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Description

Pescadillo homolog (UniProt: O00541, also known as PES1) is encoded by the PES1 gene (Gene ID: 23481) in human. PES1 is a component of the evolutionary conserved stable PeBOW-complex that is composed of Pes1 (Pescadillo), Bop1 (Bop1 (block of proliferation) and WDR12 (WD-repeat protein) in mammalian cells. This complex is essential for cell proliferation. It is required for maturation of the 28S and 5.8S ribosomal RNAs and for the formation of 60S ribosome. PES1 is localized in the nucleolus and localizes to the periphery of metaphase chromosomes during mitosis and to the prenucleolar bodies that form in mitotic cells prior the actual nucleoli. Transient deletion of PES1 is reported to result in abnormal mitosis with binucleate or hyperploid cells with multipolar spindles. PES1 contains a BRCT domain (aa 322-415) and either deletion or single point mutations in highly conserved residues in this domain can cause diffuse nucleoplasmic distribution and failure to replace endogenous PES1 in rRNA processing. Point mutations in BRCT-domain can negatively affect PES1 stability and prevent its incorporation into the PeBoW-complex. Higher levels of PES1 are observed in a variety of cancer cell lines, including glioblastoma, breast carcinoma, colon carcinoma, and in malignant tumors of astrocyte origin. Two isoforms of human PES1 have been described that are produced by alternative splicing. (Ref.: Holzel, M., et al. (2007). Nucleic Acids Res. 35(3), 789-800, Grimm, T., et al. (2006). Nucleic Acids Res. 34(10), 3030-3043, Holzel, M., et al. (2005). J. Cell Biol. 170 (3), 367-378).