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Gene Review

COL17A1  -  collagen, type XVII, alpha 1

Homo sapiens

Synonyms: 180 kDa bullous pemphigoid antigen 2, BA16H23.2, BP180, BPA-2, BPAG2, ...
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Disease relevance of COL17A1


Psychiatry related information on COL17A1

  • We compared brain reward function during withdrawal following an initial exposure to alcohol in alcohol-naïve rats selectively bred for high (HAD1 line) versus low (LAD1 line) voluntary alcohol consumption [6].

High impact information on COL17A1


Chemical compound and disease context of COL17A1


Biological context of COL17A1

  • The homozygous nonsense mutations in the COL17A1 gene were consistent with the absence of the collagen from the skin and with the GABEB phenotype, whereas homozygosity for the missense mutation resulted in expression of aberrant collagen XVII and, clinically, in localisata JEB [2].
  • All patients carried novel homozygous point mutations (Q1016X, R1226X, and R1303Q) in the COL17A1 gene encoding collagen XVII, a hemidesmosomal transmembrane component; and, therefore, not only GABEB but also the localisata JEB can be a collagen XVII disorder [2].
  • We also have developed a strategy to identify mutations in COL17A1 by use of PCR amplification of genomic DNA, using primers placed on the flanking introns [1].
  • Most COL17A1 mutations lead to a premature termination codon (PTC), whereas only a few mutations result in amino acid substitutions or deletions [16].
  • Five of the six COL17A1 alleles of three patients originating from the eastern part of the Netherlands were identical, as were the haplotypes including flanking markers [17].

Anatomical context of COL17A1

  • To test this hypothesis, we studied the behavior of keratinocytes with null mutations in the COL17A1 gene [18].
  • In previous studies, mutations in the gene (COL17A1) encoding the type XVII collagen, a transmembrane component of hemidesmosomes, were detected in most patients with GABEB [19].
  • Genomic organization of collagenous domains and chromosomal assignment of human 180-kDa bullous pemphigoid antigen-2, a novel collagen of stratified squamous epithelium [20].
  • The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome [21].
  • A 97 kDa protein (97-LAD), which localizes at the basement membrane zone of normal human skin, is one of the major autoantigens associated with this disease and possesses multiple regions of amino acid identity with the extracellular domain of the 180 kDa bullous pemphigoid antigen, BPAG2 [22].

Associations of COL17A1 with chemical compounds

  • The patient also has two offspring, both of whom have inherited the glycine substitution mutation, whereas the other COL17A1 allele is normal [11].
  • Several mutations in COL17A1 have been described in patients with GABEB, almost all of which result in a PTC [23].
  • The tyrosine activation motif located in the connecting segment (CS) of the beta4 cytoplasmic domain was dispensable for HD formation, although it may be involved in the efficient localization of BP180 [24].
  • Unexpectedly, this fragment disrupts the distribution of BP180 in transfected cells but has no apparent impact on the organization of endogenous BP230 and alpha6beta4 integrin [21].
  • Bullous pemphigoid antigen 180 (BP180, type XVII collagen) is a transmembrane hemidesmosomal glycoprotein of basal keratinocytes that spans the lamina lucida of the dermal-epidermal junction [25].

Regulatory relationships of COL17A1

  • These data indicate that bullous pemphigoid-associated autoantibodies to the human BP180 ectodomain trigger a signal transducing event that leads to expression and secretion of interleukin-6 and interleukin-8 from human keratinocytes [26].

Other interactions of COL17A1


Analytical, diagnostic and therapeutic context of COL17A1

  • To test its applicability in skin gene therapy, SMaRT was used in the context of the 4003delTC mutation in the collagen XVII gene (COL17A1) causing generalized atrophic benign junctional epidermolysis bullosa [30].
  • The immunofluorescence microscopy studies mentioned above directed mutation studies to the COL17A1 gene [23].
  • To investigate further the relationship between 97-LAD and BPAG2, immunogold electron microscopy was performed on cryo-ultrathin sections of normal human skin using a series of polyclonal and monoclonal antibodies [22].
  • METHODS: Twenty-six consecutive CP sera were analysed by Western blotting using a panel of cell-derived and recombinant proteins covering the entire BP180 molecule [5].
  • On sucrose gradient centrifugation, the soluble BP180 demonstrated a value of approximately 7 S, and chemical cross-linking experiments revealed a trimer form [31].


