Nucleoporin 50

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

NUP50
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNUP50, NPAP60, NPAP60L, nucleoporin 50kDa, nucleoporin 50
External IDsOMIM: 604646 MGI: 1351502 HomoloGene: 5190 GeneCards: NUP50
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

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. 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

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