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FLASH GENE
Symbol DSG1 contributors: mct - updated : 16-12-2016
HGNC name desmoglein 1
HGNC id 3048
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four extracellular cadherin repeats
  • a transmembrane domain (TH1), flanked an extracellular and an intracellular anchor domain
  • an intracellular cadherin-like sequence
  • a proline-rich linker domain
  • a desmoglein-specific repeat unit
  • a C terminal domain
  • conjugated GlycoP
    isoforms Precursor a N terminal signal and prosequences
    HOMOLOGY
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-adhesion molecule
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane,junction,desmosome
    text
  • localized on corneodesmosomes involved in adhesion
  • basic FUNCTION
  • required for cell adhesion
  • key protein in desmosome structure and function in the epidermis
  • desmoglein 1 as a previously unrecognized regulator of apoptosis in keratinocytes
  • promotes the formation of intercellular adhesion complexes and the relative level of DSG1 and DSC1 expressed at the cell surface regulates this adhesive process
  • not only required for maintaining epidermal tissue integrity in the superficial layers but also supports keratinocyte differentiation and suprabasal morphogenesis
  • required for suppression of epidermal growth factor receptor-Erk1/2 (extracellular signal-regulated kinase 1/2) signaling, thereby facilitating keratinocyte progression through a terminal differentiation program
  • promotes keratinocyte differentiation by attenuating MAPK/ERK signaling and is linked to striate palmoplantar keratoderma (SPPK)
  • CELLULAR PROCESS cell life, cell death/apoptosis
    cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major component of corneodesmosomes
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • interacting with DSC3 (displayed heterophilic interaction with DSG1 but not with DSG3)
  • plakoglobin, but normally not CTNNB1, is also a structural constituent of desmosomes, where it binds to the cytoplasmic domains of the desmosomal cadherins, desmogleins and desmocollins
  • KLK5 interacting with DSG1 (KLK5 action may destabilize DSG1 structure and abolish adhesion to desmocollins on neighboring cells)
  • ERBIN (also known as ERBB2IP), a known ERK regulator, binds DSG1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PPKS1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    associated with a worse prognosis in head and neck squamous cell carcinoma
    constitutional     --low  
    with DSC1, were dramatically reduced in the upper most living layers of the epidermis in Netherton syndrome
    constitutional       loss of function
    analysis of epidermis from DSG1-deficient patients with striate palmoplantar keratoderma (SPPK) demonstrated increased RAS-SHOC2 colocalization and decreased ERBIN-SHOC2 colocalization, offering a possible explanation for the observed epidermal defects
    Susceptibility to pemphigus foliaceus
    Variant & Polymorphism
    Candidate gene
    Marker
  • target autoantigen of pathogenic autoantibodies produced by pemphigus foliaceus and 50p100 of pemphigus vulgaris patients in a DSG1-specific T-cell-dependent pathway
  • Therapy target
    ANIMAL & CELL MODELS