Nucleoporin 50 Explained

Nucleoporin 50 (Nup50) is a protein that in humans is encoded by the NUP50 gene.^[1]

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. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene.^[2]

Interactions

NUP50 has been shown to interact with KPNB1^[3] and CDKN1B.^[4]

A variant of NUP50 a nucleopore basket protein, is associated with sporadic ALS. Its dysfunction precedes the mislocation of TDP-43 from the nucleus to the cytoplasm.^[5]

Further reading

• Olsen JV, Blagoev B, Gnad F, etal . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . free .
• Beausoleil SA, Villén J, Gerber SA, etal . A probability-based approach for high-throughput protein phosphorylation analysis and site localization . Nat. Biotechnol. . 24 . 10 . 1285–92 . 2006 . 16964243 . 10.1038/nbt1240 . 14294292 .
• 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 .
• Collins JE, Wright CL, Edwards CA, etal . A genome annotation-driven approach to cloning the human ORFeome . Genome Biol. . 5 . 10 . R84 . 2005 . 15461802 . 10.1186/gb-2004-5-10-r84 . 545604 . 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 .
• 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 .
• Swaminathan S, Melchior F . Nucleocytoplasmic transport: more than the usual suspects . Dev. Cell . 3 . 3 . 304–6 . 2002 . 12361592 . 10.1016/S1534-5807(02)00262-9 . free .
• Lindsay ME, Plafker K, Smith AE, etal . Npap60/Nup50 is a tri-stable switch that stimulates importin-alpha:beta-mediated nuclear protein import . Cell . 110 . 3 . 349–60 . 2002 . 12176322 . 10.1016/S0092-8674(02)00836-X . free .
• Smitherman M, Lee K, Swanger J, etal . Characterization and Targeted Disruption of Murine Nup50, a p27Kip1-Interacting Component of the Nuclear Pore Complex . Mol. Cell. Biol. . 20 . 15 . 5631–42 . 2000 . 10891500 . 10.1128/MCB.20.15.5631-5642.2000 . 86029 .
• Guan T, Kehlenbach RH, Schirmer EC, etal . Nup50, a Nucleoplasmically Oriented Nucleoporin with a Role in Nuclear Protein Export . Mol. Cell. Biol. . 20 . 15 . 5619–30 . 2000 . 10891499 . 10.1128/MCB.20.15.5619-5630.2000 . 86026 .
• Dunham I, Shimizu N, Roe BA, etal . The DNA sequence of human chromosome 22 . Nature . 402 . 6761 . 489–95 . 1999 . 10591208 . 10.1038/990031 . 1999Natur.402..489D . free .

Notes and References

1. Trichet V, Shkolny D, Dunham I, Beare D, McDermid HE . Mapping and complex expression pattern of the human NPAP60L nucleoporin gene . Cytogenet Cell Genet . 85 . 3–4 . 221–6 . October 1999 . 10449902 . 10.1159/000015297 . 38773521 .
2. Web site: Entrez Gene: NUP50 nucleoporin 50kDa.
3. Lindsay . Mark E . Plafker Kendra . Smith Alicia E . Clurman Bruce E . Macara Ian G . August 2002 . Npap60/Nup50 is a tri-stable switch that stimulates importin-alpha:beta-mediated nuclear protein import . Cell . 110 . 3 . 349–60 . 0092-8674. 12176322 . 10.1016/S0092-8674(02)00836-X . free .
4. Smitherman . M . Lee K . Swanger J . Kapur R . Clurman B E . August 2000 . Characterization and Targeted Disruption of Murine Nup50, a p27Kip1-Interacting Component of the Nuclear Pore Complex . Mol. Cell. Biol. . 20 . 15 . 5631–42 . 0270-7306. 10891500 . 10.1128/MCB.20.15.5631-5642.2000 . 86029 .
5. Megat . S . Mora . N . Sanogo . J . etal. Integrative genetic analysis illuminates ALS heritability and identifies risk genes. . Nature Communications . 20 January 2023 . 14 . 1 . 342 . 10.1038/s41467-022-35724-1 . 36670122. 9860017 . 2023NatCo..14..342M . free .