Description: Homo sapiens nucleoporin 214kDa (NUP214), mRNA. RefSeq Summary (NM_005085): 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]. Transcript (Including UTRs) Position: hg19 chr9:134,000,981-134,109,091 Size: 108,111 Total Exon Count: 36 Strand: + Coding Region Position: hg19 chr9:134,001,092-134,108,874 Size: 107,783 Coding Exon Count: 36
ID:NU214_HUMAN DESCRIPTION: RecName: Full=Nuclear pore complex protein Nup214; AltName: Full=214 kDa nucleoporin; AltName: Full=Nucleoporin Nup214; AltName: Full=Protein CAN; FUNCTION: May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex. SUBUNIT: Homodimer. Interacts with DDX19, NUP88, XPO1 and XPO5. Interacts with human herpes virus 1 (HHV-1) protein UL25; this interaction might be essential to the capsid docking onto the host nuclear pore. SUBCELLULAR LOCATION: Nucleus, nuclear pore complex. Note=Cytoplasmic filaments. TISSUE SPECIFICITY: Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development. DOMAIN: Contains FG repeats. PTM: Probably glycosylated as it reacts with wheat germ agglutinin (WGA). DISEASE: Note=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: Note=A chromosomal aberration involving NUP214 is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with SET. SEQUENCE CAUTION: Sequence=BAD07398.1; Type=Erroneous initiation; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CAN.html";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): NUP214 CDC HuGE Published Literature: NUP214
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P35658
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.