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FLASH GENE
Symbol DSG1 contributors: mct - updated : 06-11-2010
HGNC name desmoglein 1
HGNC id 3048
Corresponding disease
PPKS1 palmoplantar keratoderma (hyperkeratosis) striata, focal
Location 18q12.1      Physical location : 28.898.051 - 28.937.391
Synonym name
  • desmosomal glycoprotein 1
  • pemphigus foliaceus and herpetiform pemphigus autoantigen
  • pemphigus foliaceus antigen
  • Synonym symbol(s) DG1, DSG, CDHF4, DGI, PPKS1, SPPK1
    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
    Physical map
    DSC3 18q12.1 desmocollin 3 DSC2 18q12.1 desmocollin 2 DSC1 18q12.2 desmocollin 1 DSG1 18q12.1 desmoglein 1 DSG4 18q12.1 desmoglein 4 DSG3 18q12.1 desmoglein 3 (pemphigus vulgaris antigen) DSG2 18q12.1 desmoglein 2 TTR 18q12.1-q12.2 transthyretin (prealbumin, amyloidosis type I) B4GALT6 18q11 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 LOC390845 18 similar to KIAA0563-related gene LOC390846 18 similar to 27 kDa Golgi SNARE protein (Golgi SNAP receptor complex member 2) (Membrin) MCART2 18q12.1 mitochondrial carrier triple repeat 2 KIAA1012 18q11.2 mitochondrial carrier triple repeat 2 LOC342705 18q12.1 similar to 6-phosphogluconate dehydrogenase, decarboxylating LOC390847 18 similar to epsin 2 isoform a; Eps15 binding protein RNF125 18q12.1 ring finger protein 125 LOC390848 18 similar to 40S ribosomal protein S15a RNF138 18q12.1 ring finger protein 138 MEP1B 18q12.2-q12.3 meprin A, beta FLJ21610 KIAA1384 18q12.1 KIAA1384 protein LOC374864 18q12.1 hypothetical protein LOC374864
    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
  • 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)
  • 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
    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