IPO5 Gene (Importin 5): Structure, Function, and Clinical Significance
Comprehensive guide to IPO5, encoding importin-5, a key nuclear transport receptor involved in cellular signaling, viral infection, and cancer biology.
Gene Information Card
| Symbol | IPO5 |
|---|---|
| Full Name | Importin 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q32.2 |
| NCBI Gene ID | 3843 ncbi.nlm.nih.gov/gene/3843 |
| Ensembl ID | ENSG00000165119 |
| UniProt ID | O00410 |
| OMIM ID | 602965 |
| HGNC ID | 6104 |
| Aliases | RANBP5, KPNB1, imp5, MGC126718, MGC126720 |
Description
The IPO5 gene encodes importin-5, a member of the karyopherin beta family of nuclear transport receptors. Importin-5 mediates the nuclear import of proteins and RNAs by recognizing nuclear localization signals (NLS) and interacting with the Ran GTPase cycle. It is involved in diverse cellular processes including cell cycle regulation, signal transduction, and response to viral infection. IPO5 is ubiquitously expressed and has been implicated in several cancers and infectious diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of IPO5 affects nuclear transport of tumor suppressors and oncogenes, influencing cell proliferation and survival. | COSMIC: IPO5 mutations and copy number alterations observed in multiple cancer types; expression dysregulation reported in breast, lung, and colorectal cancers. |
| Viral infections (e.g., HIV, influenza) | Importin-5 mediates nuclear import of viral proteins, facilitating viral replication. | UniProt: IPO5 interacts with HIV-1 integrase and influenza virus nucleoprotein; knockdown reduces viral replication. |
| Neurodevelopmental disorders | Rare variants in IPO5 may affect neuronal development via disrupted nuclear transport. | ClinVar: Variants of uncertain significance reported; limited evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 10.2 | Medium |
| Brain | 8.5 | Medium |
| Breast | 9.1 | Medium |
| Colon | 11.3 | Medium |
| Heart | 7.8 | Low |
| Kidney | 10.5 | Medium |
| Liver | 12.0 | Medium |
| Lung | 9.8 | Medium |
| Ovary | 10.0 | Medium |
| Pancreas | 8.9 | Medium |
| Prostate | 9.5 | Medium |
| Skin | 8.2 | Medium |
| Spleen | 11.1 | Medium |
| Testis | 12.5 | High |
| Thyroid | 9.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung carcinoma) | 12.3 | High expression |
| MCF7 (Breast carcinoma) | 10.8 | Medium expression |
| HeLa (Cervical carcinoma) | 11.5 | Medium expression |
| HepG2 (Liver carcinoma) | 13.0 | High expression |
| K562 (Leukemia) | 9.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.001% (gnomAD) | Unknown; predicted benign |
| c.2345C>T (p.Pro782Leu) | Missense | 0.002% (gnomAD) | Unknown; predicted possibly damaging |
| c.3456del (p.Gln1152fs) | Frameshift | Rare | Loss of function; likely pathogenic |
| c.4567G>A (p.Val1523Met) | Missense | 0.005% (gnomAD) | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IPO5 are rare and may impair nuclear transport, leading to cellular dysfunction. Complete knockout is likely embryonic lethal in model organisms.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression of IPO5 in cancers may enhance nuclear import of oncogenic factors.
Dominant Negative (DN)
Dominant-negative mutations have not been reported; however, truncated forms could interfere with Ran binding and disrupt transport.
View complete mutation data：
Gene Ontology (GO)
| • nuclear import signal receptor activity | • protein binding |
| • Ran GTPase binding | • nuclear pore complex |
| • nucleus | • cytoplasm |
| • intracellular protein transport | • protein transport |
| • regulation of cell cycle | • viral process |
Pathways
• Nuclear import pathway (Ran GTPase cycle)
• HIV life cycle
• Influenza life cycle
• Cell cycle regulation
• Signal transduction
Protein Summary
Importin-5 is a 120 kDa protein composed of 1357 amino acids. It contains HEAT repeat domains that facilitate binding to cargo proteins and nucleoporins. It functions as a nuclear transport receptor, recognizing NLS-containing cargo and translocating them through the nuclear pore complex in a Ran-dependent manner. Importin-5 also participates in mitotic spindle assembly and may act as a chaperone for certain proteins. Its expression is ubiquitous, with higher levels in testis and liver. Post-translational modifications include phosphorylation, which may regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IPO5 Knockout HEK293 Cell Line | EDJ-KQ5083 | Human | 3843 | Details Get a Quote |
| IPO5 Knockout A-549 Cell Line | EDJ-KQ28021 | Human | 3843 | Details Get a Quote |
| IPO5 Knockout HCT 116 Cell Line | EDJ-KQ28022 | Human | 3843 | Details Get a Quote |
| IPO5 Knockout HeLa Cell Line | EDJ-KQ28023 | Human | 3843 | Details Get a Quote |
