Biology:Nucleoporin 43

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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][2] 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]

References

  1. "Proteomic analysis of the mammalian nuclear pore complex". J Cell Biol 158 (5): 915–27. Sep 2002. doi:10.1083/jcb.200206106. PMID 12196509. 
  2. 2.0 2.1 "Entrez Gene: NUP43 nucleoporin 43kDa". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=348995. 
  3. "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. doi:10.1091/mbc.e03-12-0878. PMID 15146057. 
  4. "Crystal structure of human nuclear pore complex component NUP43.". FEBS Lett. 589 (21): 3247–3253. 2015. doi:10.1016/j.febslet.2015.09.008. PMID 26391640. 
  5. "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. doi:10.2217/fon-2017-0690. PMID 29402145. 
  6. "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. doi:10.26355/eurrev_201910_19159. PMID 31646577. 
  7. "Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease". Circulation: Cardiovascular Genetics 10 (3). June 2017. doi:10.1161/CIRCGENETICS.116.001443. PMID 28611029. 
  8. "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. doi:10.1016/j.bbr.2019.02.010. PMID 30738099. 

Further reading

External links

  • Overview of all the structural information available in the PDB for UniProt: Q8NFH3 (Human Nucleoporin Nup43) at the PDBe-KB.