Desmoglein-1 (DSG1)
The protein contains 1049 amino acids for an estimated molecular weight of 113748 Da.
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. (updated: March 4, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt, is predicted to be membranous by TOPCONS.
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Biological Process
Apoptotic process
Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
Cell-cell adhesion
Cell-cell junction assembly
Cellular component disassembly involved in execution phase of apoptosis
Cornification
Homophilic cell adhesion via plasma membrane adhesion molecules
Keratinization
Maternal process involved in female pregnancy
Neutrophil degranulation
Protein stabilization
Response to progesterone
Single organismal cell-cell adhesion
The reference OMIM entry for this protein is 125670
Desmoglein 1; dsg1
Pemphigus foliaceus antigen; pfa
DESCRIPTION
The calcium-binding transmembrane glycoproteins DG I (desmoglein; M(r) 150,000) and the related proteins DG II and DG III (desmocollins; see DSC2, 125645) comprise the major proteins of the urea-insoluble core of the desmosome. Desmosomes are the most common type of intercellular junction in vertebrate epithelial cells. Desmosomal proteins can be divided into 2 groups on the basis of whether they fractionate with the core or the urea-soluble 'plaque' components (summary by Arnemann et al., 1991).GENE STRUCTURE
Hunt et al. (2001) presented the complete exon-intron structure of the DSG1 gene, which contains 15 exons and spans about 43 kb.MAPPING
Arnemann et al. (1991) designed a PCR assay for the gene coding for desmoglein and used it to test human/mouse and human/rat somatic cell hybrids with different contents of human chromosomes. In this way, they were able to assign DSG to chromosome 18. By fluorescence in situ hybridization, Wang et al. (1994) mapped both the DSG1 gene and the DSG3 gene to 18q12. Furthermore, both of the genes were localized on a 320-kb genomic fragment separated by pulsed field gel electrophoresis. Buxton et al. (1994) demonstrated that the murine homologs of DSC2 and DSG1 are closely linked in the proximal region of mouse chromosome 18. From a study of YAC clones, Simrak et al. (1995) found that the DSG1, DSG2 (125671), and DSG3 genes are clustered within a region of less than 150 kb in 18q12.1. From restriction enzyme analysis, they showed that the order of the DSG genes and their orientation is as follows: 5-prime--DSG1--DSG3--DSG2--3-prime. The desmoglein isoforms are expressed in a stratification-related manner in human epidermis, DSG1 being suprabasally expressed and DSG3 at a lower level, while DSG2 expression is weak and basal. Thus there appears to be some correspondence between the order of the DSG genes on chromosome 18 and their expression within tissues, raising the possibility that the organization of the cluster is required for properly regulated gene expression.GENE FUNCTION
Amagai et al. (1991) demonstrated that desmoglein-1 is the antigen target in the autoimmune disease of skin, pemphigus foliaceus; DSG3 (169615) is the antigen target in pemphigus vulgaris. Pemphigus foliaceus is an autoimmune skin disease mediated by autoantibodies against desmoglein-1. The endemic form, known as fogo selvagem, is thought to have an environmental cause. Warren et al. (2000) performed an epidemiologic study including an area of Brazil, Limao Verde, with a prevalence of 3.4% of fogo selvagem in the population. In 59 of 60 patients with the disorder, antibodies against desmoglein-1 were detected, whereas such antibodies were found in only 3 of 126 normal subjects from the United States and Japan. Antibodies were also detected in 51 of 93 normal subjects from Limao Verde, and in 54 of 279 normal subjects from surrounding areas. Serum samples obtained 1 to 4 years before the onset of the disease were available for 5 patients; all 5 had antibodies in the initial serum samples, and the onset of disease was associated with a marked increase in antibody values. Warren et al. (2000) concluded that there must be an unknown environmental agent that initiates production of antibodies against desmoglein-1. In pregnant women with pemphigus foliaceus, autoantibodies cross the placenta and bind to the fetal epidermis, but they rarely cause blisters in neonates. Wu et al. ... More on the omim web site
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 125670 was added.