COL3A1
Collagen Type III Alpha 1 Chain
Gene Information Card
| Symbol | COL3A1 |
|---|---|
| Full Name | Collagen Type III Alpha 1 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 2q32.2 |
| NCBI Gene ID | 1281 ncbi.nlm.nih.gov/gene/1281 |
| Ensembl ID | ENSG00000168542 |
| UniProt ID | P02461 |
| OMIM ID | 120180 |
| HGNC ID | 2201 |
| Aliases | EDSVASC, EDS4A, collagen III, alpha-1 type III collagen |
Description
COL3A1 provides instructions for making the pro-alpha1(III) chain of type III collagen, a fibrillar collagen found in extensible connective tissues such as skin, lungs, and blood vessels. This collagen forms homotrimers and is essential for tissue strength and elasticity. Mutations in COL3A1 are the primary cause of vascular Ehlers-Danlos syndrome (vEDS) and contribute to arterial aneurysms and dissections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vascular Ehlers-Danlos Syndrome (vEDS) | Dominant-negative or haploinsufficient mutations disrupt type III collagen fibril assembly, weakening blood vessel and organ walls. | ClinVar, OMIM |
| Aortic Aneurysm, Familial Thoracic | Missense or splice-site variants impair collagen integrity, predisposing to aortic dilation and rupture. | ClinVar, OMIM |
| Ehlers-Danlos Syndrome, Hypermobility Type (rare) | Some COL3A1 variants may contribute to joint hypermobility and skin fragility. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Artery | 62.3 | High |
| Lung | 35.1 | Medium |
| Skin | 28.7 | Medium |
| Heart | 22.4 | Medium |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblast (skin) | 45.6 | Primary dermal fibroblasts |
| Aortic smooth muscle cells | 38.2 | Vascular SMCs |
| HUVEC (endothelial) | 12.1 | Umbilical vein endothelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1662+1G>A | Splice site | Rare | Exon skipping, loss of function |
| p.Gly831Arg | Missense | Common in vEDS | Dominant-negative, disrupts triple helix |
| p.Arg1093Cys | Missense | Rare | Alters collagen cross-linking |
Mutation functional classification
Loss of Function (LOF)
Haploinsufficiency due to nonsense or frameshift variants reduces type III collagen production.
Gain of Function (GOF)
Not typically described; most pathogenic variants are dominant-negative or loss-of-function.
Dominant Negative (DN)
Glycine substitutions in the triple helix domain interfere with normal collagen assembly, causing severe vEDS.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Collagen biosynthesis and modifying enzymes (Reactome: R-HSA-1650814)
• ECM proteoglycans (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
The COL3A1 protein, pro-alpha1(III) chain, is synthesized as a preprocollagen with a signal peptide. After cleavage of signal and propeptides, three chains assemble into a homotrimeric triple-helical procollagen. Extracellular processing yields mature type III collagen fibrils that provide tensile strength to extensible tissues. Post-translational modifications include hydroxylation of proline and lysine residues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL3A1 Knockout HEK293 Cell Line | EDJ-KQ3118 | Human | 1281 | Details Get a Quote |
| COL3A1 Knockout A-549 Cell Line | EDJ-KQ24468 | Human | 1281 | Details Get a Quote |
| COL3A1 Knockout HeLa Cell Line | EDJ-KQ24469 | Human | 1281 | Details Get a Quote |
| COL3A1 Knockout HCT 116 Cell Line | EDJ-KQ69911 | Human | 1281 | Details Get a Quote |
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