Description
STAP1 (signal transducing adaptor protein 1) also known as BRDG1 (BCR downstream signaling 1), which had been identified as an interacting protein with the kinase domain of TEC tyrosine kinase, appears to function as a docking protein acting downstream of TEC in B cell receptor signaling containing pleckstrin homology, Src homology 2-like domains and a proline-rich region. STAP1 is induced in activated bone marrow-derived macrophages, and by CpG, LPS, and interferon in myeloid cell lines. In addition STAP1 expressing cells show strongly reduced migration.
In 2014, on the other hand, STAP1 was discovered as a fourth gene responsible for autosomal dominant hypercholesterolemia; familial hypercholesterolemia 4 (FH4) following LDLR (FH1), apolipoprotein B (FH2) and PCSK9 (FH3)