Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DSG1 contributors: mct - updated : 16-12-2016
HGNC name desmoglein 1
HGNC id 3048
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text clustered with DSC1, DSC2, DSC3 and desmogleins DSG2, DSG3
STRUCTURE 39.34 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map qter - 5' - DSG2 - DSG3 - DSG1 - 3' - cen
Authors Simrak (95)
Text see TTR
regionally located clustered with DSG2, DSG3 and desmocollins DSC1, DSC2, DSC3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 5447 - 1049 - 1999 10456343
EXPRESSION
Rna function mRNA of the DSG1 gene is present in normal thymus
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveesophagus    
 intestinesmall intestine   
 mouthtongue   
 pharynx    
Skin/Tegumentskin    
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningepidermisstratum basale 
Epithelialbarrier/liningepidermisstratum spinosum 
cell lineage
cell lines
fluid/secretion
at STAGE
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