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FLASH GENE
Symbol COL6A5 contributors: mct - updated : 15-06-2013
HGNC name collagen, type VI, alpha 5
HGNC id 26674
Location 3q22.1      Physical location : 130.064.358 - 130.203.688
Synonym name
  • von Willebrand factor A domain containing 4
  • collagen type VI alpha 5
  • collagen, type XXIX, alpha 1
  • collagen alpha-5(VI) chain
  • Synonym symbol(s) FLJ35880, VWA4, COL29A1
    DNA
    TYPE functioning gene
    STRUCTURE 139.33 kb     40 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    40 - 8878 277.71 2526 - 2008 18400749
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon   Homo sapiensAdultmRNA
    Reproductivemale systemtestis    Homo sapiensAdultmRNA
    Respiratorylung     Homo sapiensAdultmRNA
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 336-AA triple helix flanked by seven N-terminal von Willebrand factor A-like domains
  • a collagenous domain
  • three C-terminal von Willebrand factor A domains, and a unique domain
  • HOMOLOGY
    Homologene
    FAMILY
  • type VI collagen family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • playing a role in epidermal integrity and function, the breakdown of which is a clinical hallmark of atopic dermatitis
  • may have a specialized function in tissue areas subjected to tensile stress
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to atopic dermatitis
  • to AD pathogenesis and chronic obstructive pulmonary disease and asthma
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS