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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NUP43
nucleoporin 43
Chromosome 6 · 6q25.1
NCBI Gene: 348995Ensembl: ENSG00000120253.15HGNC: HGNC:21182UniProt: Q8NFH3
86PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
kinetochoreprotein bindingnuclear envelopenucleoplasmHIV infectioninfluenzaviral diseaseCOVID-19
✦AI Summary

NUP43 is a nucleoporin component of the Nup107-160 subcomplex within the nuclear pore complex (NPC), essential for NPC assembly and function 1. As a member of the NPC's Y-complex, NUP43 adopts a seven-bladed β-propeller fold and interacts with the Nup85-Seh1L binary complex to form functional subcomplexes 1. Beyond nucleocytoplasmic transport, NUP43 plays critical roles in chromosome 6 and mitotic progression. Recently, NUP43 was identified as a nucleoporin that localizes to DNA double-strand break (DSB) sites, where it cooperates with Polycomb repressive complex 1 and ATM to promote transcriptional repression and facilitate DSB repair 2. NUP43 dysfunction is associated with multiple disease states. Loss-of-function variants in NUP43 significantly increase risk for premature ovarian insufficiency (POI), suggesting involvement in meiosis and ovarian function 3. NUP43 variants cause cardiovascular disease, with zebrafish morphants displaying cardiac abnormalities including pericardial edema and heart failure 4. Additionally, NUP43 emerges as a molecular biomarker in schizophrenia, with altered peripheral expression correlating with immune cell dysfunction 5. In breast cancer, elevated NUP43 expression independently predicts poor overall survival in luminal A and HER2+ subtypes, associated with DNA amplification 6. NUP43's multifunctional roles in genome stability, meiosis, and tissue-specific development highlight its broader significance beyond classical nuclear transport.

Sources cited
1
NUP43 is a component of the Nup107 subcomplex, adopts a seven-bladed β-propeller fold, and interacts with Nup85-Seh1L complex
PMID: 26391640
2
NUP43 localizes to DNA double-strand break sites and cooperates with Polycomb proteins and ATM to promote transcriptional repression and DSB repair
PMID: 40440073
3
Loss-of-function variants in NUP43 are associated with premature ovarian insufficiency, suggesting a role in meiosis
PMID: 36732629
4
NUP43 variants cause cardiovascular disease; zebrafish morphants show cardiac abnormalities including pericardial edema and heart failure
PMID: 28611029
5
NUP43 is identified as a molecular biomarker in schizophrenia with altered peripheral blood expression correlating with immune cell dysfunction
PMID: 40015618
6
High NUP43 expression independently predicts poor overall survival in luminal A and HER2+ breast cancer subtypes and is associated with DNA amplification
PMID: 29402145
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
neoplasmOpen Targets
0.10Suggestive
placenta praeviaOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
gliomaOpen Targets
0.04Suggestive
migraine disorderOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.03Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
Testicular Germ Cell TumorOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NUP62CLShared pathway100%SPASTProtein interaction100%POM121Protein interaction100%NUP210Protein interaction99%NUP37Protein interaction99%GLE1Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
87%
Lung
66%
Ovary
65%
Liver
64%
Bone Marrow
45%
Gene Interaction Network
Click a node to explore
NUP43NUP62CLSPASTPOM121NUP210NUP37GLE1
PROTEIN STRUCTURE
Preparing viewer…
PDB4I79 · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.41–0.84]
RankingsWhere NUP43 stands among ~20K protein-coding genes
  • #5,557of 20,598
    Most Researched86
  • #7,266of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedNUP43
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Landscape of pathogenic mutations in premature ovarian insufficiency.
PMID: 36732629
Nat Med · 2023
1.00
2
Identifying periphery biomarkers of first-episode drug-naïve patients with schizophrenia using machine-learning-based strategies.
PMID: 40015618
Prog Neuropsychopharmacol Biol Psychiatry · 2025
0.90
3
Nucleoporins cooperate with Polycomb silencers to promote transcriptional repression and repair at DNA double-strand breaks.
PMID: 40440073
Proc Natl Acad Sci U S A · 2025
0.80
4
Crystal structure of human nuclear pore complex component NUP43.
PMID: 26391640
FEBS Lett · 2015
0.70
5
Transcriptome analysis identification of A-to-I RNA editing in granulosa cells associated with PCOS.
PMID: 37547318
Front Endocrinol (Lausanne) · 2023
0.60