Nucleoporin 43 Explained

Nucleoporin 43 (Nup43) is a protein that in humans is encoded by the NUP43 gene.^{[1] [2]}

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] Along with other nucleoporins.

Structure

It folds into a canonical WD40 repeat domain.^{[3] [4]}

Disease association

High expression of NUP43 in breast cancer is associated with poor overall survival.^[5] 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.^[6]

Some Nup43 variants have been characterized as causal for the onset of cardiovascular disease (CVD),^[7] while Nup43 expression has been associated with attention deficit hyperactivity disorder.^[8]

Further reading

• Hartley JL, Temple GF, Brasch MA . DNA cloning using in vitro site-specific recombination. . Genome Res. . 10 . 11 . 1788–95 . 2001 . 11076863 . 10.1101/gr.143000 . 310948 .
• Wiemann S, Weil B, Wellenreuther R, etal . Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. . Genome Res. . 11 . 3 . 422–35 . 2001 . 11230166 . 10.1101/gr.GR1547R . 311072 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Wiemann S, Arlt D, Huber W, etal . From ORFeome to biology: a functional genomics pipeline. . Genome Res. . 14 . 10B . 2136–44 . 2004 . 15489336 . 10.1101/gr.2576704 . 528930 .
• Mehrle A, Rosenfelder H, Schupp I, etal . The LIFEdb database in 2006. . Nucleic Acids Res. . 34 . Database issue . D415–8 . 2006 . 16381901 . 10.1093/nar/gkj139 . 1347501 .

Notes and References

1. Cronshaw JM, Krutchinsky AN, Zhang W, Chait BT, Matunis MJ . Proteomic analysis of the mammalian nuclear pore complex . J Cell Biol . 158 . 5 . 915–27 . Sep 2002 . 12196509 . 2173148 . 10.1083/jcb.200206106 .
2. Web site: Entrez Gene: NUP43 nucleoporin 43kDa.
3. Loïodice I, Alves A, Rabut G, Van Overbeek M, Ellenberg J, Sibarita JB, Doye V . The entire Nup107-160 complex, including three new members, is targeted as one entity to kinetochores in mitosis . Molecular Biology of the Cell . 15 . 7 . 3333–44 . July 2004 . 15146057 . 452587 . 10.1091/mbc.e03-12-0878 .
4. Xu C, He H, etal . Crystal structure of human nuclear pore complex component NUP43. . FEBS Lett. . 589 . 21 . 3247–3253 . 2015 . 10.1016/j.febslet.2015.09.008 . 26391640 . 8089347 . free .
5. Tian C, Zhou S, Yi C . High NUP43 expression might independently predict poor overall survival in luminal A and in HER2+ breast cancer . Future Oncology . London, England . 14 . 15 . 1431–1442 . June 2018 . 29402145 . 10.2217/fon-2017-0690 . 46780926 .
6. Liu YY, Jiao WY, Li T, Bao YY . MiRNA-409-5p dysregulation promotes imatinib resistance and disease progression in children with chronic myeloid leukemia . European Review for Medical and Pharmacological Sciences . 23 . 19 . 8468–8475 . October 2019 . 31646577 . 10.26355/eurrev_201910_19159 . 204865406 .
7. Haskell GT, Jensen BC, Samsa LA, Marchuk D, Huang W, Skrzynia C, Tilley C, Seifert BA, Rivera-Muñoz EA, Koller B, Wilhelmsen KC, Liu J, Alhosaini H, Weck KE, Evans JP, Berg JS . Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease . Circulation: Cardiovascular Genetics . 10 . 3 . June 2017 . 28611029 . 5497793 . 10.1161/CIRCGENETICS.116.001443 .
8. Fahira A, Li Z, Liu N, Shi Y . Prediction of causal genes and gene expression analysis of attention-deficit hyperactivity disorder in the different brain region, a comprehensive integrative analysis of ADHD . Behavioural Brain Research . 364 . 183–192 . May 2019 . 30738099 . 10.1016/j.bbr.2019.02.010 . 72334804 .