Description
Collagen III alpha 1, also referred to as collagen type III alpha 1 or COL3A1 for short, was first described in 1971 and is a member of the collagen superfamily and encoded COL3A1 gene (1, 2). In general, collagen III is an extracellular matrix protein that is synthesized as a preprocollagen followed by cleaving of the signal peptide to form the procollagen (1). The human COL3A1 gene is located on chromosome 2q32.2 and collagen III is synthesized as a homotrimer consisting of three identical alpha procollagen chains which are stabilized by disulfide bonds (1,2,3). Each alpha chain is 1466 amino acids (aa) in length with a theoretical molecular weight of 139 kDa for a single alpha chain (1). Structurally, each alpha chain is a left-handed helix which then join together to form a right-handed triple helix (1,2). C-terminal and N-terminal proteinases remove the globular ends of the procollagen to form the type III collagen (1).
Collagen III is a fibrillar collagen that constitutes 5-20% of all collagen in the body (1). It provides structural integrity and is found in many hallow organs and soft connective tissue including the vascular system, skin, lung, uterus, and intestine (1,2). Additionally, collagen III has be found to be associated with type I collagen in the same fibrils (1). Collagen III interacts with signaling integrins to carry out other key functions including cell adhesion, proliferation, and differentiation (1).
Mutations in the COL3A1 gene has been associated with a variety of human diseases, the most well-known being a group of connective tissue disorders termed Ehlers-Danlos Syndromes (1,2,4). Vascular Ehlers-Danlos Syndrome is a specific subtype that is considered the most severe and although the clinical manifestations vary, symptoms include thin skin and fragile blood vessels and can often result in both lung and heart complications (1,4). COL3A1 is also associated with glomerulopathies, or diseases of the glomeruli, which are characterized by an abundance of extracellular matrix (3). Collagenofibrotic glomerulopathy is one specific rare renal disease that is characterized by excessive levels of collagen III (3).
References
1. Kuivaniemi, H., & Tromp, G. (2019). Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. Gene. https://doi.org/10.1016/j.gene.2019.05.003
2. Ricard-Blum S. (2011). The collagen family. Cold Spring Harbor perspectives in biology. https://doi.org/10.1101/cshperspect.a004978
3. Cohen A. H. (2012). Collagen Type III Glomerulopathies. Advances in chronic kidney disease. https://doi.org/10.1053/j.ackd.2012.02.017
4. Olson, S. L., Murray, M. L., & Skeik, N. (2019). A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome. Annals of vascular surgery. https://doi.org/10.1016/j.avsg.2019.05.057
Bioinformatics
| Entrez |
Human
Mouse
Rat
|
| Uniprot |
Human
Human
Human
Bovine
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| Product By Gene ID |
1281 |
| Alternate Names |
- alpha1 (III) collagen
- alpha-1 type III collagen
- COL3A1
- Collagen 3
- collagen alpha-1(III) chain
- collagen, fetal
- collagen, type III, alpha 1
- Collagen-3
- collagenIII
- Collagen-III
- EDS4A
- EDSVASC
- Ehlers-Danlos syndrome type IV, autosomal dominant
- FLJ34534
- PMGEDSV
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