Nucleoporin 50

Protein-coding gene in the species Homo sapiens
NUP50
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2EC1, 3TJ3

Identifiers
AliasesNUP50, NPAP60, NPAP60L, nucleoporin 50kDa, nucleoporin 50
External IDsOMIM: 604646; MGI: 1351502; HomoloGene: 5190; GeneCards: NUP50; OMA:NUP50 - orthologs
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for NUP50
Genomic location for NUP50
Band22q13.31Start45,163,925 bp[1]
End45,188,017 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for NUP50
Genomic location for NUP50
Band15 E2|15 40.25 cMStart84,807,612 bp[2]
End84,827,164 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 15: 84.81 – 84.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Nucleoporin 50 (Nup50) is a protein that in humans is encoded by the NUP50 gene.[5][6]

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.[6]

Interactions

NUP50 has been shown to interact with KPNB1[7] and CDKN1B.[8]

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.[9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000093000 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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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