COL3A1
Type III collagen, alpha 1 | ||
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Ribbon model of the protein COL3A1 according to PDB 2V53 | ||
other names |
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Properties of human protein | ||
Mass / length primary structure | 138,564 daltons / 1,466 amino acids | |
Isoforms | 2 | |
Identifier | ||
Gene names | COL3A1 EDS4A | |
External IDs | ||
Occurrence | ||
Parent taxon | Vertebrates | |
Orthologue | ||
human | House mouse | |
Entrez | 1281 | 12825 |
Ensemble | ENSG00000168542 | ENSMUSG00000026043 |
UniProt | P02461 | P08121 |
Refseq (mRNA) | NM_000090 | NM_009930 |
Refseq (protein) | NP_000081 | NP_034060 |
Gene locus | Chr 2: 188.97 - 189.01 Mb | Chr 1: 45.31 - 45.35 Mb |
PubMed search | 1281 |
12825
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Type III collagen, alpha 1 , also known as alpha-1 type III collagen , is a scleroprotein encoded by the COL3A1 gene in the human organism . It is expressed in early embryos and during embryonic development. In adults, type III, alpha 1 collagen is a major component of the extracellular matrix in numerous internal organs and the skin. Mutations in the COL3A1 gene can lead to Ehlers-Danlos syndrome , vascular type.
function
Type III, alpha 1 collagen is a fibrillary collagen that is found in extensible connective tissue such as the skin, lungs, intestines and vascular system. In addition, a peptide of the COL3A1 protein, the III-30 peptide , interacts with glycoprotein VI (GPVI). The III-30 peptide contains three hydroxyproline residues in the OGP / GPO motif. These hydroxyproline residues play a crucial role in GPVI reactivity.
Mutations
Mutations in the COL3A1 gene can cause the following diseases:
- Acrogeria
- Ehlers-Danlos Syndrome , Vascular Type
- Familial abdominal aortic aneurysm
- Familial cerebral saccular aneurysm
Animal model
The murine COL3A1 gene is inactivated in embryonic stem cells by homologous recombination . The mutated allele was transmitted by the mouse and homozygous mutant animals were derived by heterozygous crosses. Heterozygous mice were phenotypically normal. However, around 10% of the homozygous mutated animals survived into adulthood, but had a much shorter lifespan than the wild type. The main cause of death in mutant mice was a rupture of the main blood vessels. An ultrastructural analysis of tissue from mutated mice showed that collagen type III, alpha 1 is essential for normal collagen I fibrillogenesis in the cardiovascular system and other organs.