Aliases for NUP214 Gene
External Ids for NUP214 Gene
Previous GeneCards Identifiers for NUP214 Gene
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]
GeneCards Summary for NUP214 Gene
NUP214 (Nucleoporin 214) is a Protein Coding gene. Diseases associated with NUP214 include Encephalopathy, Acute, Infection-Induced 9 and Acute Myeloid Leukemia With T(6;9)(P23;Q34). Among its related pathways are Metabolism of proteins and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is NUP153.
UniProtKB/Swiss-Prot Summary for NUP214 Gene
Has a critical role in nucleocytoplasmic transport (PubMed:31178128). May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (PubMed:31178128, PubMed:8108440).