DSG1

DSG1 Gene Summary

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]

Details

Type
Protein Coding
Official Symbol
DSG1
Official Name
desmoglein 1 [Source:HGNC Symbol;Acc:HGNC:3048]
Ensembl ID
ENSG00000134760
Bio databases IDs NCBI: 1828 Ensembl: ENSG00000134760
Aliases desmoglein 1
Synonyms
CDHF4,desmoglein 1,DG1,DSG,Dsg1b,Dsg1c,EPKHE,EPKHIA,LOC679010,PPKS1,SPPK1
Species
Human, homo_sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • extracellular domain
  • Cadherin, Y-type LIR-motif
  • cytoplasmic domain
  • gamma-catenin binding
  • ectodomain
  • intracellular domain
  • Cadherin repeat-like domain
  • protein binding

Pathways

Biological processes and signaling networks where the DSG1 gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • PPP2R2A
  • MYCN
  • DSC1
  • RPA2
  • CEBPB
  • PLAUR
  • CFTR
  • FBXO6
  • PRMT1
  • PKP3
disease
  • eosinophilic esophagitis
  • Palmoplantar keratoderma striata form I
  • Netherton syndrome
  • psoriasis
  • congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE
  • focal palmoplantar keratoderma striata I
  • acantholysis
regulated by
  • caspase
  • ESR1
  • FOXC1
  • TNF
  • SOD
  • HGF
  • EFNA4
  • tetradecanoylphorbol acetate
  • poly rI:rC-RNA
  • Eta
regulates
  • TNF
  • p38 MAPK
  • JUP
  • DSP
  • IL5
  • TSLP
role in cell
  • expression in
  • apoptosis
  • proliferation
  • adhesion
  • assembly
  • differentiation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cornified envelope
  • Cytoplasm
  • cell borders
  • cell periphery
  • membrane surface
  • cellular membrane
  • Nucleus
  • intercellular junctions
  • desmosomes
  • cell-cell contacts
  • secretory granule membrane
  • cytosol
  • cytoplasmic face of plasma membrane
  • apical membrane
  • lateral plasma membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the DSG1 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • calcium-dependent cell-cell adhesion
  • maternal process involved in female pregnancy
  • cell-cell junction assembly
  • response to progesterone stimulus
  • homophilic cell adhesion
  • protein stabilization

CELLULAR COMPONENT

Where in the cell the gene product is active
  • nucleus
  • cornified envelope
  • lateral plasma membrane
  • cell-cell junction
  • cytoplasm
  • cytosol
  • desmosome
  • apical plasma membrane
  • plasma membrane
  • internal side of plasma membrane

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • toxin binding
  • gamma-catenin binding
  • protein binding
  • calcium ion binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.