Pus1 - pseudouridine synthase 1

Enables chromatin binding activity; nuclear receptor coactivator activity; and tRNA pseudouridine synthase activity. Acts upstream of or within positive regulation of transcription by RNA polymerase II and tRNA pseudouridine synthesis. Located in nucleolus. Part of transcription regulator complex. Used to study myopathy, lactic acidosis, and sideroblastic anemia. Human ortholog(s) of this gene implicated in myopathy, lactic acidosis, and sideroblastic anemia 1. Orthologous to human PUS1 (pseudouridine synthase 1). [provided by Alliance of Genome Resources, Apr 2022]