The STAP1 gene is located on chromosome 4q13.2 . The protein encoded by this gene contains several important domains:
STAP1 functions primarily as a docking protein in BCR (B-cell receptor) signaling pathways. It acts downstream of the Tec tyrosine kinase and participates in a positive feedback loop by enhancing the activity of Tec . This interaction is phosphorylation-dependent, meaning that the binding and activity of STAP1 are regulated by the addition of phosphate groups to tyrosine residues on the protein .
STAP1 is predominantly expressed in the spleen and lymph nodes, indicating its significant role in the immune system . It has been implicated in various intracellular signaling pathways, including the EPO-induced Jak-STAT pathway, which is crucial for erythropoiesis (the production of red blood cells) .
Variants of the STAP1 gene have been associated with autosomal-dominant hypercholesterolemia (ADH), a condition characterized by elevated levels of low-density lipoprotein (LDL) cholesterol and an increased risk of coronary vascular disease . This makes STAP1 a potential target for therapeutic interventions aimed at managing cholesterol levels and preventing cardiovascular diseases.
Recombinant human STAP1 is used in various research applications to study its role in signal transduction and its potential implications in diseases. Understanding the function and regulation of STAP1 can provide insights into the development of targeted therapies for conditions associated with its dysregulation.