B cell scaffold protein with ankyrin repeats 1

B cell scaffold protein with ankyrin repeats 1 (also known as BANK1) is a protein that in humans is encoded by the BANK1 gene. This protein plays a crucial role in the immune system, specifically in the function of B cells.

Function

BANK1 is a scaffold protein that regulates B cell receptor-mediated signal transduction, which is essential for the development and function of B cells. It is involved in the activation of phospholipase C gamma 2 and the calcium signaling pathway, which are critical for B cell activation and function.

Structure

The BANK1 protein contains several ankyrin repeats, which are 33-residue motifs in proteins that mediate protein-protein interactions. It also contains a coiled-coil domain, which is involved in protein dimerization and other interactions.

Clinical significance

Mutations in the BANK1 gene have been associated with systemic lupus erythematosus, a chronic autoimmune disease that can affect various parts of the body, including the skin, joints, kidneys, and brain.

See also

• B cell
• Scaffold protein
• Ankyrin repeat
• Systemic lupus erythematosus

External links

• NCBI Gene
• UniProt