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FLASH GENE
Symbol COL7A1 contributors: mct - updated : 10-02-2010
HGNC name collagen, type VII, alpha 1
HGNC id 2214
Corresponding disease
EBDD epidermolysis bullosa dystrophic, generalized
EBDDN epidermolysis bullosa dystrophica, neonatal form
EBDPR epidermolysis bullosa dystrophic, pruriginosa
EBDR epidermolysis bullosa dystrophic, severe generalized
EBDRO epidermolysis bullosa dystrophic, generalized other
EBSS epidermolysis bullosa simplex superficialis
Location 3p21.31      Physical location : 48.601.505 - 48.632.593
Synonym name
  • long chain collagen
  • collagen VII, alpha-1 polypeptide
  • collagen alpha-1
  • Synonym symbol(s) EBD1, EBR1, EBDCT
    DNA
    TYPE functioning gene
    STRUCTURE 31.09 kb     118 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    118 - 9169 - 2944 - 2002 11986329
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskin    
    Urinarybladder   highly
    Visualeyeanterior segmentconjunctiva  
     eyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines epidermoid carcinoma cell line
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text chorion, amnios
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal von Willebrand factor type A domain
  • fibronectin type III domain
  • a second von Willebrand factor type A domain
  • a long collagen domain
  • a Kunitz trypsin inhibitor domain
  • conjugated GlycoP
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies ortholog to murine Col7a1 (84 pc)
    Homologene
    FAMILY
  • collagen family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • anchoring fibril between stratified epithelium and underlying dermis
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    text epidermis differentiation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EBDD , EBDDN , EBDR , EBDRO , EBSS , EBDPR
    Susceptibility to squamous cell carcinoma
    Variant & Polymorphism other
  • retention of a specific collagen VII fragment (the N-terminal noncollagenous domain NC1) in a subset of RDEB patients may contribute to their increased susceptibility to squamous cell carcinoma
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    dermatologyskin 
    molecular strategy for counteracting dominant-negative interference of glycine substitution mutations by shifting the balance between WT and mutant alpha-chains forming the collagen triple helix
    ANIMAL & CELL MODELS