BANK1
Function
Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2.
Involvement in disease
Systemic lupus erythematosus
SLE
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
None
Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated on tyrosines upon BCR activation.
Tissue Specificity
Expressed in B-cell but not T-cell or myeloid cell lines. Highest expression in CD19(+) B-cells, with very low expression in other cell populations.
Alternative names
B-cell scaffold protein with ankyrin repeats, BANK1