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Description

SET-binding protein (UniProt Q9Y6X0, also known as SEB, SETBP1) is encoded by the SETBP1 (also known as KIAA0437, MRD29) gene (Gene ID 26040) in human. SETBP1 is shown to bind the SET nuclear oncogene involved in DNA replication. It is expressed in various tissues with low levels in myeloid and monocytic cells and in CD34+ cells, however, higher expression is observed in myeloid malignancies. Overexpression of SETBP1 promotes leukemogenesis by enhancing full-length SET protein and then impairing the phosphatase activity of the tumor suppressor PP2A through the formation of a SETBP1-SET-PP2A complex. Patients with SETBP1 overexpression have a significantly shorter overall survival, and poor prognosis, particularly in the elderly patients. Mutations in SETBP1 gene are associated with Schinzel-Giedion midface retraction syndrome, which is characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations. (Ref.: Cristobal, I., et al. (2010). Blood 115(3): 615-625).