  1. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Gatalica, B., Pulkkinen, L., Li, K., Kuokkanen, K., Ryynänen, M., McGrath, J.A., Uitto, J. Am. J. Hum. Genet. (1997) [Pubmed]
  2. Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. Schumann, H., Hammami-Hauasli, N., Pulkkinen, L., Mauviel, A., Küster, W., Lüthi, U., Owaribe, K., Uitto, J., Bruckner-Tuderman, L. Am. J. Hum. Genet. (1997) [Pubmed]
  3. Genetic variation in COL17A1 and the development of bullous pemphigoid. Winsey, S., Lonie, L., Allen, J., Bunce, M., Marshall, S.E., Wojnarowska, F. Exp. Dermatol. (2004) [Pubmed]
  4. Aberrant expression of a hemidesmosomal protein, bullous pemphigoid antigen 2, in human squamous cell carcinoma. Yamada, T., Endo, R., Tsukagoshi, K., Fujita, S., Honda, K., Kinoshita, M., Hasebe, T., Hirohashi, S. Lab. Invest. (1996) [Pubmed]
  5. Cicatricial pemphigoid: IgA and IgG autoantibodies target epitopes on both intra- and extracellular domains of bullous pemphigoid antigen 180. Schmidt, E., Skrobek, C., Kromminga, A., Hashimoto, T., Messer, G., Bröcker, E.B., Yancey, K.B., Zillikens, D. Br. J. Dermatol. (2001) [Pubmed]
  6. Decreased reward during acute alcohol withdrawal in rats selectively bred for low alcohol drinking. Chester, J.A., Rausch, E.J., June, H.L., Froehlich, J.C. Alcohol (2006) [Pubmed]
  7. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Jonkman, M.F., Scheffer, H., Stulp, R., Pas, H.H., Nijenhuis, M., Heeres, K., Owaribe, K., Pulkkinen, L., Uitto, J. Cell (1997) [Pubmed]
  8. Gelatinase B-deficient mice are resistant to experimental bullous pemphigoid. Liu, Z., Shipley, J.M., Vu, T.H., Zhou, X., Diaz, L.A., Werb, Z., Senior, R.M. J. Exp. Med. (1998) [Pubmed]
  9. A critical role for neutrophil elastase in experimental bullous pemphigoid. Liu, Z., Shapiro, S.D., Zhou, X., Twining, S.S., Senior, R.M., Giudice, G.J., Fairley, J.A., Diaz, L.A. J. Clin. Invest. (2000) [Pubmed]
  10. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. Darling, T.N., Yee, C., Bauer, J.W., Hintner, H., Yancey, K.B. J. Clin. Invest. (1999) [Pubmed]
  11. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. McGrath, J.A., Gatalica, B., Li, K., Dunnill, M.G., McMillan, J.R., Christiano, A.M., Eady, R.A., Uitto, J. Am. J. Pathol. (1996) [Pubmed]
  12. Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa. Darling, T.N., Yee, C., Koh, B., McGrath, J.A., Bauer, J.W., Uitto, J., Hintner, H., Yancey, K.B. J. Invest. Dermatol. (1998) [Pubmed]
  13. Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. Jonkman, M.F., Pas, H.H., Nijenhuis, M., Kloosterhuis, G., Steege, G. J. Invest. Dermatol. (2002) [Pubmed]
  14. Localisation of bullous pemphigoid antigen 180 (BP180) in cultured human keratinocytes: functionally relevant modification by calcium. Schmidt, E., Wehr, B., Wolf, K., Sitaru, C., Br??cker, E.B., Zillikens, D. Arch. Dermatol. Res. (2006) [Pubmed]
  15. Molecular mapping of a pathogenically relevant BP180 epitope associated with experimentally induced murine bullous pemphigoid. Liu, Z., Diaz, L.A., Swartz, S.J., Troy, J.L., Fairley, J.A., Giudice, G.J. J. Immunol. (1995) [Pubmed]
  16. Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII. Väisänen, L., Has, C., Franzke, C., Hurskainen, T., Tuomi, M.L., Bruckner-Tuderman, L., Tasanen, K. J. Invest. Dermatol. (2005) [Pubmed]
