COL5A1
Collagen Type V Alpha 1 Chain
Gene Information Card
| Symbol | COL5A1 |
|---|---|
| Full Name | Collagen Type V Alpha 1 Chain |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 1289 ncbi.nlm.nih.gov/gene/1289 |
| Ensembl ID | ENSG00000130635 |
| UniProt ID | P20908 |
| OMIM ID | 120215 |
| HGNC ID | 2209 |
| Aliases | COL5A1, collagen alpha-1(V) chain, EDSC, EDS1, EDS3 |
Description
COL5A1 encodes the alpha-1 chain of type V collagen, a heterotrimeric fibrillar collagen that co-assembles with type I collagen to regulate fibril diameter and organization in connective tissues. Mutations in COL5A1 are a major cause of classic Ehlers-Danlos syndrome (cEDS), characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. The gene spans approximately 150 kb and contains 66 exons.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Classic Ehlers-Danlos Syndrome (cEDS) | Heterozygous loss-of-function or dominant-negative mutations in COL5A1 reduce or alter type V collagen, disrupting collagen fibril assembly and leading to connective tissue fragility. | ClinVar, OMIM |
| Ehlers-Danlos Syndrome, Hypermobility Type (hEDS) | Rare COL5A1 variants have been reported in some hEDS cases, though the genetic basis is heterogeneous. | ClinVar, OMIM |
| Arterial Rupture (non-syndromic) | Missense mutations affecting the triple-helix domain can predispose to vascular fragility. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | High |
| Tendon | 10.8 | High |
| Lung | 8.2 | Medium |
| Artery | 7.9 | Medium |
| Uterus | 6.5 | Medium |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblast (skin) | 15.3 | High expression |
| Aortic smooth muscle cells | 9.1 | Medium expression |
| Chondrocytes | 7.4 | Medium expression |
| HepG2 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1662+1G>A | Splice site | ~5% of cEDS | Loss of function; reduced type V collagen |
| c.1837G>A (p.Gly613Arg) | Missense | Rare | Dominant-negative; disrupts triple helix stability |
| c.3277delC | Frameshift | ~2% of cEDS | Loss of function; nonsense-mediated decay |
| c.4421G>A (p.Gly1474Asp) | Missense | Rare | Dominant-negative; altered fibril assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations leading to haploinsufficiency; reduced type V collagen production.
Gain of Function (GOF)
Not described for COL5A1.
Dominant Negative (DN)
Missense mutations in the triple-helix domain (e.g., glycine substitutions) that incorporate mutant chains into collagen fibrils, disrupting normal fibrillogenesis.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Collagen biosynthesis and modifying enzymes (Reactome: R-HSA-1474290)
• Assembly of collagen fibrils and other multimeric structures (Reactome: R-HSA-2022090)
• ECM proteoglycans (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
The COL5A1 protein (collagen alpha-1(V) chain) is a 1838-amino-acid precursor that undergoes post-translational modifications including hydroxylation and glycosylation. It forms homotrimers or heterotrimers with COL5A2 and COL5A3 to assemble type V collagen, which regulates fibril diameter by coating the surface of type I collagen fibrils. The protein contains a central triple-helical domain (Gly-X-Y repeats) flanked by N- and C-terminal propeptides that are cleaved during maturation. Mutations in the triple-helix domain are particularly disruptive to collagen structure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL5A1 Knockout HEK293 Cell Line | EDJ-KQ1896 | Human | 1289 | Details Get a Quote |
| COL5A1 Knockout A-549 Cell Line | EDJ-KQ21799 | Human | 1289 | Details Get a Quote |
| COL5A1 Knockout HeLa Cell Line | EDJ-KQ21800 | Human | 1289 | Details Get a Quote |
| COL5A1 Knockout HCT 116 Cell Line | EDJ-KQ69914 | Human | 1289 | Details Get a Quote |
