1994.1103 }}
*{{cite journal | vauthors=Adams MJ, Reichel MB, King IA |title=Characterization of the regulatory regions in the human desmoglein genes encoding the pemphigus foliaceous and pemphigus vulgaris antigens |journal=Biochem. J. |volume=329 |issue= Pt 1|pages= 165–74 |year= 1998 |pmid= 9405290 |doi= | pmc=1219028 }}
* {{cite journal | vauthors = Adams MJ, Reichel MB, King IA, Marsden MD, Greenwood MD, Thirlwell H, Arnemann J, Buxton RS, Ali RR | title = Characterization of the regulatory regions in the human desmoglein genes encoding the pemphigus foliaceous and pemphigus vulgaris antigens | journal = The Biochemical Journal | volume = 329 ( Pt 1) | issue = Pt 1 | pages = 165–74 | date = January 1998 | pmid = 9405290 | pmc = 1219028 | doi =  }}
*{{cite journal | vauthors=Marcozzi C, Burdett ID, Buxton RS, Magee AI |title=Coexpression of both types of desmosomal cadherin and plakoglobin confers strong intercellular adhesion |journal=J. Cell Sci. |volume=111 |issue= 4|pages= 495–509 |year= 1998 |pmid= 9443898 |doi=  }}
* {{cite journal | vauthors = Marcozzi C, Burdett ID, Buxton RS, Magee AI | title = Coexpression of both types of desmosomal cadherin and plakoglobin confers strong intercellular adhesion | journal = Journal of Cell Science | volume = 111 ( Pt 4) | issue = 4 | pages = 495–509 | date = February 1998 | pmid = 9443898 | doi =  }}
*{{cite journal | vauthors=Smith EA, Fuchs E |title=Defining the Interactions Between Intermediate Filaments and Desmosomes |journal=J. Cell Biol. |volume=141 |issue= 5 |pages= 1229–41 |year= 1998 |pmid= 9606214 |doi=10.1083/jcb.141.5.1229 | pmc=2137181  }}
* {{cite journal | vauthors = Smith EA, Fuchs E | title = Defining the interactions between intermediate filaments and desmosomes | journal = The Journal of Cell Biology | volume = 141 | issue = 5 | pages = 1229–41 | date = June 1998 | pmid = 9606214 | pmc = 2137181 | doi = 10.1083/jcb.141.5.1229 }}
*{{cite journal | vauthors=Rickman L, Simrak D, Stevens HP |title=N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma |journal=Hum. Mol. Genet. |volume=8 |issue= 6 |pages= 971–6 |year= 1999 |pmid= 10332028 |doi=10.1093/hmg/8.6.971 }}
* {{cite journal | vauthors = Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI, Kelsell DP, Buxton RS | title = N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma | journal = Human Molecular Genetics | volume = 8 | issue = 6 | pages = 971–6 | date = June 1999 | pmid = 10332028 | doi = 10.1093/hmg/8.6.971 }}
*{{cite journal | vauthors=Li G, Schaider H, Satyamoorthy K |title=Downregulation of E-cadherin and Desmoglein 1 by autocrine hepatocyte growth factor during melanoma development |journal=Oncogene |volume=20 |issue= 56 |pages= 8125–35 |year= 2002 |pmid= 11781826 |doi= 10.1038/sj.onc.1205034 }}
* {{cite journal | vauthors = Li G, Schaider H, Satyamoorthy K, Hanakawa Y, Hashimoto K, Herlyn M | title = Downregulation of E-cadherin and Desmoglein 1 by autocrine hepatocyte growth factor during melanoma development | journal = Oncogene | volume = 20 | issue = 56 | pages = 8125–35 | date = December 2001 | pmid = 11781826 | doi = 10.1038/sj.onc.1205034 }}
*{{cite journal | vauthors=Chen X, Bonne S, Hatzfeld M |title=Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling |journal=J. Biol. Chem. |volume=277 |issue= 12 |pages= 10512–22 |year= 2002 |pmid= 11790773 |doi= 10.1074/jbc.M108765200 }}
* {{cite journal | vauthors = Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ | title = Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling | journal = The Journal of Biological Chemistry | volume = 277 | issue = 12 | pages = 10512–22 | date = March 2002 | pmid = 11790773 | doi = 10.1074/jbc.M108765200 }}