  17. Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa. Scheffer, H., Stulp, R.P., Verlind, E., van der Meulen, M., Bruckner-Tuderman, L., Gedde-Dahl, T., te Meerman, G.J., Sonnenberg, A., Buys, C.H., Jonkman, M.F. Hum. Genet. (1997) [Pubmed]
  18. Keratinocytes from patients lacking collagen XVII display a migratory phenotype. Tasanen, K., Tunggal, L., Chometon, G., Bruckner-Tuderman, L., Aumailley, M. Am. J. Pathol. (2004) [Pubmed]
  19. LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels. Pulkkinen, L., Jonkman, M.F., McGrath, J.A., Kuijpers, A., Paller, A.S., Uitto, J. Lab. Invest. (1998) [Pubmed]
  20. Genomic organization of collagenous domains and chromosomal assignment of human 180-kDa bullous pemphigoid antigen-2, a novel collagen of stratified squamous epithelium. Li, K.H., Sawamura, D., Giudice, G.J., Diaz, L.A., Mattei, M.G., Chu, M.L., Uitto, J. J. Biol. Chem. (1991) [Pubmed]
  21. The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome. Hopkinson, S.B., Jones, J.C. Mol. Biol. Cell (2000) [Pubmed]
  22. 97 kDa linear IgA bullous dermatosis antigen localizes in the lamina lucida between the NC16A and carboxyl terminal domains of the 180 kDa bullous pemphigoid antigen. Ishiko, A., Shimizu, H., Masunaga, T., Yancey, K.B., Giudice, G.J., Zone, J.J., Nishikawa, T. J. Invest. Dermatol. (1998) [Pubmed]
  23. Generalized atrophic benign epidermolysis bullosa. Darling, T.N., Bauer, J.W., Hintner, H., Yancey, K.B. Advances in dermatology. (1997) [Pubmed]
  24. Hemidesmosome formation is initiated by the beta4 integrin subunit, requires complex formation of beta4 and HD1/plectin, and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180. Schaapveld, R.Q., Borradori, L., Geerts, D., van Leusden, M.R., Kuikman, I., Nievers, M.G., Niessen, C.M., Steenbergen, R.D., Snijders, P.J., Sonnenberg, A. J. Cell Biol. (1998) [Pubmed]
  25. BP180 as the common autoantigen in blistering diseases with different clinical phenotypes. Zillikens, D. The Keio journal of medicine. (2002) [Pubmed]
  26. Autoantibodies to BP180 associated with bullous pemphigoid release interleukin-6 and interleukin-8 from cultured human keratinocytes. Schmidt, E., Reimer, S., Kruse, N., Jainta, S., Bröcker, E.B., Marinkovich, M.P., Giudice, G.J., Zillikens, D. J. Invest. Dermatol. (2000) [Pubmed]
  27. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. Floeth, M., Bruckner-Tuderman, L. Am. J. Hum. Genet. (1999) [Pubmed]
  28. The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1. Shimizu, H., Takizawa, Y., Pulkkinen, L., Zone, J.J., Matsumoto, K., Saida, T., Uitto, J., Nishikawa, T. J. Invest. Dermatol. (1998) [Pubmed]
  29. Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25. Sullivan, L.S., Zhao, X., Bowne, S.J., Xu, X., Daiger, S.P., Yee, S.B., Yee, R.W. Curr. Eye Res. (2003) [Pubmed]
  30. Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases. Dallinger, G., Puttaraju, M., Mitchell, L.G., Yancey, K.B., Yee, C., Klausegger, A., Hintner, H., Bauer, J.W. Exp. Dermatol. (2003) [Pubmed]
  31. Demonstration of the molecular shape of BP180, a 180-kDa bullous pemphigoid antigen and its potential for trimer formation. Hirako, Y., Usukura, J., Nishizawa, Y., Owaribe, K. J. Biol. Chem. (1996) [Pubmed]
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