Nucleoporin 43

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
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 cavity of mouth pylorus hair follicle parietal pleura visceral pleura renal medulla germinal epithelium Top expressed in secondary oocyte morula left lung yolk sac bone marrow neural tube testicle placenta spermatid mesencephalon 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
View/Edit Human View/Edit Mouse

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

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]

References

1. GRCh38: Ensembl release 89: ENSG00000120253 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040034 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Cronshaw JM, Krutchinsky AN, Zhang W, Chait BT, Matunis MJ (Sep 2002). "Proteomic analysis of the mammalian nuclear pore complex". J Cell Biol. 158 (5): 915–27. doi:10.1083/jcb.200206106. PMC   2173148 . PMID   12196509.
6. "Entrez Gene: NUP43 nucleoporin 43kDa".
7. Loïodice I, Alves A, Rabut G, Van Overbeek M, Ellenberg J, Sibarita JB, Doye V (July 2004). "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. doi:10.1091/mbc.e03-12-0878. PMC   452587 . PMID   15146057.
8. Xu C, He H, et al. (2015). "Crystal structure of human nuclear pore complex component NUP43". FEBS Lett. 589 (21): 3247–3253. doi:10.1016/j.febslet.2015.09.008. PMID   26391640. S2CID   8089347.
9. Tian C, Zhou S, Yi C (June 2018). "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. doi:10.2217/fon-2017-0690. PMID   29402145. S2CID   46780926.
10. Liu YY, Jiao WY, Li T, Bao YY (October 2019). "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. doi:10.26355/eurrev_201910_19159. PMID   31646577. S2CID   204865406.
11. 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 (June 2017). "Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease". Circulation: Cardiovascular Genetics. 10 (3). doi:10.1161/CIRCGENETICS.116.001443. PMC   5497793 . PMID   28611029.
12. Fahira A, Li Z, Liu N, Shi Y (May 2019). "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. doi:10.1016/j.bbr.2019.02.010. PMID   30738099. S2CID   72334804.

Further reading

• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "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. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.

External links

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