Summary of COL5A1
The COL5A1 gene encodes a component of type V collagen. Collagens are proteins that strengthen and support skin, bones, tendons, and muscles. Mutations in this gene can cause Ehlers-Danlos syndrome, which means the body has weak connective tissues (R).
The Function of COL5A1
Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.
Protein names
Recommended name:
Collagen alpha-1Short name:
V- RS11103429 (COL5A1) ??
- RS12722 (COL5A1) ??
- RS12722489 (COL5A1) ??
- RS1536482 (COL5A1) ??
- RS3132306 (COL5A1) ??
- RS61735045 (COL5A1) ??
- RS7044529 (COL5A1) ??
- RS7874142 (COL5A1) ??
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Top Gene-Substance Interactions
COL5A1 Interacts with These Diseases
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Substances That Increase COL5A1
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Substances That Decrease COL5A1
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Advanced Summary
Ehlers-Danlos syndrome Mutations in the COL5A1 gene cause a form of Ehlers-Danlos syndrome called the classical type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. This form of the disorder is characterized by skin that is soft, highly stretchy (elastic), and fragile; abnormal scarring; and an unusually large range of joint movement (hypermobility). More than 100 COL5A1 gene mutations have been identified in people with classical Ehlers-Danlos syndrome. The mutations affect one copy of the gene in each cell, reducing the amount of pro-α1(V) chains that cells produce. As a result, fibrils containing type V and type I collagens in the skin and other tissues are disorganized and larger than usual. Researchers believe that the abnormal collagen weakens connective tissues throughout the body, which causes the signs and symptoms of classical Ehlers-Danlos syndrome.
The COL5A1 gene provides instructions for making a component of type V collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including skin, ligaments, bones, tendons, and muscles. A component of type V collagen called the pro-α1(V) chain is produced from the COL5A1 gene. Collagens begin as rope-like procollagen molecules that are each made up of three chains. Two combinations of chains can produce type V collagen: three pro-α1(V) chains or two pro-α1(V) chains and one pro-α2(V) chain (which is produced from the COL5A2 gene). The triple-stranded procollagen molecules are processed by enzymes outside the cell to create mature collagen. The collagen molecules then arrange themselves into long, thin fibrils with another form of collagen, type I. Type V collagen regulates the width (diameter) of those fibrils. Studies suggest that type V collagen also controls the assembly of other types of collagen into fibrils in several tissues.
Conditions with Increased Gene Activity
Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Gene Pathways:
Molecular Function:
- Extracellular Matrix Structural Constituent
- Heparin Binding
- Integrin Binding
- Metal Ion Binding
- Platelet-Derived Growth Factor Binding
- Proteoglycan Binding
Biological Processes:
- Blood Vessel Development
- Cell Adhesion
- Collagen Biosynthetic Process
- Collagen Catabolic Process
- Collagen Fibril Organization
- Extracellular Fibril Organization
- Extracellular Matrix Organization
- Eye Morphogenesis
- Heart Morphogenesis
- Integrin Biosynthetic Process
- Negative Regulation Of Endodermal Cell Differentiation
- Regulation Of Cellular Component Organization
- Skin Development
- Tendon Development
- Wound Healing, Spreading Of Epidermal Cells