COL6A3

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Type VI collagen, alpha 3
Type VI collagen, alpha 3
Ribbon model of the protein COL6A3 according to PDB  1KNT
other names
  • Alpha 3 Type VI Collagen
  • Collagen alpha-3 (VI) chain
  • Collagen alpha-3 chain type VI

Existing structural data : 1KTH , 1KUN , 2KNT

Properties of human protein
Mass / length primary structure 343,669 daltons / 3,177 amino acids
Isoforms 5
Identifier
Gene names COL6A3; DYT27, BTHLM1, UCHMD1
External IDs
Occurrence
Parent taxon Euteleostomi , molting animals
Orthologue
human House mouse
Entrez 1293 12835
Ensemble ENSG00000163359 ENSMUSG00000048126
UniProt P12111
Refseq (mRNA) NM_004369 NM_001243008
Refseq (protein) NP_004360.2
Gene locus Chr 2: 237.32 - 237.41 Mb Chr 1: 90.77 - 90.84 Mb
PubMed search 1293 12835

Type VI collagen, alpha 3 , also known as alpha-3 type VI collagen , is a string of pearls-like collagen encoded by the COL6A3 gene in the human organism . The domains of the protein bind proteins in the extracellular matrix in order to better organize matrix components.

Mutations in this gene are associated with Bethlem myopathy and Ullrich type congenital muscular dystrophy .

Clinical significance

COL6A3 could serve as a potential biomarker and target for the treatment and prognosis of colorectal cancer . In addition, the circulating COL6A3 protein in blood serum has clinical significance in diagnosing malignancy of ductal adenocarcinoma of the pancreas.

In human adults, the C5 domain of COL6A3 is synthesized in the articular cartilage and incorporated into the newly formed type VI collagen fibrils , but is cleaved off shortly after secretion and thus plays no role in the pericellular type VI matrix (cartilage capsule).

Individual evidence

  1. ↑ COL6A3. In: GeneCards (English).
  2. ↑ GeneID 1293
  3. ^ W. Liu, L. Li, H. Ye, H. Tao, H. He: Role of COL6A3 in colorectal cancer. In: Oncology Reports . Volume 39, number 6, June 2018, pp. 2527-2536, doi : 10.3892 / or.2018.6331 , PMID 29620224 , PMC 5983922 (free full text).
  4. ↑ CY Kang, J. Wang, D. Axell-House, P. Soni, ML Chu, G. Chipitsyna, K. Sarosiek, J. Sendecki, T. Hyslop, M. Al-Zoubi, CJ Yeo, HA Arafat: Clinical Significance of serum COL6A3 in pancreatic ductal adenocarcinoma. In: Journal of gastrointestinal surgery: official journal of the Society for Surgery of the Alimentary Tract. Volume 18, Number 1, January 2014, pp. 7-15, doi : 10.1007 / s11605-013-2326-y , PMID 24002763 .
  5. ↑ T. Aigner, L. Hambach, S. Söder, U. Schlötzer-Schrehardt, E. Pöschl: The C5 domain of Col6A3 is cleaved off from the Col6 fibrils immediately after secretion. In: Biochemical and biophysical research communications. Volume 290, Number 2, January 2002, pp. 743-748, doi : 10.1006 / bbrc.2001.6227 , PMID 11785962 .