COL14A1

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Collagen type XIV, alpha 1
other names
  • Alpha-1 type XIV collagen
  • Collagen Alpha-1 (XIV) chain
  • Collagen alpha-1 chain type XIV
  • Undulin
Properties of human protein
Mass / length primary structure 1,796 amino acids , 193,515 Da
Isoforms 3
Identifier
Gene names COL14A1; AND
External IDs
Occurrence
Parent taxon Euteleostomi
Orthologue
human House mouse
Entrez 7373 12818
Ensemble ENSG00000187955 ENSMUSG00000022371
UniProt Q05707 Q80X19
Refseq (mRNA) NM_021110 NM_181277
Refseq (protein) NP_066933.1 XP_006520447.1
Gene locus Chr 8: 120.06 - 120.37 Mb Chr 15: 55.31 - 55.52 Mb
PubMed search 7373 12818

Collagen type XIV, alpha 1 is a fibrillenassoziiertes collagen that the gene COL14A1 is encoded. It forms homotrimers , which in turn form type XIV collagen fibrils .

properties

Type XIV collagen plays a role in the adhesive integration of collagen fascicles. It is associated with the surface of interstitial collagen fibrils, which is represented by the COL1 domain. The COL2 domain serves as a rigid arm that protrudes from the fibril and carries the large N -terminal , globular domain into the extracellular space so that it can interact with other matrix molecules and cell surface receptors. The first elongated fibronectin type III domain causes the dormancy and differentiation of fibroblasts and pre- adipocytes . In addition, COL14A1 is present in the basement membrane during embryonic development . The COMP protein is able to bind to type XIV collagen using the C -terminal collagen domain. This suggests that the binding with COMP serves to stabilize the cohesion between the dermis and the basement membrane.

Mutations in the COL14A1 gene can lead to punctured palmoplantar keratosis .

Web links

Individual evidence

  1. ↑ Martin Ruehl, Ulrike Erben, Detlef Schuppan, Christine Wagner, Anita Zeller, Christian Freise, Hadi Al-Hasani, Maik Loesekann, Michael Notter, Bianca Maria Wittig, et al .: The elongated first fibronectin type III domain of collagen XIV is an inducer of quiescence and differentiation in fibroblasts and preadipocytes . In: J Biol Chem . 280, No. 46, November 18, 2005, pp. 38537-38543. doi : 10.1074 / jbc.M502210200 . PMID 16129687 .
  2. ↑ Laurice Thierry, Andrea Sabine Geiser, Antje Hansen, Florian Tesche, Rainer Herken, Nicolai Miosge: Collagen types XII and XIV are present in basement membrane zones during human embryonic development . In: J Mol Histol . 35, No. 8-9, November 2004, pp. 803-810. doi : 10.1007 / s10735-004-1132-y . PMID 15609093 .
  3. ↑ Pallavi Agarwal, Daniela Zwolanek, Douglas R. Keene, Jan-Niklas Schulz, Katrin Blumbach, Dick Heinegård, Frank Zaucke, Mats Paulsson, Thomas Krieg, Manuel Koch, Beate Eckes: Collagen XII and XIV, New Partners of Cartilage Oligomeric Matrix Protein in the Skin Extracellular Matrix Suprastructure . In: J Biol Chem . 287, No. 27, June 29, 2012, pp. 22549-22559. doi : 10.1074 / jbc.M111.335935 . PMID 22573329 . PMC 3391150 (free full text).
  4. ^ BR Guo, X. Zhang, G. Chen, JG Zhang, LD Sun, WD Du, Q. Zhang, Y. Cui, J. Zhu, XF Tang, R. Xiao, Y. Liu, M. Li, HY Tang , X. Yang, H. Cheng, M. Li, M. Gao, P. Li, JB Wang, FP Xu, XB Zuo, XD Zheng, XG Zhang, L. Yang, JJ Liu, J. Wang, S. Yang , XJ Zhang: Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma . In: J Med Genet . 49, No. 9, September 2012, pp. 563-568. doi : 10.1136 / jmedgenet-2012-100868 . PMID 22972947 .