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Beschreibung

The human gene NUP98 (Gene ID 4928, Also known as ADAR2, ADIR2, NUP96, NUP196) encodes the nuclear pore complex protein Nup98-Nup96 (UniProt P52948, also known as GLFG-repeat containing nucleoporin, Nup98-Nup96), which is posttranslationally autocleaved to form Nup98 and Nup96. Cleavage of the Nup98-96 linkage enhances the interaction between Nup98 and Nup96 and promotes localization of the two proteins to the nuclear pore complex (NPC). An alternative splice event generates a mRNA variant (isoform 3, also known as Nup98-specific 1), which expresses only the Nup98 portion of the Nup98-96 mRNA and allows the independent production of Nup98. Unlike Nup96, Nup98 is known to exist in both NPC-bound and non-NPC-associated pool, where it may participate in gene transcription regulations. Nup98 is reported to interact with histone-modifying enzymes CBP/p300 and histone deacetylases (HDACs) through its glycine-leucine-phenylalanine-glycine (GLFG) repeats. NUP98 gene is also involved in chromosomal translocations, resulting in Nup98 translocation fusions identified as potent transcription factors that induce acute myeloid leukemia (AML) with a particularly poor patient prognosis.

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