*{{cite journal | vauthors=Martel P, Gilbert D, Busson M |title=Epistasis between DSG1 and HLA class II genes in pemphigus foliaceus |journal=Genes Immun. |volume=3 |issue= 4 |pages= 205–10 |year= 2003 |pmid= 12058255 |doi= 10.1038/sj.gene.6363839 }}
* {{cite journal | vauthors = Martel P, Gilbert D, Busson M, Loiseau P, Lepage V, Drouot L, Delaporte E, Prost C, Joly P, Charron D, Tron F | title = Epistasis between DSG1 and HLA class II genes in pemphigus foliaceus | journal = Genes and Immunity | volume = 3 | issue = 4 | pages = 205–10 | date = June 2002 | pmid = 12058255 | doi = 10.1038/sj.gene.6363839 }}
*{{cite journal | vauthors=Hanakawa Y, Schechter NM, Lin C |title=Molecular mechanisms of blister formation in bullous impetigo and staphylococcal scalded skin syndrome |journal=J. Clin. Invest. |volume=110 |issue= 1 |pages= 53–60 |year= 2002 |pmid= 12093888 |doi=10.1172/JCI15766 | pmc=151035  }}
* {{cite journal | vauthors = Hanakawa Y, Schechter NM, Lin C, Garza L, Li H, Yamaguchi T, Fudaba Y, Nishifuji K, Sugai M, Amagai M, Stanley JR | title = Molecular mechanisms of blister formation in bullous impetigo and staphylococcal scalded skin syndrome | journal = The Journal of Clinical Investigation | volume = 110 | issue = 1 | pages = 53–60 | date = July 2002 | pmid = 12093888 | pmc = 151035 | doi = 10.1172/JCI15766 }}
*{{cite journal | vauthors=Hanakawa Y, Amagai M, Shirakata Y |title=Differential effects of desmoglein 1 and desmoglein 3 on desmosome formation |journal=J. Invest. Dermatol. |volume=119 |issue= 6 |pages= 1231–6 |year= 2003 |pmid= 12485422 |doi= 10.1046/j.1523-1747.2002.19648.x }}
* {{cite journal | vauthors = Hanakawa Y, Amagai M, Shirakata Y, Yahata Y, Tokumaru S, Yamasaki K, Tohyama M, Sayama K, Hashimoto K | title = Differential effects of desmoglein 1 and desmoglein 3 on desmosome formation | journal = The Journal of Investigative Dermatology | volume = 119 | issue = 6 | pages = 1231–6 | date = December 2002 | pmid = 12485422 | doi = 10.1046/j.1523-1747.2002.19648.x }}
{{refend}}
{{refend}}


{{Cell adhesion molecules}}
{{Cell adhesion molecules}}


{{gene-18-stub}}
{{gene-18-stub}}

Latest revision as of 09:00, 9 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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)n/an/a
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Wikidata
View/Edit Human

Desmoglein-1 is a protein that in humans is encoded by the DSG1 gene.[1][2] Desmoglein-1 is expressed everywhere in the skin epidermis, but mainly it is expressed in the superficial upper layers of the skin epidermis.[3]

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] 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.[4]

Deficiency of the Desmoglein-1 protein has been found to be associated with increased expression of the for multiple genes encoding allergy related cytokines.[5] Desmoglein-1 is haploinsufficient and a mutation in the gene can cause the autosomal dominant mutation striate palmoplantar keratoderma.[6] 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.[7]

Interactions

Desmoglein-1 has been shown to interact with PKP3,[8] PKP2,[9] and PTPRT(PTPrho)[10]

See also

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: DSG1 desmoglein 1".
  3. ↑ Beigi, Pooya Khan Mohammad (2018). A Clinician's Guide to Pemphigus Vulgaris. Springer, Cham. pp. 3–10. doi:10.1007/978-3-319-67759-0_1. ISBN 9783319677583.
  4. ↑ "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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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

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