{{Short description|Protein-coding gene in the species Homo sapiens}} {{cs1 config|name-list-style=vanc|display-authors=6}} {{Infobox_gene}} '''Nucleoporin 50''' ('''Nup50''') is a protein that in humans is encoded by the ''NUP50'' gene.<ref name="pmid10449902">{{cite journal | vauthors = Trichet V, Shkolny D, Dunham I, Beare D, McDermid HE | date = October 1999 | title = Mapping and complex expression pattern of the human NPAP60L nucleoporin gene | journal = Cytogenetics and Cell Genetics | volume = 85 | issue = 3–4 | pages = 221–226 | doi = 10.1159/000015297 | pmid = 10449902 | s2cid = 38773521 }}</ref><ref name="entrez"/>
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.<ref name="entrez">{{cite web | title = Entrez Gene: NUP50 nucleoporin 50kDa| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=10762}}</ref>
== Interactions == NUP50 has been shown to interact with KPNB1<ref name=pmid12176322>{{cite journal | vauthors = Lindsay ME, Plafker K, Smith AE, Clurman BE, Macara IG | date = August 2002 | title = Npap60/Nup50 is a tri-stable switch that stimulates importin-alpha:beta-mediated nuclear protein import | journal = Cell | volume = 110 | issue = 3 | pages = 349–360 | doi = 10.1016/S0092-8674(02)00836-X | pmid = 12176322 | doi-access = free }}</ref> and CDKN1B.<ref name=pmid10891500>{{cite journal | vauthors = Smitherman M, Lee K, Swanger J, Kapur R, Clurman BE | date = August 2000 | title = Characterization and targeted disruption of murine Nup50, a p27(Kip1)-interacting component of the nuclear pore complex | journal = Molecular and Cellular Biology | volume = 20 | issue = 15 | pages = 5631–5642 | doi = 10.1128/MCB.20.15.5631-5642.2000 | pmc = 86029 | pmid = 10891500 }}</ref>
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.<ref name="Nature">{{cite journal | vauthors = Megat S, Mora N, Sanogo J, Roman O, Catanese A, Alami NO, Freischmidt A, Mingaj X, De Calbiac H, Muratet F, Dirrig-Grosch S, Dieterle S, Van Bakel N, Müller K, Sieverding K, Weishaupt J, Andersen PM, Weber M, Neuwirth C, Margelisch M, Sommacal A, Van Eijk KR, Veldink JH, Lautrette G, Couratier P, Camuzat A, Le Ber I, Grassano M, Chio A, Boeckers T, Ludolph AC, Roselli F, Yilmazer-Hanke D, Millecamps S, Kabashi E, Storkebaum E, Sellier C, Dupuis L | date = January 2023 | title = Integrative genetic analysis illuminates ALS heritability and identifies risk genes | journal = Nature Communications | volume = 14 | issue = 1 | article-number = 342 | doi = 10.1038/s41467-022-35724-1 | pmc = 9860017 | pmid = 36670122 | bibcode = 2023NatCo..14..342M | doi-access = free }}</ref>
== References == {{reflist}}
== Further reading == {{refbegin | 2}} * {{cite journal | vauthors = Olsen JV, Blagoev B, Gnad F, etal | year = 2006 | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–648 | doi = 10.1016/j.cell.2006.09.026 | pmid = 17081983 | doi-access = free }} * {{cite journal | vauthors = Beausoleil SA, Villén J, Gerber SA, etal | year = 2006 | title = A probability-based approach for high-throughput protein phosphorylation analysis and site localization | journal = Nature Biotechnology | volume = 24 | issue = 10 | pages = 1285–1292 | doi = 10.1038/nbt1240 | pmid = 16964243 | s2cid = 14294292 }} * {{cite journal | vauthors = Gerhard DS, Wagner L, Feingold EA, etal | year = 2004 | title = The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) | journal = Genome Research | volume = 14 | issue = 10B | pages = 2121–2127 | doi = 10.1101/gr.2596504 | pmc = 528928 | pmid = 15489334 }} * {{cite journal | vauthors = Collins JE, Wright CL, Edwards CA, etal | year = 2005 | title = A genome annotation-driven approach to cloning the human ORFeome | journal = Genome Biology | volume = 5 | issue = 10 | article-number = R84 | doi = 10.1186/gb-2004-5-10-r84 | pmc = 545604 | pmid = 15461802 | doi-access = free }} * {{cite journal | vauthors = Ota T, Suzuki Y, Nishikawa T, etal | year = 2004 | title = Complete sequencing and characterization of 21,243 full-length human cDNAs | journal = Nature Genetics | volume = 36 | issue = 1 | pages = 40–45 | doi = 10.1038/ng1285 | pmid = 14702039 | doi-access = free }} * {{cite journal | vauthors = Strausberg RL, Feingold EA, Grouse LH, etal | year = 2003 | title = Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 26 | pages = 16899–16903 | doi = 10.1073/pnas.242603899 | pmc = 139241 | pmid = 12477932 | bibcode = 2002PNAS...9916899M | doi-access = free }} * {{cite journal | vauthors = Swaminathan S, Melchior F | year = 2002 | title = Nucleocytoplasmic transport: more than the usual suspects | journal = Developmental Cell | volume = 3 | issue = 3 | pages = 304–306 | doi = 10.1016/S1534-5807(02)00262-9 | pmid = 12361592 | doi-access = free }} * {{cite journal | vauthors = Lindsay ME, Plafker K, Smith AE, etal | year = 2002 | title = Npap60/Nup50 is a tri-stable switch that stimulates importin-alpha:beta-mediated nuclear protein import | journal = Cell | volume = 110 | issue = 3 | pages = 349–360 | doi = 10.1016/S0092-8674(02)00836-X | pmid = 12176322 | doi-access = free }} * {{cite journal | vauthors = Smitherman M, Lee K, Swanger J, etal | year = 2000 | title = Characterization and Targeted Disruption of Murine Nup50, a p27Kip1-Interacting Component of the Nuclear Pore Complex | journal = Molecular and Cellular Biology | volume = 20 | issue = 15 | pages = 5631–5642 | doi = 10.1128/MCB.20.15.5631-5642.2000 | pmc = 86029 | pmid = 10891500 }} * {{cite journal | vauthors = Guan T, Kehlenbach RH, Schirmer EC, etal | year = 2000 | title = Nup50, a Nucleoplasmically Oriented Nucleoporin with a Role in Nuclear Protein Export | journal = Molecular and Cellular Biology | volume = 20 | issue = 15 | pages = 5619–5630 | doi = 10.1128/MCB.20.15.5619-5630.2000 | pmc = 86026 | pmid = 10891499 }} * {{cite journal | vauthors = Dunham I, Shimizu N, Roe BA, etal | year = 1999 | title = The DNA sequence of human chromosome 22 | journal = Nature | volume = 402 | issue = 6761 | pages = 489–495 | doi = 10.1038/990031 | pmid = 10591208 | bibcode = 1999Natur.402..489D | doi-access = free }} {{refend}}
{{Autoantigens}}
Category:Nuclear pore complex
{{gene-22-stub}}