Biology:Nucleoporin 50
 Generic protein structure example |
Nucleoporin 50 (Nup50) is a protein that in humans is encoded by the NUP50 gene.[1][2]
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]
References
- ↑ "Mapping and complex expression pattern of the human NPAP60L nucleoporin gene". Cytogenet Cell Genet 85 (3–4): 221–6. October 1999. doi:10.1159/000015297. PMID 10449902.
- ↑ 2.0 2.1 "Entrez Gene: NUP50 nucleoporin 50kDa". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10762.
- ↑ 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. doi:10.1016/S0092-8674(02)00836-X. ISSN 0092-8674. PMID 12176322.
- ↑ 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. doi:10.1128/MCB.20.15.5631-5642.2000. ISSN 0270-7306. PMID 10891500.
- ↑ Megat, S et al. (20 January 2023). "Integrative genetic analysis illuminates ALS heritability and identifies risk genes.". Nature Communications 14 (1): 342. doi:10.1038/s41467-022-35724-1. PMID 36670122. Bibcode: 2023NatCo..14..342M.
Further reading
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. 2006. doi:10.1038/nbt1240. PMID 16964243.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. 2005. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Nucleocytoplasmic transport: more than the usual suspects". Dev. Cell 3 (3): 304–6. 2002. doi:10.1016/S1534-5807(02)00262-9. PMID 12361592.
- "Npap60/Nup50 is a tri-stable switch that stimulates importin-alpha:beta-mediated nuclear protein import". Cell 110 (3): 349–60. 2002. doi:10.1016/S0092-8674(02)00836-X. PMID 12176322.
- "Characterization and Targeted Disruption of Murine Nup50, a p27Kip1-Interacting Component of the Nuclear Pore Complex". Mol. Cell. Biol. 20 (15): 5631–42. 2000. doi:10.1128/MCB.20.15.5631-5642.2000. PMID 10891500.
- "Nup50, a Nucleoplasmically Oriented Nucleoporin with a Role in Nuclear Protein Export". Mol. Cell. Biol. 20 (15): 5619–30. 2000. doi:10.1128/MCB.20.15.5619-5630.2000. PMID 10891499.
- "The DNA sequence of human chromosome 22". Nature 402 (6761): 489–95. 1999. doi:10.1038/990031. PMID 10591208. Bibcode: 1999Natur.402..489D.
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