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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TNPO1
transportin 1
Chromosome 5 · 5q13.2
NCBI Gene: 3842Ensembl: ENSG00000083312.19HGNC: HGNC:6401UniProt: A0A7P0TBF0
266PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeRNA bindingnucleoplasmnucleolusatrial fibrillationneurodegenerative diseasemultiple sclerosisinjury
✦AI Summary

TNPO1 (transportin 1) is a nuclear import receptor that mediates transport of cargo proteins into the nucleus through recognition of nuclear localization signals (NLS). Beyond canonical nuclear import, TNPO1 functions as a molecular chaperone that suppresses pathological phase separation of RNA-binding proteins (RBPs) with prion-like domains, including FUS, TDP-43, hnRNPA1, and hnRNPA2 1. TNPO1 recognizes both classical PY-NLS motifs and nonclassical RG/RGG-rich regions in cargo proteins 2, with arginine methylation regulating FUS-TNPO1 interactions 3. Beyond nuclear import, TNPO1 serves as a ciliary transport adaptor, binding the RVEP motif of Arl13b to facilitate its ciliary localization in cooperation with Rab8 4. Dysregulation of TNPO1 has disease relevance: mutations weakening TNPO1-FUS binding cause amyotrophic lateral sclerosis (ALS), while TNPO1 aggregation contributes to frontotemporal dementia (FTD) pathology 3. In esophageal cancer, the circBCAR3-miR-27a-3p axis upregulates TNPO1, promoting tumorigenesis and metastasis 5. Additionally, sphingosine directly binds TNPO1 to inhibit nuclear import while activating PP2A, suggesting therapeutic potential in cancer 6.

Sources cited
1
TNPO1 (Karyopherin-β2) chaperones and disaggregates RNA-binding proteins with prion-like domains, preventing phase separation and fibrillization
PMID: 29677512
2
TNPO1 suppresses FUS phase separation and stress granule association; mutations in FUS-NLS weaken TNPO1 binding in ALS; loss of FUS arginine methylation promotes phase separation in FTD
PMID: 29677514
3
TNPO1 recognizes nonclassical RG/RGG-rich NLS regions in RNA-binding proteins like CIRBP and regulates their nuclear localization and phase separation
PMID: 32234784
4
TNPO1 functions as a ciliary transport adaptor for Arl13b by directly binding its RVEP-containing ciliary targeting sequence
PMID: 36907439
5
CircBCAR3 upregulates TNPO1 via miR-27a-3p competitive binding, promoting esophageal cancer tumorigenesis, migration, invasion, and ferroptosis
PMID: 35840974
6
Sphingosine binds TNPO1 to inhibit nuclear import while simultaneously activating PP2A, reducing nuclear levels of cancer-promoting proteins
PMID: 40588551
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.44Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
multiple sclerosisOpen Targets
0.31Weak
injuryOpen Targets
0.27Weak
bladder calculusOpen Targets
0.27Weak
hypothyroidismOpen Targets
0.27Weak
preeclampsiaOpen Targets
0.26Weak
urticariaOpen Targets
0.23Weak
metabolic diseaseOpen Targets
0.22Weak
hyperlipidemiaOpen Targets
0.22Weak
thyroid diseaseOpen Targets
0.19Weak
endocrine system diseaseOpen Targets
0.19Weak
Hashimoto's thyroiditisOpen Targets
0.19Weak
Pathologic fractureOpen Targets
0.18Weak
benign neoplasmOpen Targets
0.18Weak
migraine disorderOpen Targets
0.09Suggestive
nephrolithiasisOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
connective tissue diseaseOpen Targets
0.04Suggestive
esophageal cancerOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TNPO2Shared pathway100%IPO13Shared pathway100%NUP62Protein interaction100%EWSR1Protein interaction99%FUSProtein interaction99%HNRNPA1Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
87%
Heart
86%
Lung
64%
Ovary
61%
Liver
50%
Gene Interaction Network
Click a node to explore
TNPO1TNPO2IPO13NUP62EWSR1FUSHNRNPA1
PROTEIN STRUCTURE
Preparing viewer…
PDB4FDD · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.15Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.07 [0.04–0.15]
RankingsWhere TNPO1 stands among ~20K protein-coding genes
  • #1,415of 20,598
    Most Researched266 · top 10%
  • #219of 17,882
    Most Constrained (LOEUF)0.15 · top 5%
Genes detectedTNPO1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
CircBCAR3 accelerates esophageal cancer tumorigenesis and metastasis via sponging miR-27a-3p.
PMID: 35840974
Mol Cancer · 2022
1.00
2
Phase Separation of FUS Is Suppressed by Its Nuclear Import Receptor and Arginine Methylation.
PMID: 29677514
Cell · 2018
0.90
3
Influenza A Virus: Cellular Entry.
PMID: 38159235
Subcell Biochem · 2023
0.88
4
Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains.
PMID: 29677512
Cell · 2018
0.80
5
Kap-β2/Transportin mediates β-catenin nuclear transport in Wnt signaling.
PMID: 36300792
Elife · 2022
0.76