Human Gene DSG1 (ENST00000257192.5) from GENCODE V44
Description: Homo sapiens desmoglein 1 (DSG1), mRNA. (from RefSeq NM_001942) RefSeq Summary (NM_001942): This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000257192.5 Gencode Gene: ENSG00000134760.6 Transcript (Including UTRs) Position: hg38 chr18:31,318,160-31,359,246 Size: 41,087 Total Exon Count: 15 Strand: + Coding Region Position: hg38 chr18:31,318,301-31,355,346 Size: 37,046 Coding Exon Count: 15
ID:DSG1_HUMAN DESCRIPTION: RecName: Full=Desmoglein-1; AltName: Full=Cadherin family member 4; AltName: Full=Desmosomal glycoprotein 1; Short=DG1; Short=DGI; AltName: Full=Pemphigus foliaceus antigen; Flags: Precursor; FUNCTION: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. SUBUNIT: Binds to JUP/plakoglobin. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, desmosome. TISSUE SPECIFICITY: Epidermis, tongue, tonsil and esophagus. DOMAIN: Calcium may be bound by the cadherin-like repeats (Potential). DISEASE: Defects in DSG1 are the cause of palmoplantar keratoderma striate type 1 (SPPK1) [MIM:148700]; also known as keratosis palmoplantaris striata I. SPPK1 is a dermatoligical disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger. SIMILARITY: Contains 4 cadherin domains.
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 Q02413
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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
