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FLASH GENE
Symbol DSC1 contributors: mct - updated : 08-11-2010
HGNC name desmocollin 1
HGNC id 3035
Location 18q12.1      Physical location : 28.709.215 - 28.742.819
Synonym name
  • desmosomal glycoprotein 2/3
  • cadherin family member 1
    • Synonym symbol(s) CDHF1, DG2/DG3
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text clustered with DSC2, DSC3 and desmogleins DSG1, DSG2, DSG3
    STRUCTURE 33.62 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see TTR
    regionally located clustered with DSC2,DSC3 and desmogleins DSG1, DSG2, DSG3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 4220 100 894 - 2004 14673151
  • DSC1a variant is essential for assembly of the desmosomal plaque, a structure that connects desmosomes to the intermediate filament cytoskeleton of epithelial cells
  • neither the DSC1a- nor the DSC1b-specific COOH-terminal cytoplasmic domain is required for establishing and maintaining desmosomal adhesion
    • 17 splicing 4270 93.8 840 - 2004 14673151
  • DSC1B
  • neither the DSC1a- nor the DSC1b-specific COOH-terminal cytoplasmic domain is required for establishing and maintaining desmosomal adhesion
    		•
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     intestinesmall intestine   
    Skin/Tegumentskin appendageshairfollicle   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningepidermisstratum spinosum 
    Epithelialbarrier/lining   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • cadherin domain
    • conjugated GlycoP
    HOMOLOGY
    intraspecies homolog to desmoglein DGIV/DGV
    Homologene
    FAMILY
  • desmosomal cadherin family of cell-cell adhesion molecules
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,gap
    plasma membrane,junction,desmosome
    basic FUNCTION
  • required for cell adhesion and desmosome formation
  • desmosomal cadherins exhibiting differentiation-specific patterns of expression in the epidermis
  • transmembrane glycoprotein specifically synthesized in the inner root sheath of hair follicle and in the companion layer
  • promotes the formation of intercellular adhesion complexes and the relative level of DSG1 and DSC1 expressed at the cell surface regulates this adhesive process
  • play a critical role in the maintenance of tissue integrity in epithelia and cardiac muscle
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • compoenent of desmosome
  • essential constituents of desmosomes, intercellular junctions
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • 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
    • cell & other
    REGULATION
    activated by C/EBPalpha but not C/EBPbeta (differentially regulated by C/EBP (CCAAT/enhancer-binding protein) family members)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    with DSC1, were dramatically reduced in the upper most living layers of the epidermis in Netherton syndrome
    tumoral     --other  
    de novo expression in colorectal cancer
    Susceptibility to Alzheimer disease
    Variant & Polymorphism other polymorphism modulating AD susceptibility in a gender-specific manner
    Candidate gene
    Marker
  • autoantigen of the subcorneal pustular dermatosis type was identified as DSC1
    • Therapy target
    ANIMAL & CELL MODELS