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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POM121
POM121 transmembrane nucleoporin
Chromosome 7 · 7q11.23
NCBI Gene: 9883Ensembl: ENSG00000196313.14HGNC: HGNC:19702UniProt: Q96HA1
83PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnuclear envelopenucleoplasmnuclear membraneHIV infectioninfluenzaviral diseaseCOVID-19
✦AI Summary

POM121 (POM121 transmembrane nucleoporin) is an essential transmembrane component of the nuclear pore complex (NPC) that regulates nucleocytoplasmic transport of proteins and RNA. As a structural constituent of the NPC, POM121 facilitates the nuclear import of key transcription factors including E2F1, MYC, c-MYC, AR, and PPARγ through importin-dependent mechanisms 12. The protein's repeat-containing domain anchors NPC components to the pore membrane, with both pore-integrated and soluble (sPOM121) nucleoplasmic forms contributing to cellular function 3. In cancer biology, POM121 has emerged as a critical regulator of tumor progression across multiple malignancies. POM121 overexpression is associated with poor prognosis in colorectal cancer, prostate cancer, non-small cell lung cancer, and neuroendocrine carcinomas 2145. POM121 promotes oncogenic transcription factor nuclear accumulation and activity, including MYC-mediated PD-L1 induction, β-catenin-driven progression, and supports immune evasion mechanisms 43. The protein is stabilized by UCHL1 deubiquitination and can be transcriptionally activated by histone H3K18 lactylation 54. In neurodegenerative diseases, POM121 dysfunction contributes to pathogenesis. Poly-PR toxicity in C9orf72-ALS reduces POM121 expression, impairing nuclear envelope integrity and ATF3 transcription factor localization; the Sigma-1R/POM121/ATF3 axis represents a neuroprotective pathway 6. Conversely, ESCRT-III pathway overactivation in sporadic ALS promotes POM121 reduction and contributes to NPC injury and TDP-43 dysfunction 7. Stress granule assembly disrupts nucleocytoplasmic transport machinery in ALS/FTD 8.

Sources cited
1
The protein's repeat-containing domain anchors NPC components to the pore membrane, with both pore-integrated and soluble (sPOM121) nucleoplasmic forms contributing to cellular function .
PMID: 40709833
2
Poly-PR toxicity in C9orf72-ALS reduces POM121 expression, impairing nuclear envelope integrity and ATF3 transcription factor localization; the Sigma-1R/POM121/ATF3 axis represents a neuroprotective pathway .
PMID: 40480424
3
Conversely, ESCRT-III pathway overactivation in sporadic ALS promotes POM121 reduction and contributes to NPC injury and TDP-43 dysfunction .
PMID: 39709457
4
Stress granule assembly disrupts nucleocytoplasmic transport machinery in ALS/FTD .
PMID: 29628143
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
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
polyarteritis nodosaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.07Suggestive
goutOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
X-linked retinal dysplasiaOpen Targets
0.05Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
X-linked retinoschisisOpen Targets
0.04Suggestive
triple-negative breast cancerOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
PainOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NUP188Shared pathway100%SEH1LProtein interaction100%NUP205Protein interaction100%NUP160Protein interaction100%SEC13Protein interaction100%NUP133Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
82%
Ovary
78%
Liver
71%
Lung
65%
Heart
41%
Gene Interaction Network
Click a node to explore
POM121NUP188SEH1LNUP205NUP160SEC13NUP133
PROTEIN STRUCTURE
Preparing viewer…
PDB5T6W · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.47 [0.35–0.63]
RankingsWhere POM121 stands among ~20K protein-coding genes
  • #5,750of 20,598
    Most Researched83
  • #4,488of 17,882
    Most Constrained (LOEUF)0.63
Genes detectedPOM121
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
H3K18 Lactylation Potentiates Immune Escape of Non-Small Cell Lung Cancer.
PMID: 39137401
Cancer Res · 2024
1.00
2
Stress Granule Assembly Disrupts Nucleocytoplasmic Transport.
PMID: 29628143
Cell · 2018
0.90
3
UCHL1 is a potential molecular indicator and therapeutic target for neuroendocrine carcinomas.
PMID: 38244540
Cell Rep Med · 2024
0.80
4
Sigma-1R-Pom121 axis preserves nuclear transport and integrity in poly-PR-induced C9orf72 ALS.
PMID: 40480424
Neurobiol Dis · 2025
0.70
5
Nuclear pore protein POM121 regulates subcellular localization and transcriptional activity of PPARγ.
PMID: 38177114
Cell Death Dis · 2024
0.60