TNPO1: Transportin-1 – A Key Nuclear Import Receptor in Health and Disease
Comprehensive gene card for TNPO1 (Karyopherin Beta 2), including genomic data, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | TNPO1 |
|---|---|
| Full Name | Transportin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 3842 ncbi.nlm.nih.gov/gene/3842 |
| Ensembl ID | ENSG00000113595 |
| UniProt ID | Q92973 |
| OMIM ID | 602901 |
| HGNC ID | 11989 |
| Aliases | KPNB2, M9-interacting protein, IPO2, TRN, MIP1 |
Description
TNPO1 (Transportin 1) encodes a member of the importin beta family of nuclear transport receptors. The protein mediates the nuclear import of proteins containing a PY-NLS (proline-tyrosine nuclear localization signal), including RNA-binding proteins, ribosomal proteins, and histones. TNPO1 is essential for nucleocytoplasmic trafficking and has been implicated in cancer, neurodegenerative disorders, and viral infection.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of nuclear import of oncoproteins and tumor suppressors; TNPO1 overexpression linked to poor prognosis | COSMIC; NCBI Gene; ClinVar |
| Amyotrophic lateral sclerosis (ALS) | Impaired nuclear import of TDP-43 and FUS due to TNPO1 dysfunction | OMIM; UniProt; PubMed |
| Viral infection (e.g., HIV-1, influenza) | TNPO1 mediates nuclear import of viral proteins; target for antiviral therapy | UniProt; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain (cortex) | 18.2 | Medium |
| Lung | 12.1 | Medium |
| Liver | 9.8 | Low |
| Heart | 7.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.3 | Cervical carcinoma cell line |
| HEK293 | 19.7 | Embryonic kidney cells |
| SH-SY5Y | 15.4 | Neuroblastoma cell line |
| A549 | 14.1 | Lung carcinoma cell line |
| K562 | 11.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | Rare (<0.01%) | Unknown; predicted to affect NLS binding |
| c.567_569del (p.Lys189del) | In-frame deletion | Rare | Altered protein stability |
| c.2101G>A (p.Val701Met) | Missense | Rare | Reported in cancer samples (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Reduced nuclear import capacity; may impair cellular trafficking of RNA-binding proteins.
Gain of Function (GOF)
Not well characterized; overexpression in tumors suggests possible oncogenic gain.
Dominant Negative (DN)
Mutant forms that interfere with wild-type TNPO1 function have been proposed in ALS models.
View complete mutation data：
Gene Ontology (GO)
| • protein import into nucleus (GO:0006606) | • nuclear localization sequence binding (GO:0008139) |
| • protein transporter activity (GO:0008565) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • tRNA import into nucleus (GO:0016031) |
Pathways
• Nuclear import of PY-NLS containing proteins
• HIV-1 nuclear import
• TDP-43 and FUS nuclear transport in ALS
• Ribosome biogenesis (import of ribosomal proteins)
Protein Summary
Transportin-1 (TNPO1) is a 890-amino acid protein belonging to the importin beta family. It consists of HEAT repeats that form a solenoid structure, allowing it to bind cargo proteins with a PY-NLS motif. TNPO1 interacts with RanGTP to regulate cargo release in the nucleus. It is ubiquitously expressed with highest levels in testis and brain. Post-translational modifications include phosphorylation and acetylation, which modulate its transport activity.
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