collagen 7 alpha-1; long-chain [LC] collagen (COL7A1)

Function

• stratified squamous epithelial basement membrane protein
• forms anchoring fibrils which may contribute to epithelial basement membrane organization & adherence by interacting with extracellular matrix (ECM) proteins

Structure

• homotrimer
• contains 1 BPTI/Kunitz inhibitor domain
• contains 9 fibronectin F3 modules
• contains 2 VWFA domains

Compartment

• secreted, extracellular space
• extracellular matrix, basement membrane

Alternative splicing

named isoforms=2

Pathology

• defects in COL7A1 are the cause of
  • epidermolysis bullosa dystrophica
    • Pasini type
    • Hallopeau-Siemens type
    • pretibial type
    • Bart type
    • transient bullous dermolysis of the newborn
    • epidermolysis bullosa pruriginosa
  • epidermolysis bullosa simplex superficialis
  • isolated toenail dystrophy without skin fragility

More general terms

• collagen subunit

Component of

• collagen type-7

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1294
• OMIM: https://mirror.omim.org/entry/120120
• OMIM: https://mirror.omim.org/entry/131705
• OMIM: https://mirror.omim.org/entry/131750
• OMIM: https://mirror.omim.org/entry/131850
• OMIM: https://mirror.omim.org/entry/132000
• OMIM: https://mirror.omim.org/entry/226600
• OMIM: https://mirror.omim.org/entry/604129
• OMIM: https://mirror.omim.org/entry/607523
• OMIM: https://mirror.omim.org/entry/607600
• UniProt: http://www.uniprot.org/uniprot/Q02388.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1294