ANK1 : ankyrin 1


Description

The ANK1 (ankyrin 1) is a protein-coding gene located on chromosome 8.

The ANK1 gene provides instructions for making a protein called ankyrin-1. This protein is primarily active (expressed) in red blood cells, but it is also found in muscle and brain cells. In red blood cells, ankyrin-1 is located at the cell membrane, where it attaches (binds) to other membrane proteins. The binding of membrane proteins to one another maintains the stability and structure of red blood cells but also allows for their flexibility. The proteins allow the cell to change shape without breaking when passing through narrow blood vessels.In muscle and brain cells, ankyrin-1 performs similar functions, binding to other membrane proteins to play a role in cell stability, cell movement, and other cell functions.

Ankyrin-1 is a key component of the ankyrin-1 complex, a multiprotein assembly that plays a crucial role in maintaining the structural integrity and shape of the red blood cell membrane. It acts as a bridge, connecting integral membrane proteins to the cytoskeletal elements within the cell. Specifically, it binds to proteins like band 4.2, Na-K ATPase, GP85 (a lymphocyte membrane protein), and cytoskeletal proteins such as fodrin, tubulin, vimentin, and desmin. Importantly, ankyrin-1 also links spectrin (beta chain) to the cytoplasmic domain of the erythrocyte anion exchange protein, effectively anchoring these components together. These binding activities are essential for the structural stability and flexibility of the red blood cell, enabling it to deform as it navigates through narrow blood vessels.

ANK1 is also known as ANK, SPH1, SPH2, ankyrin-1.

Associated Diseases


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