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UBA1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

UBA1 gene

The UBA1 gene provides instructions for the ubiquitin-activating enzyme E1, which is essential for the cell's quality control system that degrades damaged or unneeded proteins.

Normal Function

The UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is necessary for the ubiquitin-proteasome system, which targets damaged or unneeded proteins for degradation. This process maintains protein homeostasis, ensuring old proteins are removed to allow for the production of new ones, which is vital for cell survival and function.

The enzyme performs the first step of this system by activating a small protein called ubiquitin. Once activated, ubiquitin attaches to proteins marked for destruction. A complex of enzymes called a proteasome then recognizes these ubiquitin-tagged proteins and destroys them.

Health Conditions Related to Genetic Changes

VEXAS syndrome

Variants in the UBA1 gene cause VEXAS syndrome, a condition characterized by episodes of fever and abnormal inflammation in the skin, joints, and blood vessels. These variants are somatic, meaning they occur after birth in specific immune and blood-forming cells in the bone marrow.

Most cases involve a change to the amino acid methionine at position 41, leading to an abnormally short enzyme with reduced function. This causes a buildup of damaged or unneeded proteins, which disrupts protein homeostasis and contributes to abnormal immune cell activation or cell death.

X-linked infantile spinal muscular atrophy

Variants in the UBA1 gene can cause X-linked infantile spinal muscular atrophy, characterized by severe muscle weakness starting at birth or in early infancy. These variants are inherited and present in all cells. They reduce the activity or production of the enzyme, leading to a buildup of damaged proteins that impairs cell function.

Specialized nerve cells that control muscle movement, known as motor neurons, are particularly susceptible to this disruption due to their large size. The resulting cell death leads to the signs and symptoms of the condition, including respiratory failure in early childhood due to chest muscle weakness.

Other Names for This Gene

  • GXP1
  • SMAX2
  • UBA1, ubiquitin-activating enzyme E1 homolog A
  • UBA1_HUMAN
  • UBA1A
  • UBE1
  • UBE1X
  • ubiquitin-activating enzyme E1
  • ubiquitin-like modifier activating enzyme 1

Frequently Asked Questions

VEXAS syndrome typically presents with recurrent fevers, skin rashes, joint pain, and inflammation in blood vessels. Other symptoms can include fatigue, shortness of breath, and blood count abnormalities. You should seek medical attention if you experience persistent or recurring fevers, unexplained inflammation, or any of these symptoms, especially if they are severe or worsening.
Infants with X-linked infantile spinal muscular atrophy caused by UBA1 variants typically show severe muscle weakness starting at birth or in early infancy. This can manifest as floppiness, difficulty feeding, problems with breathing, and a lack of movement.
While both conditions involve the UBA1 gene, VEXAS syndrome is caused by somatic variants, meaning the mutation occurs after birth in specific immune and blood-forming cells, leading to inflammation, fever, and blood vessel issues in adults. X-linked infantile spinal muscular atrophy, however, is caused by inherited variants present in all cells from birth, resulting in severe muscle weakness in infants.
No, because VEXAS syndrome is caused by somatic variants, which occur in specific cells after birth and are not present in the reproductive cells (sperm or eggs), it is generally not passed down from an affected individual to their children.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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