COL13A1

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Collagen type XIII, alpha 1
other names
  • Alpha-1 type XIII collagen
  • Collagen Alpha-1 (XIII) chain
  • Collagen alpha-1 chain type XIII
Properties of human protein
Mass / length primary structure 717 amino acids , 69,950 Da
Isoforms 11
Identifier
Gene names COL13A1; CMS19
External IDs
Occurrence
Parent taxon Sarcopterygii
Orthologue
human House mouse
Entrez 1305 12817
Ensemble ENSG00000197467 ENSMUSG00000058806
UniProt Q5TAT6 Q9R1N9
Refseq (mRNA) NM_001130103 NM_007731
Refseq (protein) NP_001123575.1 NP_031757.1
Gene locus Chr 10: 69.8 - 69.96 Mb Chr 10: 61.84 - 61.98 Mb
PubMed search 1305 12817

Collagen type XIII, alpha 1 is a collagen with transmembrane domains that from gene COL13A1 is encoded. It forms homotrimers , which in turn form type XIII collagen fibrils .

properties

Type XIII collagen alpha 1 is involved in the cell-matrix connection and in cell adhesion . It also takes part in connecting the muscle fiber with the basement membrane . It also plays an important role in the enchondral ossification of the bones and in the dendritic morphogenesis of the lungs. On the motor end plate , COL13A1 is used to form acetylcholine receptors . The ectodomain of collagen type XIII is able to bind fibronectin , nidogen-2 , perlecan and heparin .

Mutations in the COL13A1 gene can lead to congenital myasthenic syndrome . Single nucleotide polymorphisms in this gene are often associated with typical lobar pneumonia .

Web links

Individual evidence

  1. ↑ Hongmin Tu, Takako Sasaki, Anne Snellman, Walter Göhring, Paivi Pirilä, Rupert Timpl, Taina Pihlajaniemi: The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparin . In: J Biol Chem . 277, No. 25, June 21, 2002, pp. 23092-23099. doi : 10.1074 / jbc.M107583200 . PMID 11956183 .
  2. ↑ CV Logan, J. Cossins, PM Rodríguez Cruz, DA Parry, S. Maxwell, P. Martínez-Martínez, J. Riepsaame, ZA Abdelhamed, AV Lake, M. Moran, S. Robb, G. Chow, C. Sewry , PM Hopkins, E. Sheridan, S. Jayawant, J. Palace, CA Johnson, D. Beeson: Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain . In: Am J Hum Genet . 97, No. 6, December 3, 2015, pp. 878-885. doi : 10.1016 / j.ajhg.2015.10.017 . PMID 26626625 . PMC 4678414 (free full text).
  3. ↑ Naga Chalasani, Xiuqing Guo, Rohit Loomba, Mark O. Goodarzi, Talin Haritunians, Soonil Kwon, Jinrui Cui, Kent D. Taylor, Laura Wilson, Oscar W. Cummings, Yii-Der Ida Chen, Jerome I. Rotter: Genome- Wide Association Study Identifies Variants Associated with Histologic Features of Nonalcoholic Fatty Liver Disease . In: Gastroenterology . 139, No. 5, November 1, 2011, pp. 1567-1576. doi : 10.1053 / j.gastro.2010.07.057 . PMID 26626625 . PMC 2967576 (free full text).