COL5A1

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Type V collagen, alpha 1
Type V collagen, alpha 1
Ribbon model of the protein COL5A1 according to PDB  1A89
other names
  • Alpha-1 Type V Collagen
  • Collagen Alpha-1 (V) chain
  • Type V collagen alpha-1 chain

Available structural data : 1A9A

Properties of human protein
Mass / length primary structure 183,560 daltons / 1,838 amino acids
Identifier
Gene names COL5A1; EDSC
External IDs
Occurrence
Parent taxon Chordata
Orthologue
human House mouse
Entrez 1289 12831
Ensemble ENSG00000130635 ENSMUSG00000026837
UniProt P20908 O88207
Refseq (mRNA) NM_000093 NM_015734
Refseq (protein) NP_000084.3 NP_056549.2
Gene locus Chr 9: 134.64 - 134.84 Mb Chr 2: 27.89 - 28.04 Mb
PubMed search 1289 12831

Type V collagen, alpha 1 , also known as alpha-1 type V collagen , is a fibrillar collagen encoded by the COL5A1 gene in the human organism . It is an integral part of tissues and regulates the arrangement of heterotypic nerve fibers . COL5A1 is commonly expressed in mesenchymal stem / stromal cells of the bone marrow and in amnion cells .

Structure and function

COL5A1 has two domains : on the one hand the laminin G-like domain (position: 72–244) and on the other hand the fibrillar collagen NC1 domain (NC1 stands for C -terminal and non-collagen, position: 1609–1837). Furthermore, COL5A1 has four distinctive regions:

  • non-helical region (position: 231-443, length: 213)
  • interrupted collagenous region (position: 444-558, length: 115)
  • triple helical region (position: 559–1570, length: 1012)
  • non-helical region (position: 1581-1605, length: 35)

The C terminus, also known as the COLFI domain, plays a critical role in tissue growth and repair. It controls the intracellular composition of procollagen molecules and extracellular collagen fibrils. The COLFI domain binds a calcium ion so that its function comes into play. The C terminus forms carbonyl groups at positions 1660 and 1662 in order to be able to bind the calcium ion.

COL5A1 plays a fundamental role in the control of fibrillogenesis . What is unusual is that it is resistant to collagenases but sensitive to trypsin . As part of the subordinate connective tissue, it is distributed almost ubiquitously. It can bind to DNA, heparan sulfate , thrombospondin , heparin and insulin .

Mutations

Mutations in this gene are associated with Ehlers-Danlos syndrome , classic type.

Individual evidence

  1. ↑ a b COL5A1. In: GeneCards (English).
  2. ↑ A. Fichard, J.-P. Kleman, F. Ruggiero: Another look at collagen V and XI molecules . In: Matrix Biol . 14, 1994, pp. 515-531.
  3. ^ GeneID 1289