Nucleoporin 43

Nucleoporin 43 (Nup43) is a protein that in humans is encoded by the NUP43 gene.^[5][6]

NUP43
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4I79, 5A9Q
Identifiers
Aliases	NUP43, bA350J20.1, p42, nucleoporin 43kDa, nucleoporin 43
External IDs	OMIM: 608141; MGI: 1917162; HomoloGene: 11639; GeneCards: NUP43; OMA:NUP43 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q25.1 Start 149,724,315 bp[1] End 149,749,665 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 A1 Start 7,543,267 bp[2] End 7,554,645 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte seminal vesicula oral cavity pylorus hair follicle parietal pleura visceral pleura renal medulla germinal epithelium Top expressed in epiblast primary oocyte tail of embryo embryo genital tubercle secondary oocyte embryo morula blastocyst zygote More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytosol nuclear envelope nuclear pore chromosome chromosome, centromeric region nucleus kinetochore nuclear pore outer ring host cell Biological process mRNA transport chromosome segregation cell division protein transport cell cycle viral process mRNA export from nucleus regulation of glycolytic process tRNA export from nucleus protein sumoylation viral transcription regulation of gene silencing by miRNA intracellular transport of virus regulation of cellular response to heat Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 348995 69912 Ensembl ENSG00000120253 ENSMUSG00000040034 UniProt Q8NFH3 P59235 RefSeq (mRNA) NM_024647 NM_198887 NM_145706 RefSeq (protein) NP_942590 NP_663752 Location (UCSC) Chr 6: 149.72 – 149.75 Mb Chr 10: 7.54 – 7.55 Mb PubMed search [3] [4]
Wikidata
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Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004).[supplied by OMIM]^[6] Along with other nucleoporins.

Structure

It folds into a canonical WD40 repeat domain.^[7][8]

Disease association

High expression of NUP43 in breast cancer is associated with poor overall survival.^[9] In chronic myelogenous leukemia (CML), reduction of miRNA-409-5p increases the expression of NUP43 that in turn enhances proliferative potential, cell cycle progression, and imatinib resistance.^[10]

Some Nup43 variants have been characterized as causal for the onset of cardiovascular disease (CVD),^[11] while Nup43 expression has been associated with attention deficit hyperactivity disorder.^[12]