Description: Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. RefSeq Summary (NM_001941): The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]. Transcript (Including UTRs) Position: hg19 chr18:28,570,052-28,622,781 Size: 52,730 Total Exon Count: 16 Strand: - Coding Region Position: hg19 chr18:28,574,141-28,622,626 Size: 48,486 Coding Exon Count: 16
ID:DSC3_HUMAN DESCRIPTION: RecName: Full=Desmocollin-3; AltName: Full=Cadherin family member 3; AltName: Full=Desmocollin-4; AltName: Full=HT-CP; Flags: Precursor; FUNCTION: 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. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome. TISSUE SPECIFICITY: Epidermis, buccal mucosa, esophagus and cervix. DOMAIN: Calcium may be bound by the cadherin-like repeats (Potential). DISEASE: Defects in DSC3 are the cause of hypotrichosis and recurrent skin vesicles (HRSV) [MIM:613102]. A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the boby. Mucosal vesicles are absent. SIMILARITY: Contains 5 cadherin domains.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): DSC3 CDC HuGE Published Literature: DSC3 Positive Disease Associations: protein quantitative trait loci Related Studies:
protein quantitative trait loci Melzer ,et al. 2008, A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs), PLoS genetics 2008 4- 5 : e1000072.
[PubMed 18464913]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14574
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
