COL6A1
Collagen Type VI Alpha 1 Chain
Gene Information Card
| Symbol | COL6A1 |
|---|---|
| Full Name | Collagen Type VI Alpha 1 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 1291 ncbi.nlm.nih.gov/gene/1291 |
| Ensembl ID | ENSG00000142156 |
| UniProt ID | P12109 |
| OMIM ID | 120220 |
| HGNC ID | 2211 |
| Aliases | COL6A1, collagen VI, alpha-1(VI) chain |
Description
COL6A1 encodes the alpha-1 chain of collagen type VI, a major extracellular matrix protein that forms microfibrils and provides structural support in connective tissues. The gene is located on chromosome 21q22.3 and is expressed in skeletal muscle, skin, and other tissues. Mutations in COL6A1 are associated with Bethlem myopathy and Ullrich congenital muscular dystrophy, characterized by muscle weakness and joint contractures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bethlem myopathy | Missense or splice-site mutations disrupt collagen VI microfibril assembly, leading to muscle weakness and contractures. | ClinVar, OMIM |
| Ullrich congenital muscular dystrophy | Recessive or dominant-negative mutations cause severe collagen VI deficiency, resulting in early-onset muscle weakness and joint hyperlaxity. | ClinVar, OMIM |
| Myosclerosis | Specific COL6A1 mutations lead to excessive collagen deposition and muscle fibrosis. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 32.5 | High |
| Heart | 18.2 | Medium |
| Lung | 12.1 | Medium |
| Skin | 9.8 | Medium |
| Adipose tissue | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblast | 45.0 | Primary skin fibroblasts |
| Skeletal muscle myoblast | 28.0 | Differentiated myotubes |
| Aortic smooth muscle cell | 15.0 | Vascular smooth muscle |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.877G>A (p.Gly293Arg) | Missense | Rare | Dominant-negative effect; disrupts triple helix formation |
| c.1057G>T (p.Gly353Cys) | Missense | Rare | Causes Bethlem myopathy |
| c.1465-1G>A | Splice site | Rare | Exon skipping; loss of function in Ullrich CMD |
Mutation functional classification
Loss of Function (LOF)
Recessive null mutations lead to complete absence of collagen VI, causing severe Ullrich congenital muscular dystrophy.
Gain of Function (GOF)
Not reported for COL6A1.
Dominant Negative (DN)
Missense mutations in the triple-helix domain disrupt microfibril assembly, causing Bethlem myopathy.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • collagen binding |
| • integrin binding | • extracellular matrix organization |
| • cell adhesion |
Pathways
• Collagen biosynthesis and modifying enzymes
• ECM-receptor interaction
• Integrin signaling pathway
Protein Summary
The COL6A1 protein is a 140 kDa alpha-1 chain of collagen type VI. It contains a triple-helical domain flanked by N- and C-terminal globular domains. The protein assembles into heterotrimers with alpha-2 and alpha-3 chains, forming microfibrils that anchor cells to the extracellular matrix. It is essential for muscle integrity and skin elasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL6A1 Knockout HEK293 Cell Line | EDJ-KQ775 | Human | 1291 | Details Get a Quote |
| COL6A1 Knockout HCT 116 Cell Line | EDJ-KQ18279 | Human | 1291 | Details Get a Quote |
| COL6A1 Knockout A-549 Cell Line | EDJ-KQ19484 | Human | 1291 | Details Get a Quote |
| COL6A1 Knockout HeLa Cell Line | EDJ-KQ19486 | Human | 1291 | Details Get a Quote |
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