ACO1

ACO1 or Aconitase 1 is an enzyme that in humans is encoded by the ACO1 gene. It is also known as iron-responsive element-binding protein 1 (IREB1). This enzyme is found in the cytoplasm and has a crucial role in cellular metabolism.

Function

ACO1 is a cytosolic protein which binds to iron-responsive elements (IREs). IREs are stem-loop structures found in the 5' UTR of ferritin, and in the 3' UTR of transferrin receptor mRNA. The binding of ACO1 to these elements controls the expression of these proteins, thus playing a key role in maintaining iron homeostasis. It is also involved in the regulation of the hypoxia-inducible factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen.

Structure

The ACO1 protein is a monomer that binds to IREs in a highly specific manner. It is composed of four domains: three RNA recognition motifs (RRMs) and one IRE-binding domain. The IRE-binding domain is responsible for the specific recognition and binding to IREs.

Clinical significance

Mutations in the ACO1 gene are associated with a form of congenital sideroblastic anemia. This is a group of inherited blood disorders that affect the body's ability to produce red blood cells. The condition is characterized by anemia, fatigue, and an increased risk of infections.

File:Aconitase 1.jpg

Aconitase 1

See also

• Aconitase
• Iron-responsive element-binding protein 2
• Sideroblastic anemia

External links

• GeneCards: ACO1

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