Desmocollin-3 (DSC3)
The protein contains 896 amino acids for an estimated molecular weight of 99969 Da.
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. (updated: Sept. 12, 2018)
Protein identification was indicated in the following studies:
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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| Variant | Description |
|---|---|
| dbSNP:rs2852003 | |
| dbSNP:rs276937 | |
| dbSNP:rs276938 | |
| dbSNP:rs35296997 | |
| dbSNP:rs276921 | |
| dbSNP:rs35630063 |
Biological Process
Cell adhesion
Cell-cell adhesion
Cornification
Homophilic cell adhesion via plasma membrane adhesion molecules
In utero embryonic development
Keratinization
Protein stabilization
The reference OMIM entry for this protein is 600271
Desmocollin 3; dsc3
Desmocollin 4; dsc4
CLONING
From a bladder carcinoma cell line cDNA library, Kawamura et al. (1994) cloned a human cDNA encoding a novel transmembrane protein. Sequence analysis revealed an open reading frame of 2,691 bp encoding a protein of 896 amino acids. Sequence comparisons showed significant homology to desmocollins, intercellular adhesion molecules belonging to the cadherin superfamily. The protein consisted of a signal peptide of 30 amino acids, a precursor segment of 105 amino acids, and a mature protein of 761 amino acids. Antibodies recognizing the predicted mature adhesion molecule of the protein stained antigens along the cell boundaries of normal human keratinocytes resembling the pattern of desmosome localization. Kawamura et al. (1994) concluded that the clone represented a new member of the desmocollin family and tentatively referred to it as desmocollin type 4. King et al. (1995) used the designation DSC3 for a gene encoding a desmocollin present in human foreskin epidermis and stated that the gene is identical to that encoding the desmocollin isolated from a bladder carcinoma cell line and called DSC4 by Kawamura et al. (1994). King et al. (1995) stated that the cDNA sequence showed 67% amino acid identity with the original human desmocollin, designated DSC2 (125645), and 52% amino acid identity with DSC1 (125643). By in situ hybridization studies, they showed that DSC1 was not present in any of the nonkeratinizing human epithelia, such as buccal mucosa, cervix, and esophagus, whereas all these internal epithelia expressed DSC2 and DSC3 and were present in most of the living layers of tissues, including the basal layers.MAPPING
Amagai et al. (1995) used fluorescence in situ hybridization to demonstrate that the DSC3 gene maps to chromosome 18q12 in the same region as the DSC2 gene. King et al. (1995) likewise mapped the DSC3 gene to chromosome 18 by PCR analysis of rodent/human somatic cell hybrids.MOLECULAR GENETICS
In affected members of a consanguineous Afghan family with hypotrichosis and recurrent skin vesicles (613102) mapping to chromosome 18q12.1, Ayub et al. (2009) identified homozygosity for a nonsense mutation in the DSC3 gene (600271.0001). The unaffected parents and 3 healthy sibs were heterozygous for the mutation, which was not found in 100 unrelated ethnically matched controls. ... More on the omim web site
Oct. 19, 2018: Protein entry updated
Automatic update: OMIM entry 600271 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).