Nucleoporin 50

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

PDBOrtholog search: PDBe RCSB
AliasesNUP50, NPAP60, NPAP60L, nucleoporin 50kDa, nucleoporin 50
Quick facts NUP50, Available structures ...
NUP50
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNUP50, NPAP60, NPAP60L, nucleoporin 50kDa, nucleoporin 50
External IDsOMIM: 604646; MGI: 1351502; HomoloGene: 5190; GeneCards: NUP50; OMA:NUP50 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
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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

Further reading

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