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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NUP50
nucleoporin 50
Chromosome 22 · 22q13.31
NCBI Gene: 10762Ensembl: ENSG00000093000.20HGNC: HGNC:8065UniProt: B4E2D3
121PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnuclear envelopenucleoplasmnuclear membraneHIV infectioninfluenzaviral diseaseCOVID-19
✦AI Summary

NUP50 encodes nucleoporin 50, a nuclear pore complex component with dual roles in nuclear transport and gene regulation. As a nuclear transport protein, NUP50 facilitates protein import by displacing nuclear localization signals from importin-alpha and promoting importin recycling 1. It localizes to nuclear pores through interaction with Nup153, which provides scaffolding for its transport functions 1. Beyond transport, NUP50 has emerged as a key regulator of cellular metabolism and longevity. It is post-translationally regulated by AMPK in response to energy stress and directly interacts with transcriptional machinery through its intrinsically disordered region to activate lipid catabolism genes, promoting lifespan extension 2. In DNA repair, NUP50 works with Nup153 to promote 53BP1 recruitment to damage sites, counteracting BRCA1-mediated events and influencing the balance between homologous recombination and non-homologous end joining 3. Clinically, NUP50 mutations are associated with increased ALS risk, with loss of function causing neuronal death and motor defects 4. The protein also serves as an autoantigen target in type 1 diabetes and Sjögren's disease, particularly in seronegative patients 56.

Sources cited
1
NUP50 facilitates nuclear protein import by displacing NLS from importin-alpha and interacts with Nup153 for nuclear pore localization
PMID: 23007389
2
NUP50 is regulated by AMPK and promotes transcriptional activation of lipid catabolism genes through its intrinsically disordered region
PMID: 40027662
3
NUP50 works with Nup153 to promote 53BP1 recruitment to DNA damage sites, counteracting BRCA1-mediated events
PMID: 28751496
4
NUP50 mutations are associated with increased ALS risk and loss of function causes neuronal death and motor defects
PMID: 36670122
5
NUP50 serves as an autoantigen target in type 1 diabetes with T cell recognition
PMID: 40490584
6
NUP50 autoantibodies show diagnostic potential for seronegative Sjögren's disease patients
PMID: 41534451
Disease Associationsⓘ20
HIV infectionOpen Targets
0.54Moderate
influenzaOpen Targets
0.54Moderate
viral diseaseOpen Targets
0.53Moderate
COVID-19Open Targets
0.37Weak
HistiocytosisOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.27Weak
actinic keratosisOpen Targets
0.24Weak
VertigoOpen Targets
0.24Weak
chondromalaciaOpen Targets
0.23Weak
sunburnOpen Targets
0.19Weak
suntanOpen Targets
0.18Weak
skin cancerOpen Targets
0.18Weak
skin diseaseOpen Targets
0.05Suggestive
neural tube defects, folate-sensitiveOpen Targets
0.04Suggestive
anencephaly 1Open Targets
0.04Suggestive
Isolated anencephaly/exencephalyOpen Targets
0.04Suggestive
Spina bifida - hypospadiasOpen Targets
0.04Suggestive
spina bifida-hypospadias syndromeOpen Targets
0.04Suggestive
ovarian cancerOpen Targets
0.03Suggestive
sarcomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PBRM1Protein interaction100%BRD7Protein interaction100%SMARCC2Protein interaction100%NDC1Protein interaction99%SEH1LProtein interaction99%NUP35Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
39%
Lung
32%
Liver
31%
Ovary
23%
Heart
15%
Gene Interaction Network
Click a node to explore
NUP50PBRM1BRD7SMARCC2NDC1SEH1LNUP35
PROTEIN STRUCTURE
Preparing viewer…
PDB7MO0 · 2.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.66LoF Tolerant
pLIⓘ
0.38Tolerant
Observed/Expected LoF0.40 [0.25–0.66]
RankingsWhere NUP50 stands among ~20K protein-coding genes
  • #3,888of 20,598
    Most Researched121 · top quartile
  • #4,861of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedNUP50
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
PMID: 36670122
Nat Commun · 2023
1.00
2
The nuclear pore complex connects energy sensing to transcriptional plasticity in longevity.
PMID: 40992375
Mol Cell · 2025
0.90
3
The nuclear pore complex connects energy sensing to transcriptional plasticity in longevity.
PMID: 40027662
bioRxiv · 2025
0.80
4
The Nup153-Nup50 protein interface and its role in nuclear import.
PMID: 23007389
J Biol Chem · 2012
0.70
5
T cell and autoantibody recognition of nucleus-associated islet autoantigens in individuals with type 1 diabetes.
PMID: 40490584
Diabetologia · 2025
0.60