nucleoporin 214(NUP214) Homo sapiens The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015],
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Function:
Disease:A chromosomal aberration involving NUP214 is found in a subset of acute myeloid leukemia (AML); also known as acute non-lymphocytic leukemia. Translocation t(6;9)(p23;q34) with DEK. It results in the formation of a DEK-CAN fusion gene.,Disease:A chromosomal aberration involving NUP214 is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with SET.,Disease:Defects in NUP214 may be a cause of breast cancer.,Domain:Contains FG repeats.,Function:May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex.,PTM:Probably glycosylated as it reacts with wheat germ agglutinin (WGA).,subcellular location:Cytoplasmic filaments.,subunit:Homodimer. Interacts with DDX19, NUP88, XPO1 and XPO5.,tissue specificity:Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development.,
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Cellular Localization:
Nucleus, nuclear pore complex . Cytoplasmic side of the nuclear pore complex. .
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Tissue Expression:
Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development.
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Research Areas:
>>Nucleocytoplasmic transport ;
>>Amyotrophic lateral sclerosis