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NUP50
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2EC1, 3TJ3
Identifiers
Aliases	NUP50, NPAP60, NPAP60L, nucleoporin 50kDa, nucleoporin 50
External IDs	OMIM: 604646; MGI: 1351502; HomoloGene: 5190; GeneCards: NUP50; OMA:NUP50 - orthologs
Gene location (Human) Chr. Chromosome 22 (human) Band 22q13.31 Start 45,163,925 bp End 45,188,017 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15 E2|15 40.25 cM Start 84,807,612 bp End 84,827,164 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in epithelium of nasopharynx nasal epithelium mucosa of paranasal sinus bone marrow bone marrow cells endothelial cell trabecular bone Epithelium of choroid plexus blood sperm Top expressed in Ileal epithelium zygote seminiferous tubule primitive streak spermatid secondary oocyte epiblast tail of embryo genital tubercle yolk sac More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding GTPase activator activity Cellular component nuclear membrane membrane nucleoplasm nucleus intracellular membrane-bounded organelle nuclear pore cytoplasm centrosome host cell Biological process mRNA transport intracellular transport protein transport viral process protein import into nucleus mRNA export from nucleus positive regulation of GTPase activity 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 10762 18141 Ensembl ENSG00000093000 ENSMUSG00000016619 UniProt Q9UKX7 Q9JIH2 RefSeq (mRNA) NM_007172 NM_153645 NM_153684 NM_016714 RefSeq (protein) NP_009103 NP_705931 NP_057923 Location (UCSC) Chr 22: 45.16 – 45.19 Mb Chr 15: 84.81 – 84.83 Mb PubMed search
Wikidata
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Nucleoporin 50 (Nup50) is a protein that in humans is encoded by the NUP50 gene.

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.

Interactions

NUP50 has been shown to interact with KPNB1 and CDKN1B.

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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000093000 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000016619 – 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. Trichet V, Shkolny D, Dunham I, Beare D, McDermid HE (October 1999). "Mapping and complex expression pattern of the human NPAP60L nucleoporin gene". Cytogenet Cell Genet. 85 (3–4): 221–6. doi:10.1159/000015297. PMID 10449902. S2CID 38773521.
6. ^ "Entrez Gene: NUP50 nucleoporin 50kDa".
7. 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.
8. 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. PMC 86029. PMID 10891500.
9. Megat, S; Mora, N; Sanogo, J; et al. (20 January 2023). "Integrative genetic analysis illuminates ALS heritability and identifies risk genes". Nature Communications. 14 (1): 342. Bibcode:2023NatCo..14..342M. doi:10.1038/s41467-022-35724-1. PMC 9860017. PMID 36670122.

Further reading

• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
• 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.
• Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
• 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.
• 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.
• Swaminathan S, Melchior F (2002). "Nucleocytoplasmic transport: more than the usual suspects". Dev. Cell. 3 (3): 304–6. doi:10.1016/S1534-5807(02)00262-9. PMID 12361592.
• Lindsay ME, Plafker K, Smith AE, et al. (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. PMID 12176322.
• Smitherman M, Lee K, Swanger J, et al. (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. PMC 86029. PMID 10891500.
• Guan T, Kehlenbach RH, Schirmer EC, et al. (2000). "Nup50, a Nucleoplasmically Oriented Nucleoporin with a Role in Nuclear Protein Export". Mol. Cell. Biol. 20 (15): 5619–30. doi:10.1128/MCB.20.15.5619-5630.2000. PMC 86026. PMID 10891499.
• Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.

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