Desmoglein-1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
DSG1
Identifiers
Aliases DSG1, CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1, desmoglein 1
External IDs MGI: 94930 HomoloGene: 1463 GeneCards: DSG1
Genetically Related Diseases
eosinophilic esophagitis[1]
RNA expression pattern
PBB GE DSG1 206642 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001942

NM_010079

RefSeq (protein)

NP_001933

NP_034209.2
NP_034209

Location (UCSC) Chr 18: 31.32 – 31.36 Mb Chr 18: 20.31 – 20.34 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]

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.[5]

Interactions[edit]

Desmoglein-1 has been shown to interact with PKP3,[6] PKP2,[7] and PTPRT(PTPrho)[8]

See also[edit]

References[edit]

  1. ^ "Diseases that are genetically associated with DSG1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: DSG1 desmoglein 1". 
  6. ^ 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 2172904Freely accessible. PMID 12707304. 
  7. ^ 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. 
  8. ^ 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[edit]