COL17A1

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Collagen type XVII, alpha 1
other names
  • Alpha 1 type XVII collagen
  • Collagen Alpha-1 (XVII) chain
  • Collagen alpha-1 chain type XVII
  • Bullous pemphigoid antigen 2
Properties of human protein
Mass / length primary structure 1,497 amino acids , 150,419 Da
Identifier
Gene names COL17A1; BA16H23.2; BPA-2; LAD-1; ERED
External IDs
Occurrence
Parent taxon Vertebrata
Orthologue
human House mouse
Entrez 1308 12821
Ensemble ENSG00000065618 ENSMUSG00000025064
UniProt Q9UMD9 Q07563
Refseq (mRNA) NM_130778 NM_007732
Refseq (protein) NP_000485.3 NP_001277754.1
Gene locus Chr 10: 104.03 - 104.09 Mb Chr 19: 47.65 - 47.69 Mb
PubMed search 1308 12821

Collagen type XVII, alpha 1 is a collagen with transmembrane domains that from gene COL17A1 is encoded. It forms homotrimers , which in turn form collagen fibrils of type XVII.

properties

Collagen XVII plays an important role in the integrity of hemidesmosomes and in the attachment of keratinocytes to the underlying basement membrane . The bullous pemphigoid antigen 2 is an ectodomain of collagen XVII that ensures dermoepidermal cohesion and can bind to immunoglobulin A.

Furthermore, collagen XVII promotes the invasion of extravillous trophoblasts during the development of the placenta and it is recruited for the integrity of the amniotic basement membrane. It also attaches to the glomerular basement membrane of podocytes and thus may play a role in podocyte maturation and glomerular filtration .

Mutations in the COL17A1 gene can lead to bullous pemphigoid .

Web links

Individual evidence

  1. ↑ Kinga Csorba, Sabine Schmidt, Florina Florea, Norito Ishii, Takashi Hashimoto, Michael Hertl, Sarolta Kárpáti, Leena Bruckner-Tuderman, Wataru Nishie, Cassian Sitaru: Development of an ELISA for sensitive and specific detection of IgA autoantibodies against BP180 in pemphigoid diseases . In: Orphanet J Rare Dis . 6, No. 31, May 28, 2011. doi : 10.1186 / 1750-1172-6-31 . PMID 21619684 . PMC 3126693 (free full text).
  2. ↑ Laura Huilaja, Tiina Hurskainen, Helena Autio-Harmainen, Silke C. Hofmann, Raija Sormunen, Juha Räsänen, Mika Ilves, Claus-Werner Franzke, Leena Bruckner-Tuderman, Kaisa Tasanen: Pemphigoid gestationis autoantigen, transmembrane collagen XVII, promotes the migration of cytotrophoblastic cells of placenta and is a structural component of fetal membranes . In: Matrix Biol . 27, No. 3, April 2008, pp. 190-200. doi : 10.1016 / j.matbio.2007.10.007 . PMID 18055190 .
  3. ↑ Tiina Hurskainen, Jyri Moilanen, Raija Sormunen, Claus-Werner Franzke, Raija Soininen, Stefanie Loeffek, Laura Huilaja, Matti Nuutinen, Leena Bruckner-Tuderman, Helena Autio-Harmainen, et al .: Transmembrane collagen XVII is a novel component of the glomerular filtration barrier . In: Cell Tissue Res . 248, No. 3, June 2012, pp. 579-588. doi : 10.1007 / s00441-012-1368-x . PMID 22457199 .
  4. ↑ L. Cifuentes, D. Kiritsi, W. Chen, J. Pennino, J. Ring, S. Weidinger, C. Has: A case of junctional epidermolysis bullosa with prurigo-like lesions and reduction of collagen XVII and filaggrin . In: Br J Dermatol . 169, No. 1, July 2013, pp. 195-198. doi : 10.1111 / bjd.12241 . PMID 23834121 .